References of Mitochondrial Interest (Authors A-L)

Date of last update: 12/1/03. 
This page is part of 
Mitomap: A Human Mitochondrial Genome Database.

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A

Abad, M. M., Cotter, P. D., Fodor, F. H., Larson, S., Ginsberg-Fellner, F., Desnick, R. J. and Abdenur, J. E. (1997). "Screening for the mitochondrial DNA A3243G mutation in children with insulin-dependent diabetes mellitus." Metabolism 46(4):445-449.

Abe, K., Fujimura, H., Nishikawa, Y., Yorifuji, S., Mezaki, T., Hirono, N., Nishitani, N. and Kameyama, M. (1991). "Marked reduction in CSF lactate and pyruvate levels after CoQ therapy in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Acta Neurologica Scandinavica 83(6):356-359.

Abe, S., Usami, S., Shinkawa, H., Weston, M. D., Overbeck, L. D., Hoover, D. M., Kenyon, J. B., Horai, S. and Kimberling, W. J. (1998). "Phylogenetic analysis of mitochondrial DNA in Japanese pedigrees of sensorineural hearing loss associated with the A1555G mutation." European Journal of Human Genetics 6(6):563-569.

Abrahams, J. P., Leslie, A. G., Lutter, R. and Walker, J. E. (1994). "Structure at 2.8 A resolution of F1-ATPase from bovine heart mitochondria [see comments]." Nature 370(6491):621-628.

Abu-Erreish, G. M. and Sanadi, D. R. (1978). "Age-related changes in cytochrome concentration of myocardial mitochondria." Meccanismi of Ageing and Development 7(6):425-432.

Adachi, K., Fujiura, Y., Mayumi, F., Nozuhara, A., Sugiu, Y., Sakanashi, T., Hidaka, T. and Toshima, H. (1993). "A deletion of mitochondrial DNA in murine doxorubicin-induced cardiotoxicity." Biochemical & Biophysical Research Communications 195(2):945-951.

Adams, J. H., Blackwood, W. and Wilson, J. (1966). "Further clinical and pathological observations on Leber's optic atrofia." Brain 89(1):15-26.

Adams, V., Griffin, L., Towbin, J., Gelb, B., Worley, K. and McCabe, E. R. (1991). "Porin interaction with hexokinase and glycerol kinase: metabolic microcompartmentation at the outer mitochondrial membrane." Biochemical Medicine and Metabolic Biology 45(3):271-291.

Adamson, G. M. and Billings, R. E. (1992). "Tumor necrosis factor induced oxidative stress in isolated mouse hepatocytes." Archives of Biochemistry and Biophysics 294(1):223-229.

Afifi, A. K., Ibrahim, M. Z., Bergman, R. A., Haydar, N. A., Mire, J., Bahuth, N. and Kaylani, F. (1972). "Morphologic features of hypermetabolic mitochondrial disease. A light microscopic, histochemical and electron microscopic study." Journal of the Neurological Sciences 15(3):271-290.

Agostino, A., Valletta, L., Chinnery, P. F., Ferrari, G., Carrara, F., Taylor, R. W., Schaefer, A. M., Turnbull, D. M., Tiranti, V. and Zeviani, M. (2003). "Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)." Neurology 60(8):1354-1356.

Aguilera, I., Garcia-Lozano, J. R., Bautista, J., Campos, Y., Arenas, J. and Nunez-Roldan, A. (1999). "A novel missense mutation 15747 T>C in the mitochondrial cytochrome b gene." Human Mutation (Online) 14(6):545.

Ahmed, I. and Krishnamoorthy, G. (1992). "The non-equivalence of binding sites of coenzyme quinone and rotenone in mitochondrial NADH-CoQ reductase." FEBS Letters 300:275-278.

Akiyama, S., Endo, H., Inohara, N., Ohta, S. and Kagawa, Y. (1994). "Gene structure and cell type-specific expression of the human ATP synthase alpha subunit." Biochimica et Biophysica Acta 1219(1):129-140.

Albin, R. L. (1998). "Fuch's corneal dystrophy in a patient with mitochondrial DNA mutations." Journal of Medical Genetics 35(3):258-259.

Albring, M., Griffith, J. and Attardi, G. (1977). "Association of a protein structure of probable membrane derivation with HeLa cell mitochondrial DNA near its origin of replication." Proceedings of the National Academy of Sciences of the United States of America 74(4):1348-1352.

Alcolado, J. C. and Thomas, A. W. (1995). "Maternally inherited diabetes mellitus: the role of mitochondrial DNA defects." Diabetic Medicine 12(2):102-108.

Alcolado, J. C., Clark, P. M., Rees, A. and Hales, C. N. (1994). "Insulin resistance and impaired glucose tolerance [letter; comment]." Lancet 344(8932):1293-1294.

Alcolado, J. C., Majid, A., Brockington, M., Sweeney, M. G., Morgan, R., Rees, A., Harding, A. E. and Barnett, A. H. (1994). "Mitochondrial gene defects in patients with NIDDM." Diabetologia 37(4):372-376.

Ali, S. T., Duncan, A. M., Schappert, K., Heng, H. H., Tsui, L. C., Chow, W. and Robinson, B. H. (1993). "Chromosomal localization of the human gene encoding the 51-kDa subunit of mitochondrial complex I (NDUFV1) to 11q13." Genomics 18(2):435-439.

Alizadeh, A. A., Eisen, M. B., Davis, R. E., Ma, C., Lossos, I. S., et al. (2000). "Distinct types of diffuse large B-cell lymphoma identified by gene expression profiling [see comments]." Nature 403(6769):503-511.

Allan, C. J., Argyropoulos, G., Bowker, M., Zhu, J., Lin, P. M., Stiver, K., Golichowski, A. and Garvey, W. T. (1997). "Gestational diabetes mellitus and gene mutations which affect insulin secretion." Diabetes Research & Clinical Practice 36(3):135-141.

Alonso, A., Martin, P., Albarran, C., Aquilera, B., Garcia, O., Guzman, A., Oliva, H. and Sancho, M. (1997). "Detection of somatic mutations in the mitochondrial DNA control region of colorectal and gastric tumors by heteroduplex and single-strand conformation analysis." Electrophoresis 18(5):682-685.

Altunbasak, S., Bingol, G., Ozbarlas, N., Akcoren, Z. and Herguner, O. (1998). "Kearns-Sayre syndrome. A case report." Turkish Journal of Pediatrics 40(2):255-259.

Alves-Silva, J., da Silva Santos, M., Guimaraes, P. E., Ferreira, A. C., Bandelt, H. J., Pena, S. D. and Prado, V. F. (2000). "The ancestry of Brazilian mtDNA lineages." American Journal of Human Genetics 67(2):444-461.

Amerik, A., Petukhova, G. V., Grigorenko, V. G., Lykov, I. P., Yarovoi, S. V., Lipkin, V. M. and Gorbalenya, A. E. (1994). "Cloning and sequence analysis of cDNA for a human homolog of eubacterial ATP-dependent Lon proteases." FEBS Letters 340(1-2):25-28.

Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1993). "Oxidants, antioxidants, and the degenerative diseases of aging." Proceedings of the National Academy of Sciences of the United States of America 90(17):7915-7922.

Ames, B. N., Shigenaga, M. K. and Hagen, T. M. (1995). "Mitochondrial decay in aging." Biochimica et Biophysica Acta 1271(1):165-170.

Anan, R., Nakagawa, M., Miyata, M., Higuchi, I., Nakao, S., Suehara, M., Osame, M. and Tanaka, H. (1995). "Cardiac involvement in mitochondrial diseases. A study on 17 patients with documented mitochondrial DNA defects [see Comment: Circulation 15:91(4):1266-1268]. ]." Circulation 91(4):955-961.

Anderson, C., T. and Friedberg, E. C. (1980). "The presence of nuclear and mitochondrial uracil-DNA glycosylase in extracts of human KB cells." Nucleic Acids Research 8(4):875-888.

Anderson, S., Bankier, A. T., Barrell, B. G., de Bruijn, M. H., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1981). "Sequence and organization of the human mitochondrial genome." Nature 290(5806):457-465.

Anderson, S., deBruijn, M. H. L., Coulson, A. R., Eperon, I. C., Sanger, F. and Young, I. G. (1982). "Complete sequence of bovine mitochondrial DNA. Conserved features of the mammalian mitochondrial genome." Journal of Molecular Biology 156(4):683-717.

Andersson, S. G., Zomorodipour, A., Andersson, J. O., Sicheritz-Ponten, T., Alsmark, U. C., Podowski, R. M., Naslund, A. K., Eriksson, A. S., Winkler, H. H. and Kurland, C. G. (1998). "The genome sequence of Rickettsia prowazekii and the origin of mitochondria [see comments]." Nature 396(6707):133-140.

Andre, P., Kim, A., Khrapko, K. and Thilly, W. G. (1997). "Fidelity and mutational spectrum of Pfu DNA polymerase on a human mitochondrial DNA sequence." Genome Research 7(8):843-852.

Andreu, A. L., Bruno, C., Dunne, T. C., Tanji, K., Shanske, S., Sue, C. M., Krishna, S., Hadjigeorgiou, G. M., Shtilbans, A., Bonilla, E. and DiMauro, S. (1999). "A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria." Annals of Neurology 45(1):127-130.

Andreu, A. L., Bruno, C., Hadjigeorgiou, G. M., Shanske, S. and DiMauro, S. (1999). "Polymorphic variants in the human mitochondrial cytochrome b gene." Molecular Genetics and Metabolism 67(1):49-52.

Andreu, A. L., Bruno, C., Shanske, S., Shtilbans, A., Hirano, M., Krishna, S., Hayward, L., Systrom, D. S., Brown, R. H., Jr. and DiMauro, S. (1998). "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy." Neurology 51(5):1444-1447.

Andreu, A. L., Checcarelli, N., Iwata, S., Shanske, S. and DiMauro, S. (2000). "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Pediatric Research 48(3):311-314.

Andreu, A. L., Hanna, M. G., Reichmann, H., Bruno, C., Penn, A. S., Tanji, K., Pallotti, F., Iwata, S., Bonilla, E., Lach, B., Morgan-Hughes, J. and DiMauro, S. (1999). "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA [see comments]." New England Journal of Medicine 341(14):1037-1044.

Andreu, A. L., Tanji, K., Bruno, C., Hadjigeorgiou, G. M., Sue, C. M., Jay, C., Ohnishi, T., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene." Annals of Neurology 45(6):820-823.

Andrews, R. G., Takahashi, M., Segal, G. M., Powell, J. S., Bernstein, I. D. and Singer, J. W. (1986). "The L4F3 antigen is expressed by unipotent and multipotent colony-forming cells but not by their precursors." Blood 68(5):1030-1035.

Andrews, R. M., Kubacka, I., Chinnery, P. F., Lightowlers, R. N., Turnbull, D. M. and Howell, N. (1999). "Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA [letter]." Nature Genetics 23(2):147.

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Anholt, R. R. H. (1986). "Mitochondrial benzodiazepine receptors as potential modulators of intermediary metabolism." Trends in Pharmacology 7:506-511.

Anholt, R. R. H., Pedersen, P. L., De Souza, E. B. and Snyder, S. H. (1986). "The peripheral-type benzodiazepine receptor. Localization to the mitochondrial outer membrane." Journal of Biological Chemistry 261(2):576-583.

Anonymous (1993). "The fifth report of the Joint National Committee on Detection, Evaluation, and Treatment of High Blood Pressure." Archives of Internal Medicine 153(2):154-183.

Anonymous (1996). "Simple minds and complex traits." Nature Genetics 13(2):131-132.

Anonymous (1996). "To affinity ... and beyond!" Nature Genetics 14(4):367-370.

Anonymous (1997). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 7(6-7):XIII-XIX.

Anonymous (1997). "Molecular medicine: a primer for clinicians Part. XI: Clinical implications of the new genetics-II." South Dakota Journal of Medicine 50(12):445-448.

Anonymous (1998). "52nd ENMC International Workshop: International Consortium on Nucleo-mitochondrial Interactions. 4-6 July 1997, Naarden, The Netherlands." Neuromuscular Disorders 8(1):57-58.

Anonymous (1998). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 8(1):XIII-XIX.

Anonymous (1998). "Mitochondrial encephalomyopathies: gene mutation." Neuromuscular Disorders 8(7):VIII-XI.

Anthony, G., Reimann, A. and Kadenbach, B. (1993). "Tissue-specific regulation of bovine heart cytochrome-c oxidase activity by ADP via interaction with subunit VIa." Proceedings of the National Academy of Sciences of the United States of America 90(5):1652-1656.

Antonenkov, V. D. and Panchenko, L. F. (1988). "Effect of chronic ethanol treatment under partial catalase inhibition on the activity of enzymes related to peroxide metabolism in rat liver and heart." International Journal of Biochemistry 20(8):823-828.

Antonenkov, V. D., Pirozhkov, S. V., Popova, S. V. and Panchenko, L. F. (1989). "Effect of chronic ethanol, catalase inhibitor 3-amino-1,2,4-triazole and clofibrate treatment on lipid peroxidation in rat myocardium." International Journal of Biochemistry 21(12):1313-1318.

Antonsson, B., Conti, F., Ciavatta, A., Montessuit, S., Lewis, S., Martinou, I., Bernasconi, L., Bernard, A., Mermod, J. J., Mazzei, G., Maundrell, K., Gambale, F., Sadoul, R. and Martinou, J. C. (1997). "Inhibition of Bax channel-forming activity by Bcl-2." Science 277(5324):370-372.

Apte, S. S., Mattei, M. G. and Olsen, B. R. (1995). "Mapping of the human BAX gene to chromosome 19q13.3-q13.4 and isolation of a novel alternatively spliced transcript, BAX delta." Genomics 26(3):592-594.

Aquadro, C. F. and Greenberg, B. D. (1983). "Human mitochondrial DNA variation and evolution: analysis of nucleotide sequences from seven individuals." Genetics 103(2):287-312.

Araghi-Niknam, M., Ardestani, S. K., Molitor, M., Inserra, P., Eskelson, C. D. and Watson, R. R. (1998). "Dehydroepiandrosterone (DHEA) sulfate prevents reduction in tissue vitamin E and increased lipid peroxidation due to murine retrovirus infection of aged mice." Proceedings of the Society for Experimental Biology and Medicine 218(3):210-217.

Arai, M. and Ohshima, S. (1997). "Maternally inherited diabetes and deafness with cerebellar ataxia: a new clinical phenotype associated with the mitochondrial DNA 3243 mutation [letter]." Journal of Neurology 244(7):468-469.

Arbustini, E., Diegoli, M., Fasani, R., Grasso, M., Morbini, P., Banchieri, N., Bellini, O., Dal Bello, B., Pilotto, A., Magrini, G., Campana, C., Fortina, P., Gavazzi, A., Narula, J. and Vigano, M. (1998). "Mitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy." American Journal of Pathology 153(5):1501-1510.

Arbustini, E., Fasani, R., Morbini, P., Diegoli, M., Grasso, M., Dal Bello, B., Marangoni, E., Banfi, P., Banchieri, N., Bellini, O., Comi, G., Narula, J., Campana, C., Gavazzi, A., Danesino, C. and Vigano, M. (1998). "Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure [published erratum appears in Heart 1999 Mar;81(3):330]." Heart 80(6):548-558.

Ardissino, D., Merlini, P. A., Savonitto, S., Demicheli, G., Zanini, P., Bertocchi, F., Falcone, C., Ghio, S., Marinoni, G., Montemartini, C. and Mussini, A. (1997). "Effect of transdermal nitroglycerin or N-acetylcysteine, or both, in the long-term treatment of unstable angina pectoris." Journal of the American College of Cardiology 29(5):941-947.

Arenas, J., Campos, Y., Bornstein, B., Ribacoba, R., Martin, M. A., Rubio, J. C., Santorelli, F. M., Zeviani, M., DiMauro, S. and Garesse, R. (1999). "A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA (Lys) gene associated with myoclonus epilepsy with ragged-red fibers." Neurology 52(2):377-382.

Arenas, J., Campos, Y., Ribacoba, R., Martin, M. A., Rubio, J. C., Ablanedo, P. and Cabello, A. (1998). "Complex I defect in muscle from patients with Huntington's disease." Annals of Neurology 43(3):397-400.

Argov, Z., Bank, W. J., Maris, J., Eleff, S., Kennaway, N. G., Olson, R. E. and Chance, B. (1986). "Treatment of mitochondrial myopathy due to complex III deficiency with vitamins K3 and C: A 31P-NMR follow-up study." Annals of Neurology 19(6):598-602.

Arizmendi, J. M., Skehel, J. M., Runswick, M. J., Fearnley, I. M. and Walker, J. E. (1992). "Complementary DNA sequences of two 14.5 kDa subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Complementation of the primary structure of the complex?" FEBS Letters 313:80-84.

Armstrong, M., Daly, A. K., Cholerton, S., Bateman, D. N. and Idle, J. R. (1992). "Mutant debrisoquine hydroxylation genes in Parkinson's disease." Lancet 339(8800):1017-1018.

Arnason, U. and Johnsson, E. (1992). "The complete mitochondrial DNA sequence of the harbor seal, Phoca vitulina." Journal of Molecular Evolution 34(6):493-505.

Arnason, U., Xu, X. and Gullberg, A. (1996). "Comparison between the complete mitochondrial DNA sequences of Homo and the common chimpanzee based on nonchimeric sequences." Journal of Molecular Evolution 42(2):145-152.

Arnaudo, E., Hirano, M., Seelan, R. S., Milatovich, A., Hsieh, C. L., Fabrizi, G. M., Grossman, L. I., Francke, U. and Schon, E. A. (1992). "Tissue-specific expression and chromosome assignment of genes specifying two isoforms of subunit VIIa of human cytochrome c oxidase." Gene 119(2):299-305.

Arnestad, M., Opdal, S. H., Musse, M. A., Vege, A. and Rognum, T. O. (2002). "Are substitutions in the first hypervariable region of the mitochondrial DNA displacement-loop in sudden infant death syndrome due to maternal inheritance?" Acta Paediatrica 91(10):1060-1064.

Arnheim, N. and Cortopassi, G. (1992). "Deleterious mitochondrial DNA mutations accumulate in aging human tissues." Mutation Research 275(3-6):157-167.

Arnold, S. and Kadenbach, B. (1997). "Cell respiration is controlled by ATP, an allosteric inhibitor of cytochrome-c oxidase." European Journal of Biochemistry 249(1):350-354.

Arnold, S. and Kadenbach, B. (1999). "The intramitochondrial ATP/ADP-ratio controls cytochrome c oxidase activity allosterically." FEBS Letters 443(2):105-108.

Arpa, J., Campos, Y., Gutierrez-Molina, M., Martin-Casanueva, M. A., Cruz-Martinez, A., Perez-Conde, M. C., Lopez-Pajares, R., Morales, M. C., Tatay, J., Lacasa, T., Barreiro, P. and Arenas, J. (1997). "Gene dosage effect in one family with myoclonic epilepsy and ragged-red fibers (MERRF)." Acta Neurologica Scandinavica 96(2):65-71.

Arts, W. F., Scholte, H. R., Bogaard, J. M., Kerrebijn, K. F. and Luyt-Houwen, I. E. (1983). "NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin [letter]." Lancet 2(8349):581-582.

Artuch, R., Pavia, C., Playan, A., Vilaseca, M. A., Colomer, J., Valls, C., Rissech, M., Gonzalez, M. A., Pou, A., Briones, P., Montoya, J. and Pineda, M. (1998). "Multiple endocrine involvement in two pediatric patients with Kearns-Sayre syndrome." Hormone Research 50(2):99-104.

Astrand, I., Astrand, P. O., Hallback, I. and Kilbom, A. (1973). "Reduction in maximal oxygen uptake with age." Journal of Applied Physiology 35(5):649-654.

Astrinidis, A. and Kouvatsi, A. (1994). "Mitochondrial DNA polymorphism in northern Greece." Human Biology 66(4):601-611.

Attardi, G. (1985). "Animal mitochondrial DNA: an extreme example of genetic economy." International Review of Cytology 93:93-145.

Attardi, G. (2002). "Role of mitochondrial DNA in human aging." Mitochondrion 2(1-2):27-37.

Attardi, G. and Montoya, J. (1983). "Analysis of human mitochondrial RNA." Methods in Enzymology 97(0):435-469.

Attardi, G., Chomyn, A., Doolittle, R. F., Mariottini, P. and Ragan, C. I. (1986). "Seven unidentified reading frames of human mitochondrial DNA encode subunits of the respiratory chain NADH dehydrogenase." Cold Spring Harb Symp Quant Biol 1:103-114.

Attardi, G., Chomyn, A., Montoya, J. and Ojala, D. (1982). "Identification and mapping of human mitochondrial genes." Cytogenetics and Cell Genetics 32(1-4):85-98.

Attardi, G., Yoneda, M. and Chomyn, A. (1995). "Complementation and segregation behavior of disease-causing mitochondrial DNA mutations in cellular model systems." Biochimica et Biophysica Acta 1271(1):241-248.

Attimonelli, M., Altamura, N., Benne, R., Boyen, C., Brennicke, A., et al. (1999). "MitBASE: a comprehensive and integrated mitochondrial DNA database." Nucleic Acids Research 27(1):128-133.

Attimonelli, M., Cooper, J. M., D'Elia, D., de Montalvo, A., De Robertis, M., Lehvaslaiho, H., Malladi, S. B., Memeo, F., Stevens, K., Schapira, A. H. and Saccone, C. (1999). "Update of the Human MitBASE database." Nucleic Acids Research 27(1):143-146.

Au, H. C., Ream-Robinson, D., Bellew, L. A., Broomfield, P. L., Saghbini, M. and Scheffler, I. E. (1995). "Structural organization of the gene encoding the human iron-sulfur subunit of succinate dehydrogenase." Gene 159(2):249-253.

Auch-Schwelk, W., Katusic, Z. S. and Vanhoutte, P. M. (1990). "Thromboxane A2 receptor antagonists inhibit endothelium-dependent contractions." Hypertension 15(6 Pt 2):699-703.

Austin, S. A., Vriesendorp, F. J., Thandroyen, F. T., Hecht, J. T., Jones, O. T. and Johns, D. R. (1998). "Expanding the phenotype of the 8344 transfer RNAlysine mitochondrial DNA mutation." Neurology 51(5):1447-1450.

Avise, J. C., Giblin-Davidson, C., Laerm, J., Patton, J. C. and Lansman, R. A. (1979). "Mitochondrial DNA clones and matriarchal phylogeny within and among geographic populations of the pocket gopher, Geomys pinetis." Proceedings of the National Academy of Sciences of the United States of America 76(12):6694-6698.

Awad, M. and Gavish, M. (1987). "Binding of [3H]Ro 5-4864 and [3H]PK 11195 to cerebral cortex and peripheral tissues of various species: species differences and heterogeneity in peripheral benzodiazepine binding sites." Journal of Neurochemistry 49(5):1407-1414.

Awata, T., Matsumoto, T., Iwamoto, Y., Matsuda, A., Kuzuya, T. and Saito, T. (1993). "Japanese case of diabetes mellitus and deafness with mutation in mitochondrial tRNALeu(UUR) gene [letter]." Lancet 341(8855):1291-1292.

Aziz, D. C., Hanna, Z. and Jolicoeur, P. (1989). "Severe immunodeficiency disease induced by a defective murine leukaemia virus." Nature 338(6215):505-508.

Azzi, A. and Chance, B. (1969). "The "energized state" of mitochondria: lifetime and ATP equivalence." Biochimica et Biophysica Acta 189(2):141-151.

Azzi, A., Montecucco, C. and Richter, C. (1975). "The use of acetylated ferricytochrome c for the detection of superoxide radicals produced in biological membranes." Biochemical & Biophysical Research Communications 65(2):597-603.

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Baasner, A., Schafer, C., Junge, A. and Madea, B. (1998). "Polymorphic sites in human mitochondrial DNA control region sequences: population data and maternal inheritance." Forensic Science International 98(3):169-178.

Bachinski, L. L. and Roberts, R. (1996). "Familial hypertrophic cardiomyopathy: diagnostic and therapeutic implications of recent genetic studies." Molecular Medicine Today 2(9):387-393.

Bachman, N. J., Riggs, P. K., Siddiqui, N., Makris, G. J., Womack, J. E. and Lomax, M. I. (1997). "Structure of the human gene (COX6A2) for the heart/muscle isoform of cytochrome c oxidase subunit VIa and its chromosomal location in humans, mice, and cattle." Genomics 42(1):146-151.

Bachynski, B. N., Flynn, J. T., Rodrigues, M. M., Rosenthal, S., Cullen, R. and Curless, R. G. (1986). "Hyperglycemic acidotic coma and death in Kearns-Sayre syndrome." Ophthalmology 93(3):391-396.

Backer, J. M. and Weinstein, I. B. (1980). "Mitochondrial DNA is a major cellular target for a dihydrodiol-epoxide derivative of benzo[a]pyrene." Science 209(4453):297-299.

Baek, K., Thiel, B. A., Lucas, S. and Stuehr, D. J. (1993). "Macrophage nitric oxide synthase subunits. Purification, characterization, and role of prosthetic groups and substrate in regulating their association into a dimeric enzyme." Journal of Biological Chemistry 268(28):21120-21129.

Baens, M., Chaffanet, M., Cassiman, J. J., van den Berghe, H. and Marynen, P. (1993). "Construction and evaluation of a hncDNA library of human 12p transcribed sequences derived from a somatic cell hybrid." Genomics 16(1):214-218.

Bagasra, O., Kajdacsy-Balla, A. and Lischner, H. W. (1989). "Effects of alcohol ingestion on in vitro susceptibility of peripheral blood mononuclear cells to infection with HIV and of selected T-cell functions." Alcoholism: Clinical and Experimental Research 13(5):636-643.

Bagnara, G. P., Zauli, G., Vitale, L., Rosito, P., Vecchi, V., Paolucci, G., Avanzi, G. C., Ramenghi, U., Timeus, F. and Gabutti, V. (1991). "In vitro growth and regulation of bone marrow enriched CD34+ hematopoietic progenitors in Diamond-Blackfan anemia." Blood 78(9):2203-2210.

Bai, U., Seidman, M. D., Hinojosa, R. and Quirk, W. S. (1997). "Mitochondrial DNA deletions associated with aging and possibly presbycusis: a human archival temporal bone study." American Journal of Otology 18(4):449-453.

Bailliet, G., Rothhammer, F., Carnese, F. R., Bravi, C. M. and Bianchi, N. O. (1994). "Founder mitochondrial haplotypes in Amerindian populations." American Journal of Human Genetics 55(1):27-33.

Bakker, H. D., Scholte, H. R., Dingemans, K. P., Spelbrink, J. N., Wijburg, F. A. and Van den Bogert, C. (1996). "Depletion of mitochondrial deoxyribonucleic acid in a family with fatal neonatal liver disease [see comments]." Journal of Pediatrics 128(5 Pt 1):683-687.

Bakker, H. D., Scholte, H. R., Van den Bogert, C., Jeneson, J. A., Ruitenbeek, W., Wanders, R. J., Abeling, N. G. and van Gennip, A. H. (1993). "Adenine nucleotide translocator deficiency in muscle: potential therapeutic value of vitamin E." Journal of Inherited Metabolic Disease 16(3):548-552.

Bakker, H. D., Scholte, H. R., Van den Bogert, C., Ruitenbeek, W., Jeneson, J. A., Wanders, R. J., Abeling, N. G., Dorland, B., Sengers, R. C. and Van Gennip, A. H. (1993). "Deficiency of the adenine nucleotide translocator in muscle of a patient with myopathy and lactic acidosis: a new mitochondrial defect." Pediatric Research 33(4 Pt 1):412-417.

Ballinger, S. W., Schurr, T. G., Torroni, A., Gan, Y. Y., Hodge, J. A., Hassan, K., Chen, K. H. and Wallace, D. C. (1992). "Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations [published erratum appears in Genetics 1992 Apr;130(4):957]." Genetics 130(1):139-152.

Ballinger, S. W., Shoffner, J. M., Gebhart, S., Koontz, D. A. and Wallace, D. C. (1994). "Mitochondrial diabetes revisited [letter]." Nature Genetics 7(4):458-459.

Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I., Polak, M. A., Koontz, D. A. and Wallace, D. C. (1992). "Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion." Nature Genetics 1:11-15.

Bandelt, H. J. and Forster, P. (1997). "The myth of bumpy hunter-gatherer mismatch distributions [letter; comment]." American Journal of Human Genetics 61(4):980-983.

Bandelt, H. J., Forster, P., Sykes, B. C. and Richards, M. B. (1995). "Mitochondrial portraits of human populations using median networks." Genetics 141(2):743-753.

Bandelt, H. J., Lahermo, P., Richards, M. and Macaulay, V. (2001). "Detecting errors in mtDNA data by phylogenetic analysis." International Journal of Legal Medicine 115(2):64-69.

Bandmann, O., Sweeney, M. G., Daniel, S. E., Marsden, C. D. and Wood, N. W. (1997). "Mitochondrial DNA polymorphisms in pathologically proven Parkinson's disease." Journal of Neurology 244(4):262-265.

Bandy, B. and Davison, A. J. (1990). "Mitochondrial mutations may increase oxidative stress: implications for carcinogenesis and aging?" Free Radical Biology and Medicine 8(6):523-539.

Bank, W. and Chance, B. (1997). "Diagnosis of defects in oxidative muscle metabolism by non-invasive tissue oximetry." Molecular & Cellular Biochemistry 174(1-2):7-10.

Baracca, A., Barogi, S., Carelli, V., Lenaz, G. and Solaini, G. (2000). "Catalytic activities of mitochondrial ATP synthase in patients with mitochondrial DNA T8993G mutation in the ATPase 6 gene encoding subunit a." Journal of Biological Chemistry 275(6):4177-4182.

Barbaro, G., Di Lorenzo, G., Asti, A., Ribersani, M., Belloni, G., Grisorio, B., Filice, G. and Barbarini, G. (1999). "Hepatocellular mitochondrial alterations in patients with chronic hepatitis C: ultrastructural and biochemical findings [see comments]." American Journal of Gastroenterology 94(8):2198-2205.

Barbaro, G., Di Lorenzo, G., Grisorio, B. and Barbarini, G. (1998). "Cardiac involvement in the acquired immunodeficiency syndrome: a multicenter clinical-pathological study. Gruppo Italiano per lo Studio Cardiologico dei pazienti affetti da AIDS Investigators." AIDS Research and Human Retroviruses 14(12):1071-1077.

Barbaro, G., Di Lorenzo, G., Grisorio, B. and Barbarini, G. (1998). "Incidence of dilated cardiomyopathy and detection of HIV in myocardial cells of HIV-positive patients. Gruppo Italiano per lo Studio Cardiologico dei Pazienti Affetti da AIDS [see comments]." New England Journal of Medicine 339(16):1093-1099.

Barbiroli, B., Montagna, P., Cortelli, P., Iotti, S., Lodi, R., Barboni, P., Monari, L., Lugaresi, E., Frassineti, C. and Zaniol, P. (1995). "Defective brain and muscle energy metabolism shown by in vivo 31P magnetic resonance spectroscopy in nonaffected carriers of 11778 mtDNA mutation." Neurology 45(7):1364-1369.

Barbujani, G., Stenico, M., Excoffier, L. and Nigro, L. (1996). "Mitochondrial DNA sequence variation across linguistic and geographic boundaries in Italy." Human Biology 68(2):201-215.

Barger, S. W., Smith-Swintosky, V. L., Rydel, R. E. and Mattson, M. P. (1993). "Beta-Amyloid precursor protein mismetabolism and loss of calcium homeostasis in Alzheimer's disease." Annals of the New York Academy of Sciences 695:158-164.

Barinaga, M. (1996). "An intriguing new lead on Huntington's disease." Science 271(5253):1233-1234.

Barkworth, M. F., Dyde, C. J., Johnson, K. I. and Schnelle, K. (1985). "An early phase I study to determine the tolerance, safety and pharmacokinetics of idebenone following multiple oral doses." Arzneimittelforschung 35(11):1704-1707.

Barrell, B. G., Anderson, S., Bankier, A. T., de Bruijn, M. H., Chen, E., Coulson, A. R., Drouin, J., Eperon, I. C., Nierlich, D. P., Roe, B. A., Sanger, F., Schreier, P. H., Smith, A. J., Staden, R. and Young, I. G. (1980). "Different pattern of codon recognition by mammalian mitochondrial tRNAs." Proceedings of the National Academy of Sciences of the United States of America 77(6):3164-3166.

Barrell, B. G., Bankier, A. T. and Drouin, J. (1979). "A different genetic code in human mitochondria." Nature 282:189-194.

Barreto, G., Vago, A. R., Ginther, C., Simpson, A. J. and Pena, S. D. (1996). "Mitochondrial D-loop "signatures" produced by low-stringency single specific primer PCR constitute a simple comparative human identity test." American Journal of Human Genetics 58(3):609-616.

Barrientos, A., Casademont, J., Genis, D., Cardellach, F., Fernandez-Real, J. M., Grau, J. M., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1997). "Sporadic heteroplasmic single 5.5 kb mitochondrial DNA deletion associated with cerebellar ataxia, hypogonadotropic hypogonadism, choroidal dystrophy, and mitochondrial respiratory chain complex I deficiency." Human Mutation 10(3):212-216.

Barrientos, A., Casademont, J., Saiz, A., Cardellach, F., Volpini, V., Solans, A., Tolosa, E., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1996). "Autosomal recessive Wolfram Syndrome associated with an 8.5-kb mtDNA single deletion." American Journal of Human Genetics 58(5):963-970.

Barrientos, A., Casademont, J., Solans, A., Moral, P., Cardellach, F., Urbano-Marquez, A., Estivill, X. and Nunes, V. (1995). "The 9-bp deletion in region V of mitochondrial DNA: evidence of mutation recurrence." Human Genetics 96(2):225-228.

Barrientos, A. and Moraes, C. T. (1998). "Simultaneous transfer of mitochondrial DNA and single chromosomes in somatic cells: a novel approach for the study of defects in nuclear- mitochondrial communication." Human Molecular Genetics 7(11):1801-1808.

Barrientos, A. and Moraes, C. T. (1999). "Titrating the effects of mitochondrial complex I impairment in the cell physiology." Journal of Biological Chemistry 274(23):16188-16197.

Barrientos, A., Muller, S., Dey, R., Wienberg, J. and Moraes, C. T. (2000). "Cytochrome c oxidase assembly in primates is sensitive to small evolutionary variations in amino acid sequence." Molecular Biology and Evolution 17(10):1508-1519.

Barros, F., Lareu, M. V., Salas, A. and Carracedo, A. (1997). "Rapid and enhanced detection of mitochondrial DNA variation using single-strand conformation analysis of superposed restriction enzyme fragments from polymerase chain reaction-amplified products." Electrophoresis 18(1):52-54.

Basile, A. S., Bolger, G. T., Lueddens, H. W. and Skolnick, P. (1989). "Electrophysiological actions of Ro5-4864 on cerebellar Purkinje neurons: evidence for "peripheral" benzodiazepine receptor-mediated depression." Journal of Pharmacology and Experimental Therapeutics 248(1):463-469.

Basu, A. and Avadhani, N. G. (1991). "Structural organization of nuclear gene for subunit Vb of mouse mitochondrial cytochrome c oxidase." Journal of Biological Chemistry 266(23):15450-15456.

Bataillard, M., Chatzoglou, E., Rumbach, L., Sternberg, D., Tournade, A., Laforet, P., Jardel, C., Maisonobe, T. and Lombes, A. (2001). "Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutation." Neurology 56(3):405-407.

Batandier, C., Picard, A., Tessier, N. and Lunardi, J. (2000). "Identification of a novel T398A mutation in the ND5 subunit of the mitochondrial complex I and of three novel mtDNA polymorphisms in two patients presenting ocular symptoms." Human Mutation 16(6):532.

Batista dos Santos, S. E., Rodrigues, J. D., Ribeiro-dos-Santos, A. K. and Zago, M. A. (1999). "Differential contribution of indigenous men and women to the formation of an urban population in the Amazon region as revealed by mtDNA and Y-DNA." American Journal of Physical Anthropology 109(2):175-180.

Batista, O., Kolman, C. J. and Bermingham, E. (1995). "Mitochondrial DNA diversity in the Kuna Amerinds of Panama." Human Molecular Genetics 4(5):921-929.

Battini, R., Ferrari, S., Kaczmarek, L., Calabretta, B., Chen, S. T. and Baserga, R. (1987). "Molecular cloning of a cDNA for a human ADP/ATP carrier which is growth-regulated." Journal of Biological Chemistry 262(9):4355-4359.

Baumer, A., Zhang, C., Linnane, A. W. and Nagley, P. (1994). "Age-related human mtDNA deletions: a heterogeneous set of deletions arising at a single pair of directly repeated sequences." American Journal of Human Genetics 54(4):618-630.

Beal, M. F. (1994). "Neurochemistry and toxin models in Huntington's disease." Current Opinion in Neurology 7(6):542-547.

Beal, M. F. (1995). "Aging, energy, and oxidative stress in neurodegenerative diseases." Annals of Neurology 38(3):357-366.

Beard, S. E., Spector, E. B., Seltzer, W. K., Frerman, F. E. and Goodman, S. I. (1993). "Mutations in electron transfer flavoprotein:ubiquinone oxidoreductase (ETF:QO) in glutaric acidemia type II (GA2)." Clinical Research 41:271a.

Becher, M. W., Wills, M. L., Noll, W. W., Hurko, O. and Price, D. L. (1999). "Kearns-Sayre syndrome with features of Pearson's marrow-pancreas syndrome and a novel 2905-base pair mitochondrial DNA deletion." Human Pathology 30(5):577-581.

top of page

Beck, M. A., Esworthy, R. S., Ho, Y. S. and Chu, F. F. (1998). "Glutathione peroxidase protects mice from viral-induced myocarditis." FASEB Journal 12(12):1143-1149.

Beck, Y., Oren, R., Amit, B., Levanon, A., Gorecki, M. and Hartman, J. R. (1987). "Human Mn superoxide dismutase cDNA sequence." Nucleic Acids Research 15(21):9076.

Becker-Wegerich, P., Steuber, M., Olbrisch, R., Ruzicka, T., Auburger, G. and Hofhaus, G. (1998). "Defects of mitochondrial respiratory chain in multiple symmetric lipomatosis." Archives of Dermatological Research 290(12):652-655.

Beckman, J. S., Beckman, T. W., Chen, J., Marshall, P. A. and Freeman, B. A. (1990). "Apparent hydroxyl radical production by peroxynitrite: implications for endothelial injury from nitric oxide and superoxide." Proceedings of the National Academy of Sciences of the United States of America 87(4):1620-1624.

Beckman, K. B. and Ames, B. N. (1998). "Mitochondrial aging: open questions." Annals of the New York Academy of Sciences 854:118-127.

Behringer, R. (1998). "Supersonic congenics? [letter; comment]." Nat Genet 18(2):108.

Belmont, J. W., MacGregor, G. R., Wager-Smith, K., Fletcher, F. A., Moore, K. A., Hawkins, D., Villalon, D., Chang, S. M. and Caskey, C. T. (1988). "Expression of human adenosine deaminase in murine hematopoietic cells." Molecular and Cellular Biology 8(12):5116-5125.

Belogrudov, G. and Hatefi, Y. (1994). "Catalytic sector of complex I (NADH:ubiquinone oxidoreductase): subunit stoichiometry and substrate-induced conformation changes." Biochemistry 33(15):4571-4576.

Belogrudov, G. I., Tomich, J. M. and Hatefi, Y. (1995). "ATP synthase complex. Proximities of subunits in bovine submitochondrial particles." Journal of Biological Chemistry 270(5):2053-2060.

Bendahan, D., Desnuelle, C., Vanuxem, D., Confort-Gouny, S., Figarella-Branger, D., Pellissier, J. F., Kozak-Ribbens, G., Pouget, J., Serratrice, G. and Cozzone, P. J. (1992). "31P NMR spectroscopy and ergometer exercise test as evidence for muscle oxidative performance improvement with coenzyme Q in mitochondrial myopathies [see comments]." Neurology 42(6):1203-1208.

Bendall, K. E. and Sykes, B. C. (1995). "Length heteroplasmy in the first hypervariable segment of the human mtDNA control region." American Journal of Human Genetics 57(2):248-256.

Bendall, K. E., Macaulay, V. A. and Sykes, B. C. (1997). "Variable levels of a heteroplasmic point mutation in individual hair roots." American Journal of Human Genetics 61(6):1303-1308.

Bendall, K.E., Macaulay, V.A., Baker, J.R. and Sykes, B.C. (1996). "Heteroplasmic point mutations in the human mtDNA control region." American Journal of Human Genetics 59(6):1276-1287.

Benecke, R., Strumper, P. and Weiss, H. (1992). "Electron transfer complex I defect in idiopathic dystonia." Annals of Neurology 32(5):683-686.

Benecke, R., Strumper, P. and Weiss, H. (1993). "Electron transfer complexes I and IV of platelets are abnormal in Parkinson's disease but normal in Parkinson-plus syndromes." Brain 116(Pt 6):1451-1463.

Bennett, M. C., Diamond, D. M., Stryker, S. L., Parks, J. K. and Parker, W. D., Jr., (1992). "Cytochrome oxidase inhibition: a novel animal model of Alzheimer's disease." Journal of Geriatric Psychiatry and Neurology 5(2):93-101.

Bensimon, G., Lacomblez, L., Meininger, V. and The ALS/Riluzole Study Group (1994). "A controlled trial of riluzole in amyotrophic lateralsclerosis." New England Journal of Medicine 330(9):585-591.

Bentlage, H. A., Janssen, A. J., Chomyn, A., Attardi, G., Walker, J. E., Schagger, H., Sengers, R. C. and Trijbels, F. J. (1995). "Multiple deficiencies of mitochondrial DNA- and nuclear-encoded subunits of respiratory NADH dehydrogenase detected with peptide- and subunit-specific antibodies in mitochondrial myopathies." Biochimica et Biophysica Acta 1234(1):63-73.

Bentlage, H., de Coo, R., ter Laak, H., Sengers, R., Trijbels, F., Ruitenbeek, W., Schlote, W., Pfeiffer, K., Gencic, S., von Jagow, G. and Schagger, H. (1995). "Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies." European Journal of Biochemistry 227(3):909-915.

Benzi, G. and Moretti, A. (1995). "Are reactive oxygen species involved in Alzheimer's disease?" Neurobiology of Aging 16(4):661-674.

Beregi, E. and Regius, O. (1983). "Relationship of mitochondrial damage in human lymphocytes and age." Aktuelle Gerontologie 13(6):226-228.

Berenson, R. J., Andrews, R. G., Bensinger, W. I., Kalamasz, D., Knitter, G., Buckner, C. D. and Bernstein, I. D. (1988). "Antigen CD34+ marrow cells engraft lethally irradiated baboons." Journal of Clinical Investigation 81(3):951-955.

Berkovic, S. F., Carpenter, S., Evans, A., Karpati, G., Shoubridge, E. A., Andermann, F., Meyer, E., Tyler, J. L., Diksic, M., Arnold, D., Wolfe, L. S., Andermann, E. and Hakim, A. M. (1989). "Myoclonus epilepsy and ragged-red fibres (MERRF). I. A clinical, pathological, biochemical, magnetic resonance spectrographic and positron emission tomographic study." Brain 112:1231-1260.

Berkovic, S. F., Shoubridge, E. A., Andermann, F., Andermann, E., Carpenter, S. and Karpati, G. (1991). "Clinical spectrum of mitochondrial DNA mutation at base pair 8344 [letter; comment]." Lancet 338(8764):457.

Berneburg, M., Gattermann, N., Stege, H., Grewe, M., Vogelsang, K., Ruzicka, T. and Krutmann, J. (1997). "Chronically ultraviolet-exposed human skin shows a higher mutation frequency of mitochondrial DNA as compared to unexposed skin and the hematopoietic system." Photochemistry & Photobiology 66(2):271-275.

Bernes, S. M., Bacino, C., Prezant, T. R., Pearson, M. A., Wood, T. S., Fournier, P. and Fischel-Ghodsian, N. (1993). "Identical mitochondrial DNA deletion in mother with progressive external ophthalmoplegia and son with Pearson marrow-pancreas syndrome." Journal of Pediatrics 123(4):598-602.

Berry-Kravis, E., Mao, R., Ciurlionis, R. and Adams, A. (1994). "New Pvu II mitochondrial polymorphism in a mother and son of Indian ancestry." American Journal of Medical Genetics 53(1):94-96.

Bertranpetit, J., Sala, J., Calafell, F., Underhill, P. A., Moral, P. and Comas, D. (1995). "Human mitochondrial DNA variation and the origin of Basques." Annals of Human Genetics 59(Pt 1):63-81.

Besch, D., Leo-Kottler, B., Zrenner, E. and Wissinger, B. (1999). "Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene." Graefes Archive for Clincial and Experimental Ophthalmology 237(9):745-752.

Bet, L., Moggio, M., Comi, G. P., Mariani, C., Prelle, A., Checcarelli, N., Bordoni, A., Bresolin, N., Scarpini, E. and Scarlato, G. (1994). "Multiple sclerosis and mitochondrial myopathy: an unusual combination of diseases." Journal of Neurology 241(8):511-516.

Betty, D. J., Chin-Atkins, A. N., Croft, L., Sraml, M. and Easteal, S. (1996). "Multiple independent origins of the COII/tRNALys intergenic 9-bp mtDNA deletion in aboriginal Australians." American Journal of Human Genetics 58(2):428-433.

Bhat, H. K., Hiatt, W. R., Hoppel, C. L. and Brass, E. P. (1999). "Skeletal muscle mitochondrial DNA injury in patients with unilateral peripheral arterial disease." Circulation 99(6):807-812.

Bhattacharyya, T., Karnezis, A. N., Murphy, S. P., Hoang, T., Freeman, B. C., Phillips, B. and Morimoto, R. I. (1995). "Cloning and subcellular localization of human mitochondrial hsp70." Journal of Biological Chemistry 270(4):1705-1710.

Biagini, G., Pallotti, F., Carraro, S., Sgarbi, G., Pich, M. M., Lenaz, G., Anzivino, F., Gualandi, G. and Xin, D. (1998). "Mitochondrial DNA in platelets from aged subjects." Meccanismi of Ageing & Development 101(3):269-275.

Bianchi, M. S., Bianchi, N. O. and Bailliet, G. (1995). "Mitochondrial DNA mutations in normal and tumor tissues from breast cancer patients." Cytogenetics and Cell Genetics 71(1):99-103.

Bibb, M. J., Van Etten, R. A., Wright, C. T., Walberg, M. W. and Clayton, D. A. (1981). "Sequence and gene organization of mouse mitochondrial DNA." Cell 26(2 Pt 2):167-180.

Bidooki, S. K., Johnson, M. A., Chrzanowska-Lightowlers, Z., Bindoff, L. A. and Lightowlers, R. N. (1997). "Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes." American Journal of Human Genetics 60(6):1430-1438.

Bindoff, L. A., Birch-Machin, M., Cartlidge, N. E. F., Parker, W. D., Jr. and Turnbull, D. M. (1989). "Mitochondrial function in Parkinson's disease [letter; comment]." Lancet 2(8653):49.

Bindoff, L. A., Howell, N., Poulton, J., McCullough, D. A., Morten, K. J., Lightowlers, R. N., Turnbull, D. M. and Weber, K. (1993). "Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism." Journal of Biological Chemistry 268(26):19559-19564.

Biousse, V., Brown, M. D., Newman, N. J., Allen, J. C., Rosenfeld, J., Meola, G. and Wallace, D. C. (1997). "De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy." Neurology 49(4):1136-1138.

Biousse, V. and Newman, N. J. (2001). "Neuro-ophthalmology of mitochondrial diseases." Seminars in Neurology 21(3):275-291.

Birch-Machin, M. A., Tindall, M., Turner, R., Haldane, F. and Rees, J. L. (1998). "Mitochondrial DNA deletions in human skin reflect photo- rather than chronologic aging." Journal of Investigative Dermatology 110(2):149-152.

Blachly-Dyson, E., Baldini, A., Litt, M., McCabe, E. R. and Forte, M. (1994). "Human genes encoding the voltage-dependent anion channel (VDAC) of the outer mitochondrial membrane: mapping and identification of two new isoforms." Genomics 20(1):62-67.

Blachly-Dyson, E., Zambronicz, E. B., Yu, W. H., Adams, V., McCabe, E. R., Adelman, J., Colombini, M. and Forte, M. (1993). "Cloning and functional expression in yeast of two human isoforms of the outer mitochondrial membrane channel, the voltage-dependent anion channel." Journal of Biological Chemistry 268(3):1835-1841.

Blahos, J., 2nd, Whalin, M. E. and Krueger, K. E. (1995). "Identification and purification of a 10-kilodalton protein associated with mitochondrial benzodiazepine receptors." Journal of Biological Chemistry 270(35):20285-20291.

Blake, J. C., Taanman, J. W., Morris, A. M., Gray, R. G., Cooper, J. M., McKiernan, P. J., Leonard, J. V. and Schapira, A. H. (1999). "Mitochondrial DNA depletion syndrome is expressed in amniotic fluid cell cultures." American Journal of Pathology 155(1):67-70.

Blanc, H., Adams, C. W. and Wallace, D. C. (1981). "Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines." Nucleic Acids Research 9(21):5785-5795.

Blanc, H., Chen, K. H., D'Amore, M. A. and Wallace, D. C. (1983). "Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs." American Journal of Human Genetics 35(2):167-176.

Blanc, H., Wright, C. T., Bibb, M. J., Wallace, D. C. and Clayton, D. A. (1981). "Mitochondrial DNA of chloramphenicol-resistant mouse cells contains a single nucleotide change in the region encoding the 3' end of the large ribosomal RNA." Proceedings of the National Academy of Sciences of the United States of America 78(6):3789-3793.

Blanchard, B. J., Park, T., Fripp, W. J., Lerman, L. S. and Ingram, V. M. (1993). "A mitochondrial DNA deletion in normally aging and in Alzheimer brain tissue." Neuroreport 4(6):799-802.

top of page

Blass, J. P., Baker, A. C., Ko, L. and Black, R. S. (1990). "Induction of Alzheimer antigens by an uncoupler of oxidative phosphorylation." Archives of Neurology 47(8):864-869.

Blaw, M. E. and Mize, C. E. (1990). "Juvenile Pearson syndrome." Journal of Child Neurology 5(3):187-190.

Blier, P. U., Dufresne, F. and Burton, R. S. (2001). "Natural selection and the evolution of mtDNA-encoded peptides: evidence for intergenomic co-adaptation." Trends in Genetics 17(7):400-406.

Blin, O., Desnuelle, C., Rascol, O., Borg, M., Peyro Saint Paul, H., Azulay, J. P., Bille, F., Figarella, D., Coulom, F., Pellissier, J. F., Montastruc, J. L., Chatel, M. and Serratrice, G. (1994). "Mitochondrial respiratory failure in skeletal muscle from patients with Parkinson's disease and multiple system atrofia." Journal of the Neurological Sciences 125(1):95-101.

Blochlinger, K. and Diggelmann, H. (1984). "Hygromycin B phosphotransferase as a selectable marker for DNA transfer experiments with higher eucaryotic cells." Molecular & Cellular Biology 4(12):2929-2931.

Blok, R. B., Gook, D. A., Thorburn, D. R. and Dahl, H. H. (1997). "Skewed segregation of the mtDNA nt 8993 (T-->G) mutation in human oocytes." American Journal of Human Genetics 60(6):1495-1501.

Blok, R. B., Thorburn, D. R., Thompson, G. N. and Dahl, H. H. (1995). "A topoisomerase II cleavage site is associated with a novel mitochondrial DNA deletion." Human Genetics 95(1):75-81.

Bodemer, C., Rotig, A., Rustin, P., Cormier, V., Niaudet, P., Saudubray, J. M., Rabier, D., Munnich, A. and de Prost, Y. (1999). "Hair and skin disorders as signs of mitochondrial disease." Pediatrics 103(2):428-433.

Bodenteich, A., Mitchell, L. G. and Merril, C. R. (1991). "A lifetime of retinal light exposure does not appear to increase mitochondrial mutations." Gene 108(2):305-310.

Bodenteich, A., Mitchell, L. G., Polymeropoulos, M. H. and Merril, C. R. (1992). "Dinucleotide repeat in the human mitochondrial D-loop." Human Molecular Genetics 1(2):140.

Bodis-Wollner, I., Chung, E., Ghilardi, M. F., Glover, A., Onofrj, M., Pasik, P. and Samson, Y. (1991). "Acetyl-levo-carnitine protects against MPTP-induced parkinsonism in primates." Journal of Neural Transmission - Parkinsons Disease & Dementia Section 3(1):63-72.

Bodnar, A. G., Cooper, J. M., Holt, I. J., Leonard, J. V. and Schapira, A. H. (1993). "Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion." American Journal of Human Genetics 53(3):663-669.

Bodnar, A. G., Cooper, J. M., Leonard, J. V. and Schapira, A. H. (1995). "Respiratory-deficient human fibroblasts exhibiting defective mitochondrial DNA replication." Biochemical Journal 305(Pt 3):817-822.

Boffoli, D., Scacco, S. C., Vergari, R., Solarino, G., Santacroce, G. and Papa, S. (1994). "Decline with age of the respiratory chain activity in human skeletal muscle." Biochimica et Biophysica Acta 1226(1):73-82.

Bogenhagen, D. F., Applegate, E. F. and Yoza, B. K. (1984). "Identification of a promoter for transcription of the heavy strand of human mtDNA: in vitro transcription and deletion mutagenesis." Cell 36(4):1105-1113.

Bohr, V. A. (1991). "Gene specific DNA repair." Carcinogenesis 12(11):1983-1992.

Bohr, V., Anson, R. M., Mazur, S. and Dianov, G. (1998). "Oxidative DNA damage processing and changes with aging." Toxicology Letters 102-103:47-52.

Boise, L. H., Gonzalez-Garcia, M., Postema, C. E., Ding, L., Lindsten, T., Turka, L. A., Mao, X., Nunez, G. and Thompson, C. B. (1993). "Bcl-x, a bcl-2-related gene that functions as a dominant regulator of apoptotic cell death." Cell 74(4):597-608.

Boles, R. G., Roe, T., Senadheera, D., Mahnovski, V. and Wong, L. J. (1998). "Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison disease." European Journal of Pediatrics 157(8):643-647.

Boles, T. C., Snow, C. C. and Stover, E. (1995). "Forensic DNA testing on skeletal remains from mass graves: a pilot project in Guatemala." Journal of Forensic Sciences 40(3):349-355.

Bolhuis, P. A., Bleeker-Wagemakers, E. M., Ponne, N. J., Van Schooneveld, M. J., Westerveld, A., Van den Bogert, C. and Tabak, H. F. (1990). "Rapid shift in genotype of human mitochondrial DNA in a family with Leber's hereditary optic neuropathy." Biochemical and Biophysical Research Communications 170(3):994-997.

Bonatto, S. L. and Salzano, F. M. (1997). "Diversity and age of the four major mtDNA haplogroups, and their implications for the peopling of the New World." American Journal of Human Genetics 61(6):1413-1423.

Bonham, J. R., Guthrie, P., Downing, M., Allen, J. C., Tanner, M. S., Sharrard, M., Rittey, C., Land, J. M., Fensom, A., O'Neill, D., Duley, J. A. and Fairbanks, L. D. (1999). "The allopurinol load test lacks specificity for primary urea cycle defects but may indicate unrecognized mitochondrial disease." Journal of Inherited Metabolic Disease 22(2):174-184.

Bonilla, E., Tanji, K., Hirano, M., Vu, T. H., DiMauro, S. and Schon, E. A. (1999). "Mitochondrial involvement in Alzheimer's disease." Biochimica et Biophysica Acta 1410(2):171-182.

Bonne-Tamir, B., Johnson, M. J., Natali, A., Wallace, D. C. and Cavalli-Sforza, L. L. (1986). "Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level." American Journal of Human Genetics 38(3):341-351.

Bonne-Tamir, B., Korostishevsky, M., Redd, A. J., Pel-Or, Y., Kaplan, M. E. and Hammer, M. F. (2003). "Maternal and paternal lineages of the Samaritan isolate: mutation rates and time to most recent common male ancestor." Annals of Human Genetics 67(2):153-164.

Bono, F., Lamarche, I., Prabonnaud, V., Le Fur, G. and Herbert, J. M. (1999). "Peripheral benzodiazepine receptor agonists exhibit potent antiapoptotic activities." Biochemical & Biophysical Research Communications 265(2):457-461.

Bonod-Bidaud, C., Giraud, S., Mandon, G., Mousson, B. and Stepien, G. (1999). "Quantification of OXPHOS gene transcripts during muscle cell differentiation in patients with mitochondrial myopathies." Experimental Cell Research 246(1):91-97.

Bonte, C. A., Matthijs, G. L., Cassiman, J. J. and Leys, A. M. (1997). "Macular pattern dystrophy in patients with deafness and diabetes." Retina 17(3):216-221.

Boore, J. L. (1997). "Transmission of mitochondrial DNA--playing favorites?" Bioessays 19(9):751-753.

Bortolini, M. C., Salzano, F. M., Zago, M. A., Da Silva, W. A., Jr. and Weimer, T. d. A. (1997). "Genetic variability in two Brazilian ethnic groups: a comparison of mitochondrial and protein data." American Journal of Physical Anthropology 103(2):147-156.

Bosetti, F., Brizzi, F., Barogi, S., Mancuso, M., Siciliano, G., Tendi, E. A., Murri, L., Rapoport, S. I. and Solaini, G. (2002). "Cytochrome c oxidase and mitochondrial F1F0-ATPase (ATP synthase) activities in platelets and brain from patients with Alzheimer's disease." Neurobiology of Aging 23(3):371-376.

Boss, O., Samec, S., Paoloni-Giacobino, A., Rossier, C., Dulloo, A., Seydoux, J., Muzzin, P. and Giacobino, J. P. (1997). "Uncoupling protein-3: a new member of the mitochondrial carrier family with tissue-specific expression." FEBS Letters 408(1):39-42.

Botstein, D., Chervitz, S. A. and Cherry, J. M. (1997). "Yeast as a model organism [comment]." Science 277(5330):1259-1260.

Boulet, L., Karpati, G. and Shoubridge, E. A. (1992). "Distribution and threshold expression of the tRNALys mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF)." American Journal of Human Genetics 51(6):1187-1200.

Bourgeron, T., Chretien, D., Rotig, A., Munnich, A. and Rustin, P. (1993). "Fate and expression of the deleted mitochondrial DNA differ between human heteroplasmic skin fibroblast and Epstein-Barr virus-transformed lymphocyte cultures." Journal of Biological Chemistry 268(26):19369-19376.

Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Pequignot, E., Munnich, A. and Rotig, A. (1995). "Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency." Nature Genetics 11:144-149.

Boursot, P., Yonekawa, H. and Bonhomme, F. (1987). "Heteroplasmy in mice with deletion of a large coding region of mitochondrial DNA." Molecular Biology and Evolution 4(1):46-55.

Boustany, R. N., Aprille, J. R., Halperin, J., Levy, H. and DeLong, G. R. (1983). "Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin." Annals of Neurology 14(4):462-470.

Bouzidi, M. F., Poyau, A. and Godinot, C. (1998). "Co-existence of high levels of a cytochrome b mutation and of a tandem 200 bp duplication in the D-loop of muscle human mitochondrial DNA." Human Molecular Genetics 7(3):385-391.

Boveris, A. (1984). "Determination of the production of superoxide radicals and hydrogen peroxide in mitochondria." Methods in Enzymology 105:429-435.

Boveris, A. and Turrens, J. F. (1980). "Production of superoxide anion by the NADH-dehydrogenase of mamalian mitochondria." In Chemical and Biochemical Aspects of Superoxide and Superoxide Dismutase. Developments in Biochemistry. 11A: 84-91; New York, Elsevier-North Holland. Bannister, J. V. and Hill, H. A. O., Eds.

Boveris, A., Oshino, N. and Chance, B. (1972). "The cellular production of hydrogen peroxide." Biochemical Journal 128(3):617-630.

Bowles, N. E. and Towbin, J. A. (1998). "Molecular aspects of myocarditis." Current Opinion in Cardiology 13(3):179-184.

Bowling, A. C., Mutisya, E. M., Walker, L. C., Price, D. L., Cork, L. C. and Beal, M. F. (1993). "Age-dependent impairment of mitochondrial function in primate brain." Journal of Neurochemistry 60(5):1964-1967.

Boyer, P. D. (1993). "The binding change mechanism for ATP synthase--some probabilities and possibilities." Biochimica et Biophysica Acta 1140(3):215-250.

Boyson, S. J. (1991). "Parkinson's disease and the electron transport chain [editorial]." Ann Neurol 30(3):330-331.

Bravi, D., Anderson, J. J., Dagani, F., Davis, T. L., Ferrari, R., Gillespie, M. and Chase, T. N. (1992). "Effect of aging and dopaminomimetic therapy on mitochondrial respiratory function in Parkinson's disease." Movement Disorders 7(3):228-231.

Breen, G. A. (1988). "Bovine liver cDNA clones encoding a precursor of the alpha-subunit of the mitochondrial ATP synthase complex." Biochemical and Biophysical Research Communications 152(1):264-269.

Breen, G. A., Miller, D. L., Holmans, P. L. and Welch, G. (1986). "Mitochondrial DNA of two independent oligomycin-resistant Chinese hamster ovary cell lines contains a single nucleotide change in the ATPase 6 gene." Journal of Biological Chemistry 261(25):11680-11685.

Brega, A., Gardella, R., Semino, O., Morpurgo, G., Astaldi Ricotti, G. B., Wallace, D. C. and Santachiara Benerecetti, A. S. (1986). "Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA." American Journal of Human Genetics 39(4):502-512.

Brega, A., Scozzari, R., Maccioni, L., Iodice, C., Wallace, D. C., Bianco, I., Cao, A. and Santachiara Benerecetti, A. S. (1986). "Mitochondrial DNA polymorphisms in Italy. I. Population data from Sardinia and Rome." Annals of Human Genetics 50(Pt 4):327-338.

Brehm, A., Pereira, L., Bandelt, H. J., Prata, M. J. and Amorim, A. (2002). "Mitochondrial portrait of the Cabo Verde archipelago: the Senegambian outpost of Atlantic slave trade." Annals of Human Genetics 66(1):49-60.

top of page

Brennan, W. A., Jr., Bird, E. D. and Aprille, J. R. (1985). "Regional mitochondrial respiratory activity in Huntington's Disease brain." Journal of Neurochemistry 44(6):1948-1950.

Brenner, C. A., Wolny, Y. M., Barritt, J. A., Matt, D. W., Munne, S. and Cohen, J. (1998). "Mitochondrial DNA deletion in human oocytes and embryos." Molecular Human Reproduction 4(9):887-892.

Brierley, E. J., Johnson, M. A., James, O. F. and Turnbull, D. M. (1997). "Mitochondrial involvement in the ageing process. Facts and controversies." Molecular & Cellular Biochemistry 174(1-2):325-328.

Brierley, E. J., Johnson, M. A., Lightowlers, R. N., James, O. F. and Turnbull, D. M. (1998). "Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle." Annals of Neurology 43(2):217-223.

Brini, M., Pinton, P., King, M. P., Davidson, M., Schon, E. A. and Rizzuto, R. (1999). "A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency." Nature Medicine 5(8):951-954.

Brocard, J., Warot, X., Wendling, O., Messaddeq, N., Vonesch, J. L., Chambon, P. and Metzger, D. (1997). "Spatio-temporally controlled site-specific somatic mutagenesis in the mouse." Proceedings of the National Academy of Sciences of the United States of America 94(26):14559-14563.

Brockington, M., Alsanjari, N., Sweeney, M. G., Morgan-Hughes, J. A., Scaravilli, F. and Harding, A. E. (1995). "Kearns-Sayre syndrome associated with mitochondrial DNA deletion or duplication: a molecular genetic and pathological study." Journal of the Neurological Sciences 131(1):78-87.

Brockington, M., Sweeney, M. G., Hammans, S. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). "A tandem duplication in the D-loop of human mitochondrial DNA is associated with deletions in mitochondrial myopathies." Nature Genetics 4(1):67-71.

Broker, S., Meunier, B., Rich, P., Gattermann, N. and Hofhaus, G. (1998). "MtDNA mutations associated with sideroblastic anaemia cause a defect of mitochondrial cytochrome c oxidase." European Journal of Biochemistry 258(1):132-138.

Brosius, J. and Gould, S. J. (1992). "On "genomenclature": a comprehensive (and respectful) taxonomy for pseudogenes and other "junk DNA"." Proceedings of the National Academy of Sciences of the United States of America 89(22):10706-10710.

Brown, G. K. (1997). "Bottlenecks and beyond: mitochondrial DNA segregation in health and disease." Journal of Inherited Metabolic Disease 20(1):2-8.

Brown, M. D. (1999). "The enigmatic relationship between mitochondrial dysfunction and Leber's hereditary optic neuropathy [editorial; comment]." Journal of the Neurological Sciences 165(1):1-5.

Brown, M. D., Allen, J. C., Van Stavern, G. P., Newman, N. J. and Wallace, D. C. (2001). "Clinical, genetic, and biochemical characterization of a Leber Hereditary Optic Neuropathy family containing both the 11778 and 14484 primary mutations." American Journal of Medical Genetics 104(4):331-338.

Brown, M. D. and Wallace, D. C. (1994). "Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy." Clinical Neuroscience 2(3-4):138-145.

Brown, M. D. and Wallace, D. C. (1994). "Molecular basis of mitochondrial DNA disease." Journal of Bioenergetics and Biomembranes 26(3):273-289.

Brown, M. D., Hosseini, S. H., Torroni, A., Bandelt, H. J., Allen, J. C., Schurr, T. G., Scozzari, R., Cruciani, F. and Wallace, D. C. (1998). "mtDNA Haplogroup X: an ancient link between Europe/Western Asia and North America?" American Journal of Human Genetics 63(6):1852-1861.

Brown, M. D., Lott, M. T., Voljavec, A. S., Torroni, A. and Wallace, D. C. (1991). "Mitochondrial DNA cytochrome b mutations associated with Leber's hereditary optic neuropathy and evidence for deleterious interactions between mutations." American Journal of Human Genetics 49 (Suppl):973.

Brown, M. D., Shoffner, J. M., Kim, Y. L., Jun, A. S., Graham, B. H., Cabell, M. F., Gurley, D. S. and Wallace, D. C. (1996). "Mitochondrial DNA sequence analysis of four Alzheimer's and Parkingson's disease patients." American Journal of Human Genetics 61(3):283-289.

Brown, M. D., Sun, F. and Wallace, D. C. (1997). "Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage." American Journal of Human Genetics 60(2):381-387.

Brown, M. D., Torroni, A., Huoponen, K., Chen, Y. S., Lott, M. T. and Wallace, D. C. (1994). "Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 55(2):410-412.

Brown, M. D., Torroni, A., Reckord, C. L. and Wallace, D. C. (1995). "Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations." Human Mutation 6(4):311-325.

Brown, M. D., Torroni, A., Shoffner, J. M. and Wallace, D. C. (1992). "Mitochondrial tRNAThr mutations and lethal infantile mitochondrial myopathy [letter]." American Journal of Human Genetics 51(2):446-447.

Brown, M. D., Voljavec, A. S., Lott, M. T., MacDonald, I. and Wallace, D. C. (1992). "Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases." FASEB Journal 6(10):2791-2799.

Brown, M. D., Voljavec, A. S., Lott, M. T., Torroni, A., Yang, C.-C. and Wallace, D. C. (1992). "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Genetics 130(1):163-173.

Brown, M. D., Yang, C.-C., Trounce, I., Torroni, A., Lott, M. T. and Wallace, D. C. (1992). "A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I." American Journal of Human Genetics 51(2):378-385.

Brown, M.D., Starikovskaya, Y.B., Derbeneva, O., Hosseini, S., Allen, J.C., Mikhailovskaya, I.E., Sukernik, R.I. and Wallace, D.C. (2002). "The role of mtDNA background in disease expression: A new primary LHON mutation associated with Western Eurasian haplogroup J." Human Genetics 110(2):130-138.

Brown, R. H., Jr. (1995). "Amyotrophic lateral sclerosis: recent insights from genetics and transgenic mice." Cell 80(5):687-692.

Brown, W. M. (1980). "Polymorphism in mitochondrial DNA of humans as revealed by restriction endonuclease analysis." Proceedings of the National Academy of Sciences of the United States of America 77:3605-3609.

Brown, W. M. and Goodman, H. M. (1979). "Quantitation of intrapopulation variation by restriction endonuclease analysis of human mitochondrial DNA." In Extrachromosomal DNA: 485-499; N.Y., Academic Press. Cummings, D. J., Borst, P., Dawid, I. B., Weissman, S. M. and Fox, C. F., Eds.

Brown, W. M., George, M. and Wilson, A. C. (1979). "Rapid evolution of animal mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 76:1967-1971.

Brown, W. M., Prager, E. M., Wan, A. and Wilson, A. C. (1982). "Mitochondrial DNA sequences in primates: tempo and mode of evolution." Journal of Molecular Evolution 18:225-239.

Bruno, C., Kirby, D. M., Koga, Y., Garavaglia, B., Duran, G., Santorelli, F. M., Shield, L. K., Xia, W., Shanske, S., Goldstein, J. D., Iwanaga, R., Akita, Y., Carrara, F., Davis, A., Zeviani, M., Thorburn, D. R. and DiMauro, S. (1999). "The mitochondrial DNA C3303T mutation can cause cardiomyopathy and/or skeletal myopathy." Journal of Pediatrics 135(2 Pt 1):197-202.

Bruno, C., Martinuzzi, A., Tang, Y., Andreu, A. L., Pallotti, F., Bonilla, E., Shanske, S., Fu, J., Sue, C. M., Angelini, C., DiMauro, S. and Manfredi, G. (1999). "A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV." American Journal of Human Genetics 65(3):611-620.

Bruno, C., Minetti, C., Tang, Y., Magalhaes, P. J., Santorelli, F. M., Shanske, S., Bado, M., Cordone, G., Gatti, R. and DiMauro, S. (1998). "Primary adrenal insufficiency in a child with a mitochondrial DNA deletion." Journal of Inherited Metabolic Disease 21(2):155-161.

Brustovetsky, N. and Klingenberg, M. (1996). "Mitochondrial ADP/ATP carrier can be reversibly converted into a large channel by Ca2+." Biochemistry 35(26):8483-8488.

Bu, X., Shohat, M., Jaber, L. and Rotter, J. I. (1993). "A form of sensorineural deafness is determined by a mitochondrial and an autosomal locus: evidence from pedigree segregation analysis." Genetic Epidemiology 10(1):3-15.

Buchwald, A., Till, H., Unterberg, C., Oberschmidt, R., Figulla, H. R. and Wiegand, V. (1990). "Alterations of the mitochondrial respiratory chain in human dilated cardiomyopathy." European Heart Journal 11(6):509-516.

Buege, J. A. and Aust, S. D. (1978). "Microsomal lipid peroxidation." Methods in Enzymology 52:302-310.

Buemi, M., Allegra, A., Rotig, A., Gubler, M. C., Aloisi, C., Corica, F., Pettinato, G., Frisina, N. and Niaudet, P. (1997). "Renal failure from mitochondrial cytopathies." Nephron 76(3):249-253.

Buess, M., Moroni, C. and Hirsch, H. H. (1997). "Direct identification of differentially expressed genes by cycle sequencing and cycle labelling using the differential display PCR primers." Nucleic Acids Research 25(11):2233-2235.

Buhl, R., Jaffe, H. A., Holroyd, K. J., Wells, F. B., Mastrangeli, A., Saltini, C., Cantin, A. M. and Crystal, R. G. (1989). "Systemic glutathione deficiency in symptom-free HIV-seropositive individuals [see comments]." Lancet 2(8675):1294-1298.

Bullough, D. A., Ceccarelli, E. A., Roise, D. and Allison, W. S. (1989). "Inhibition of the bovine-heart mitochondrial F1-ATPase by cationic dyes and amphipathic peptides." Biochimica et Biophysica Acta 975(3):377-383.

Bunn, C. L., Wallace, D. C. and Eisenstadt, J. M. (1974). "Cytoplasmic inheritance of chlormaphenicol resistance in mouse tissue culture cells." Proceedings of the National Academy of Sciences of the United States of America 71(5):1681-1685.

Bunn, C. L., Wallace, D. C. and Eisenstadt, J. M. (1977). "Mitotic segregation of cytoplasmic determinants for chloramphenicol resistance in mammalian cells. I: Fusions with mouse cell lines." Somatic Cell Genetics 3(1):71-92.

Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y. S., Myers, R. M., Roses, A. D., Vance, J. M. and Strittmatter, W. J. (1996). "Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH." Nature Medicine 2(3):347-350.

Burger, G., Forget, L., Zhu, Y., Gray, M. W. and Lang, B. F. (2003). "Unique mitochondrial genome architecture in unicellular relatives of animals." Proceedings of the National Academy of Sciences of the United States of America 100(3):892-897.

Butterfield, D. A., Koppal, T., Howard, B., Subramaniam, R., Hall, N., Hensley, K., Yatin, S., Allen, K., Aksenov, M., Aksenova, M. and Carney, J. (1998). "Structural and functional changes in proteins induced by free radical-mediated oxidative stress and protective action of the antioxidants N-tert-butyl-alpha-phenylnitrone and vitamin E." Annals of the New York Academy of Sciences 854:448-462.

Bykhovskaya, Y., Shohat, M., Ehrenman, K., Johnson, D., Hamon, M., Cantor, R. M., Aouizerat, B., Bu, X., Rotter, J. I., Jaber, L. and Fischel-Ghodsian, N. (1998). "Evidence for complex nuclear inheritance in a pedigree with nonsyndromic deafness due to a homoplasmic mitochondrial mutation." American Journal of Medical Genetics 77(5):421-426.

Byrnes, J. J., Miller, L. G., Perkins, K., Greenblatt, D. J. and Shader, R. I. (1993). "Chronic benzodiazepine administration. XI. Concurrent administration of PK11195 attenuates lorazepam discontinuation effects." Neuropsychopharmacology 8(3):267-273.

C

top of page

Cadenas, E. and Boveris, A. (1980). "Enhancement of hydrogen peroxide formation by protophores and ionophores in antimycin-supplemented mitochondria." Biochemical Journal 188(1):31-37.

Cagianut, B., Rhyner, K., Furrier, W. and Schnebli, H. P. (1981). "Thiosulphate-sulphur transferase (rhodanese) deficiency in Leber's hereditary optic atrofia." Lancet 2(8253):981-982.

Cahill, A., Baio, D. L., Ivester, P. and Cunningham, C. C. (1996). "Differential effects of chronic ethanol consumption on hepatic mitochondrial and cytoplasmic ribosomes." Alcoholism: Clinical and Experimental Research 20(8):1362-1367.

Cai, X. D., Golde, T. E. and Younkin, S. G. (1993). "Release of excess amyloid beta protein from a mutant amyloid beta protein precursor." Science 259(5094):514-516.

Calabresi, P. A., Silvestri, G., DiMauro, S. and Griggs, R. C. (1994). "Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF." Muscle and Nerve 17(8):943-945.

Campos, Y., Bautista, J., Gutierrez-Rivas, E., Chinchon, D., Cabello, A., Segura, D. and Arenas, J. (1995). "Clinical heterogeneity in two pedigrees with the 3243 bp tRNALeu(UUR) mutation of mitochondrial DNA." Acta Neurologica Scandinavica 91(1):62-65.

Campos, Y., Bautista, J., Gutierrez-Rivas, E., Llabres, J., Lorenzo, G. and Arenas, J. (1994). "Variable clinical expression associated with the mutation 3243 np of mitochondrial DNA." Journal of Inherited Metabolic Disease 17(5):634-635.

Campos, Y., Esteban, J., Cabello, A. and Arenas, J. (1994). "Genetic analysis of one family with myoclonic epilepsy and ragged-red fibers (MERRF)." Muscle and Nerve 17(10):1229-1231.

Campos, Y., Martin, M. A., Lorenzo, G., Aparicio, M., Cabello, A. and Arenas, J. (1996). "Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA." Muscle and Nerve 19(2):187-190.

Campos, Y., Martin, M. A., Rubio, J. C., Gutierrez del Olmo, M. C., Cabello, A. and Arenas, J. (1997). "Bilateral striatal necrosis and MELAS associated with a new T3308C mutation in the mitochondrial ND1 gene." Biochemical & Biophysical Research Communications 238(2):323-325.

Campos, Y., Martin, M. A., Rubio, J. C., Solana, L. G., Garcia-Benayas, C., Terradas, J. L. and Arenas, J. (1997). "Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA." Neurology 49(2):595-597.

Campuzano, V., Montermini, L., Molto, M. D., Pianese, L., Cossee, M., et al. (1996). "Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion (see comments)." Science 271(5254):1423-1427.

Cann, R. L. and Wilson, A. C. (1983). "Length mutations in human mitochondrial DNA." Genetics 104(4):699-711.

Cann, R. L., Brown, W. M. and Wilson, A. C. (1984). "Polymorphic sites and the mechanism of evolution in human mitochondrial DNA." Genetics 106:479-499.

Cann, R. L., Stoneking, M. and Wilson, A. C. (1987). "Mitochondrial DNA and human evolution." Nature 325:31-36.

Cao, X. and Phillis, J. W. (1994). "alpha-Phenyl-tert-butyl-nitrone reduces cortical infarct and edema in rats subjected to focal ischemia." Brain Research 644(2):267-272.

Capaldi, R. A. (1990). "Structure and function of cytochrome c oxidase." Annual Review of Biochemistry 59:569-596.

Capps, G. J., Samuels, D. C. and Chinnery, P. F. (2003). "A model of the nuclear control of mitochondrial DNA replication." Journal of Theoretical Biology 221(4):565-583.

Cardaioli, E., Dotti, M. T., Hayek, G., Zappella, M. and Federico, A. (1999). "Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835 [letter]." Journal of Submicroscopic Cytology & Pathology 31(2):301-304.

Cardellach, F., Marti, M. J., Fernandez-Sola, J., Marin, C., Hoek, J. B., Tolosa, E. and Urbano-Marquez, A. (1993). "Mitochondrial respiratory chain activity in skeletal muscle from patients with Parkinson's disease [see comments, 94050596]." Neurology 43(11):2258-2262.

Carducci, C., Leuzzi, V., Scuderi, M., DeNegri, A. M., Gabrieli, C. B., Antonozzi, I. and Pontecorvi, A. (1991). "Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy." Human Genetics 87(6):725-727.

Carelli, V., Barboni, P., Zacchini, A., Mancini, R., Monari, L., Cevoli, S., Liguori, R., Sensi, M., Lugaresi, E. and Montagna, P. (1998). "Leber's Hereditary Optic Neuropathy (LHON) with 14484/ND6 mutation in a North African patient." Journal of the Neurological Sciences 160(2):183-188.

Carelli, V., Ghelli, A., Bucchi, L., Montagna, P., De Negri, A., Leuzzi, V., Carducci, C., Lenaz, G., Lugaresi, E. and Degli Esposti, M. (1999). "Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy." Annals of Neurology 45(3):320-328.

Carelli, V., Ghelli, A., Ratta, M., Bacchilega, E., Sangiorgi, S., Mancini, R., Leuzzi, V., Cortelli, P., Montagna, P., Lugaresi, E. and Degli Esposti, M. (1997). "Leber's hereditary optic neuropathy: biochemical effect of 11778/ND4 and 3460/ND1 mutations and correlation with the mitochondrial genotype." Neurology 48(6):1623-1632.

Carlsson, L. M., Jonsson, J., Edlund, T. and Marklund, S. L. (1995). "Mice lacking extracellular superoxide dismutase are more sensitive to hyperoxia." Proceedings of the National Academy of Sciences of the United States of America 92(14):6264-6268.

Carrero-Valenzuela, R. D., Quan, F., Lightowlers, R., Kennaway, N. G., Litt, M. and Forte, M. (1991). "Human cytochrome c oxidase subunit VIb: characterization and mapping of a multigene family." Gene 102(2):229-236.

Carroll, W. M. and Mastaglia, F. L. (1979). "Leber's optic neuropathy: a clinical and visual evoked potential study of affected and asymptomatic members of a six generation family." Brain 102(3):559-580.

Carrozzo, R., Hirano, M., Fromenty, B., Casali, C., Santorelli, F. M., Bonilla, E., DiMauro, S., Schon, E. A. and Miranda, A. F. (1998). "Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses." Neurology 50(1):99-106.

Casademont, J., Barrientos, A., Cardellach, F., Rotig, A., Grau, J. M., Montoya, J., Beltran, B., Cervantes, F., Rozman, C., Estivill, X., Urbano-Marques, A. and Nunes (1994). "Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother." Human Molecular Genetics 3(11):1945-1949.

Casali, C., Santorelli, F. M., D'Amati, G., Bernucci, P., DeBiase, L. and DiMauro, S. (1995). "A novel mtDNA point mutation in maternally inherited cardiomyopathy." Biochemical and Biophysical Research Communications 213(2):588-593.

Casano, R. A., Bykhovskaya, Y., Johnson, D. F., Hamon, M., Torricelli, F., Bigozzi, M. and Fischel-Ghodsian, N. (1998). "Hearing loss due to the mitochondrial A1555G mutation in Italian families." American Journal of Medical Genetics 79(5):388-391.

Casari, G., De Fusco, M., Ciarmatori, S., Zeviani, M., Mora, M., Fernandez, P., De Michele, G., Filla, A., Cocozza, S., Marconi, R., Durr, A., Fontaine, B. and Ballabio, A. (1998). "Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease." Cell 93(6):973-983.

Case, J. T. and Wallace, D. C. (1981). "Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts." Somatic Cell Genetics 7(1):103-108.

Cassard, A. M., Bouillaud, F., Mattei, M. G., Hentz, E., Raimbault, S., Thomas, M. and Ricquier, D. (1990). "Human uncoupling protein gene: structure, comparison with rat gene, and assignment to the long arm of chromosome 4." Journal of Cellular Biochemistry 43(3):255-264.

Cassarino, D. S., Swerdlow, R. H., Parks, J. K., Parker, W. D., Jr. and Bennett, J. P., Jr. (1998). "Cyclosporin A increases resting mitochondrial membrane potential in SY5Y cells and reverses the depressed mitochondrial membrane potential of Alzheimer's disease cybrids." Biochemical & Biophysical Research Communications 248(1):168-173.

Caux, C., Favre, C., Saeland, S., Duvert, V., Durand, I., Mannoni, P. and Banchereau, J. (1991). "Potentiation of early hematopoiesis by tumor necrosis factor-alpha is followed by inhibition of granulopoietic differentiation and proliferation." Blood 78(3):635-644.

Cavalier-Smith, T. (1997). "Cell and genome coevolution: facultative anaerobiosis, glycosomes and kinetoplastan RNA editing." Trends in Genetics 13(1):6-9.

Cavalli-Sforza, L. L. (1998). "The DNA revolution in population genetics." Trends in Genetics 14(2):60-65.

Cavelier, L., Gyllensten, U. and Dahl, N. (1993). "Intrafamilial variation in Leber hereditary optic neuropathy revealed by direct mutation analysis." Clinical Genetics 43(2):69-72.

Caviani Pease, A., Solas, D., Sullivan, E. J., Cronin, M. T., Holmes, C. P. and Fodor, S. P. A. (1994). "Light-generated oligonucleotide arrays for rapid DNA sequence analysis." Proceedings of the National Academy of Sciences of the United States of America 91(11):5022-5026.

Chada, S., Le Beau, M. M., Casey, L. and Newburger, P. E. (1990). "Isolation and chromosomal localization of the human glutathione peroxidase gene." Genomics 6(2):268-271.

Chagnon, P., Gee, M., Filion, M., Robitaille, Y., Belouchi, M. and Gauvreau, D. (1999). "Phylogenetic analysis of the mitochondrial genome indicates significant differences between patients with Alzheimer disease and controls in a French-Canadian founder population." American Journal of Medical Genetics 85(1):20-30.

Chakrapani, A., Heptinstall, L. and Walter, J. (1998). "A family with Leigh syndrome caused by the rarer T8993C mutation." Journal of Inherited Metabolic Disease 21(6):685-686.

Chalmers, R. M. and Schapira, A. H. (1999). "Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1410(2):147-158.

Chalmers, R. M., Davis, M. B., Sweeney, M. G., Wood, N. W. and Harding, A. E. (1996). "Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy." American Journal of Human Genetics 59(1):103-108.

Chalmers, R. M., Lamont, P. J., Nelson, I., Ellison, D. W., Thomas, N. H., Harding, A. E. and Hammans, S. R. (1997). "A mitochondrial DNA tRNA(Val) point mutation associated with adult-onset Leigh syndrome." Neurology 49(2):589-592.

Chalmers, R. M., Robertson, N., Kellar-Wood, H., Compston, D. A. and Harding, A. E. (1995). "Sequence of the human homologue of a mitochondrially encoded murine transplantation antigen in patients with multiple sclerosis." Journal of Neurology 242(5):332-334.

Chance, B. and Williams, G. R. (1955). "Respiratory enzymes in oxidative phosphorylation." Journal of Biological Chemistry 217(383):438.

Chance, B., Sies, H. and Boveris, A. (1979). "Hydroperoxide metabolism in mammalian organs." Physiological Reviews 59(3):527-605.

Chandler, J. M., Cohen, G. M. and MacFarlane, M. (1998). "Different subcellular distribution of caspase-3 and caspase-7 following Fas-induced apoptosis in mouse liver." Journal of Biological Chemistry 273(18):10815-10818.

Chandrasekaran, K., Hatanpaa, K., Rapoport, S. I. and Brady, D. R. (1997). "Decreased expression of nuclear and mitochondrial DNA-encoded genes of oxidative phosphorylation in association neocortex in Alzheimer disease." Brain Research. Molecular Brain Research 44(1):99-104.

top of page

Chang, B., Bronson, R. T., Hawes, N. L., Roderick, T. H., Peng, C., Hageman, G. S. and Heckenlively, J. R. (1994). "Retinal degeneration in motor neuron degeneration: a mouse model for ceroid lipofuscinosis." Investigative Ophthalmology and Visual Science 35(3):1071-1076.

Chang, B., Heckenlively, J. R., Hawes, N. L. and Roderick, T. H. (1993). "New mouse primary rentinal degeneration (rd-3)." Genomics 16(1):45-49.

Chang, D. D. and Clayton, D. A. (1984). "Precise identification of individual promoter for transcription of each strand of human mitochondrial DNA." Cell 36(3):635-643.

Chang, D. D. and Clayton, D. A. (1985). "Priming of human mitochondrial DNA replication occurs at the light-strand promoter." Proceedings of the National Academy of Sciences of the United States of America 82(2):351-355.

Chang, D. D. and Clayton, D. A. (1987). "A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA." Science 235(4793):1178-1184.

Chang, D. D. and Clayton, D. A. (1987). "A novel endoribonuclease cleaves at a priming site of mouse mitochondrial DNA replication." EMBO Journal 6(2):409-417.

Chang, D. D. and Clayton, D. A. (1989). "Mouse RNAase MRP RNA is encoded by a nuclear gene and contains a decamer sequence complementary to a conserved region of mitochondrial RNA substrate." Cell 56(1):131-139.

Chang, D. D., Hixson, J. E. and Clayton, D. A. (1986). "Minor transcription initiation events indicate that both human mitochondrial promoters function bidirectionally." Molecular and Cellular Biology 6(1):294-301.

Chang, T. S., Johns, D. R., Walker, D., de la Cruz, Z., Maumence, I. H. and Green, W. R. (1993). "Ocular clinicopathologic study of the mitochondrial encephalomyopathy overlap syndromes." Archives of Ophthalmology 111(9):1254-1262.

Chapiro, E., Feldmann, D., Denoyelle, F., Sternberg, D., Jardel, C., Eliot, M. M., Bouccara, D., Weil, D., Garabedian, E. N., Couderc, R., Petit, C. and Marlin, S. (2002). "Two large French pedigrees with non syndromic sensorineural deafness and the mitochondrial DNA T7511C mutation: evidence for a modulatory factor." European Journal of Human Genetics 10(12):851-856.

Chartier-Harlin, M. C., Crawford, F., Houlden, H., Warren, A., Hughes, D., Fidani, L., Goate, A., Rossor, M., Roques, P., Hardy, J. and Mullan, M. (1991). "Early-onset Alzheimer's disease caused by mutations at codon 717 of the beta-amyloid precursor protein gene." Nature 353(6347):844-846.

Checcarelli, N., Prelle, A., Moggio, M., Comi, G., Bresolin, N., Papadimitriou, A., Fagiolari, G., Bordoni, A. and Scarlato, G. (1994). "Multiple deletions of mitochondrial DNA in sporadic and atypical cases of encephalomyopathy." Journal of the Neurological Sciences 123(1-2):74-79.

Checkoway, H., Farin, F. M., Costa-Mallen, P., Kirchner, S. C. and Costa, L. G. (1998). "Genetic polymorphisms in Parkinson's disease." Neurotoxicology 19(4-5):635-643.

Chee, M., Yang, R., Hubbell, E., Berno, A., Huang, X. C., Stern, D., Winkler, J., Lockhart, D. J., Morris, M. S. and Fodor, S. P. A. (1996). "Accessing genetic information with high-density DNA arrays." Science 274(5287):610-614.

Chen, G. J. and Watson, R. R. (1991). "Modulation of tumor necrosis factor and gamma interferon production by cocaine and morphine in aging mice infected with LP-BM5, a murine retrovirus." Journal of Leukocyte Biology 50(4):349-355.

Chen, G., Wilson, R., Cumming, G., Walker, J. J., Smith, W. E. and McKillop, J. H. (1993). "Prostacyclin, thromboxane and antioxidant levels in pregnancy-induced hypertension." European Journal of Obstetrics, Gynecology, & Reproductive Biology 50(3):243-250.

Chen, H., Morris, M. A., Rossier, C., Blouin, J. L. and Antonarakis, S. E. (1995). "Cloning of the cDNA for the human ATP synthase OSCP subunit (ATP5O) by exon trapping and mapping to chromosome 21q22.1-q22.2." Genomics 28(3):470-476.

Chen, J. and Hebert, P. D. (1998). "Directed termination PCR: a one-step approach to mutation detection." Nucleic Acids Research 26(6):1546-1547.

Chen, J. D. and Denton, M. J. (1991). "X-chromosomal gene in Leber hereditary optic neuroretinopathy." American Journal of Human Genetics 49(3):692-693.

Chen, J. J., McNealy, D. J., Dalal, S. and Androphy, E. J. (1994). "Isolation, sequence analysis and characterization of a cDNA encoding human chaperonin 10." Biochimica et Biophysica Acta 1219(1):189-190.

Chen, J. N., Ho, K. Y. and Juan, K. H. (1998). "Sensorineural hearing loss in MELAS syndrome--case report." Kao-Hsiung i Hsueh Ko Hsueh Tsa Chih [Kaohsiung Journal of Medical Sciences] 14(8):519-523.

Chen, L. H., Huang, C. Y., Osio, Y., Fitzpatrick, E. A. and Cohen, D. A. (1993). "Effects of chronic alcohol feeding and murine AIDS virus infection on liver antioxidant defense systems in mice." Alcoholism: Clinical and Experimental Research 17(5):1022-1028.

Chen, L. H., Xi, S. and Cohen, D. A. (1996). "Liver endogenous antioxidant defenses in mice fed AIN-76A diet and infected with murine AIDS." Chemico-Biological Interactions 99(1-3):17-28.

Chen, R. S., Huang, C. C., Chu, N. S., Chu, C. C., Shih, K. D., Pang, C. Y. and Wei, Y. H. (1996). "Tissue distribution of mutant mitochondrial DNA in a patient with MERRF syndrome." Muscle and Nerve 19(4):519-521.

Chen, R. S., Huang, C. C., Lee, C. C., Wai, Y. Y., Hsi, M. S., Pang, C. Y. and Wei, Y. H. (1993). "Overlapping syndrome of MERRF and MELAS: molecular and neuroradiological studies." Acta Neurologica Scandinavica 87:494-498.

Chen, S. and Guillory, R. J. (1981). "Studies on the interaction of arylazido-beta-alanyl NAD+ with the mitochondrial NADH dehydrogenase." Journal of Biological Chemistry 256:8318-8323.

Chen, S. T., Chang, C. D., Huebner, K., Ku, D. H., McFarland, M., DeRiel, J. K., Baserga, R. and Wurzel, J. (1990). "A human ADP/ATP translocase gene has seven pseudogenes and localizes to chromosome X." Somatic Cell and Molecular Genetics 16(2):143-149.

Chen, T. J., Boles, R. G. and Wong, L. J. (1999). "Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis [see comments]." Clinical Chemistry 45(8 Pt 1):1162-1167.

Chen, T. J., Boles, R. G. and Wong, L. J. (1999). "Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis [see comments]." Clinical Chemistry 45(8 Pt 1):1162-1167.

Chen, X., Bonilla, E., Sciacco, M. and Schon, E. A. (1995). "Paucity of deleted mitochondrial DNAs in brain regions of Huntington's disease patients." Biochimica et Biophysica Acta 1271(1):229-233.

Chen, X., Prosser, R., Simonetti, S., Sadlock, J., Jagiello, G. and Schon, E. A. (1995). "Rearranged mitochondrial genomes are present in human oocytes." American Journal of Human Genetics 57(2):239-247.

Chen, Y. S., Olckers, A., Schurr, T. G., Kogelnik, A. M., Huoponen, K. and Wallace, D. C. (2000). "mtDNA variation in the South African Kung and Khwe and their genetic relationships to other African populations." American Journal of Human Genetics 66(4):1362-1383.

Chen, Y. S., Torroni, A., Excoffier, L., Santachiara-Benerecetti, A. S. and Wallace, D. C. (1995). "Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups." American Journal of Human Genetics 57(1):133-149.

Cheney, K. E., Liu, R. K., Smith, G. S., Leung, R. E., Mickey, M. R. and Walford, R. L. (1980). "Survival and disease patterns in C57BL/6J mice subjected to undernutrition." Experimental Gerontology 15(4):237-258.

Cheng, K. C., Cahill, D. S., Kasai, H., Nishimura, S. and Loeb, L. A. (1992). "8-Hydroxyguanine, an abundant form of oxidative DNA damage, causes G----T and A----C substitutions." Journal of Biological Chemistry 267(1):166-172.

Cheng, L., Fu, J., Tsukamoto, A. and Hawley, R. G. (1996). "Use of green fluorescent protein variants to monitor gene transfer and expression in mammalian cells [see comments]." Nature Biotechnology 14(5):606-609.

Cheng, S., Higuchi, R. and Stoneking, M. (1994). "Complete mitochondrial genome amplification." Nature Genetics 7(3):350-351.

Cheshier, J. E., Ardestani-Kaboudanian, S., Liang, B., Araghiniknam, M., Chung, S., Lane, L., Castro, A. and Watson, R. R. (1996). "Immunomodulation by pycnogenol in retrovirus-infected or ethanol-fed mice." Life Sciences 58(5):87-96.

Ching, E. and Attardi, G. (1982). "High-resolution electrophoretic fractionation and partial characterization of the mitochondrial translation products from HeLa cells." Biochemistry 21(13):3188-3195.

Chinnery, P. F. (2003). "Searching for nuclear-mitochondrial genes." Trends in Genetics 19(2):60-62.

Chinnery, P. F., Howel, D., Turnbull, D. M. and Johnson, M. A. (2003). "Clinical progression of mitochondrial myopathy is associated with the random accumulation of cytochrome c oxidase negative skeletal muscle fibres." Journal of the Neurological Sciences 211(1-2):63-66.

Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1997). "Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes." Brain 120(Pt 10):1713-1721.

Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1998). "Genetic counseling and prenatal diagnosis for mtDNA disease [letter]." American Journal of Human Genetics 63(6):1908-1911.

Chinnery, P. F., Howell, N., Lightowlers, R. N. and Turnbull, D. M. (1998). "MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring." Brain 121(Pt 10):1889-1894.

Chinnery, P. F., Johnson, M. A., Taylor, R. W., Lightowlers, R. N. and Turnbull, D. M. (1997). "A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis." Annals of Neurology 41(3):408-410.

Chinnery, P. F. and Schon, E. A. (2003). "Mitochondria." Journal of Neurology, Neurosurgery and Psychiatry 74(9):1188-1199.

Chinnery, P. F., Thorburn, D. R., Samuels, D. C., White, S. L., Dahl, H. M., Turnbull, D. M., Lightowlers, R. N. and Howell, N. (2000). "The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both?" Trends in Genetics 16(11):500-505.

Chinnery, P.F. and Turnbull, D.M. (1997)."Mitochondrial medicine [see comments]." Quarterly Journal of Medicine 90(11):657-667.

Chinnery, P.F. and Turnbull, D.M. (1998)."Vomiting, anorexia, and mitochondrial DNA disease [letter; comment]." Lancet 351(9100):448.

Chinnery, P.F. and Turnbull, D.M. (1999)."Mitochondrial DNA and disease." Lancet 354(Suppl 1):SI17-21.

Chinnery, P.F. and Turnbull, D.M. (2001). "Epidemiology and treatment of mitochondrial disorders." American Journal of Medical Genetics 106(1):94-101.

Chinnery, P.F., Johnson, M.A., Wardell, T.M., Singh-Kler, R., Hayes, C., Brown, D.T., Taylor, R.W., Bindoff, L.A. and Turnbull, D.M. (2000). "The epidemiology of pathogenic mitochondrial DNA mutations." Annals of Neurology 48(2):188-193.

Chinnery, P.F., Turnbull, D. M., Walls, T. J. and Reading, P. J. (1997)."Recurrent strokes in a 34-year-old man [see comments]." Lancet 350(9077):560.

Chinnery, P.F., Turnbull, D.M., Howell, N. and Andrews, R.M. (1998)."Mitochondrial DNA mutations and pathogenicity [letter]." Journal of Medical Genetics 35(8):701-702.

Chiorini, J. A., Wendtner, C. M., Urcelay, E., Safer, B., Hallek, M. and Kotin, R. M. (1995). "High-efficiency transfer of the T cell co-stimulatory molecule B7-2 to lymphoid cells using high-titer recombinant adeno-associated virus vectors." Human Gene Therapy 6(12):1531-1541.

top of page

Chol, M., Lebon, S., Benit, P., Chretien, D., de Lonlay, P., Goldenberg, A., Odent, S., Hertz-Pannier, L., Vincent-Delorme, C., Cormier-Daire, V., Rustin, P., Rotig, A. and Munnich, A. (2003). "The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency." Journal of Human Genetics 40(3):188-191.

Chomyn, A. (1998). "The myoclonic epilepsy and ragged-red fiber mutation provides new insights into human mitochondrial function and genetics." American Journal of Human Genetics 62(4):745-751.

Chomyn, A., Cleeter, W. J., Ragan, C. I., Riley, M., Doolittle, R. F. and Attardi, G. (1986). "URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit." Science 234(4776):614-618.

Chomyn, A., Enriquez, J. A., Micol, V., Fernandez-Silva, P. and Attardi, G. (2000). "The mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode syndrome-associated human mitochondrial tRNALeu(UUR) mutation causes aminoacylation deficiency and concomitant reduced association of mRNA with ribosomes." Journal of Biological Chemistry 275(25):19198-19209.

Chomyn, A., Lai, S. T., Shakeley, R., Bresolin, N., Scarlato, G. and Attardi, G. (1994). "Platelet-mediated transformation of mtDNA-less human cells: analysis of phenotypic variability among clones from normal individuals and complementation behavior of the tRNALys mutation causing myoclonic epilepsy and ragged red fibers." American Journal of Human Genetics 54(6):966-974.

Chomyn, A., Mariottini, P., Cleeter, W. J., Ragan, C. I., Matsuno-Yagi, A., Hatefi, Y., Doolittle, R. F. and Attardi, G. (1985). "Six unidentified reading frames of human mitochondrial DNA encode components of the respiratory-chain NADH dehydrogenase." Nature 314(6012):592-597.

Chomyn, A., Mariottini, P., Gonzalez-Cadavid, N., Attardi, G., Strong, D. D., Trovato, D., Riley, M. and Doolittle, R. F. (1983). "Identification of the polypeptides encoded in the ATPase 6 gene and in the unassigned reading frames 1 and 3 of human mtDNA." Proceedings of the National Academy of Sciences of the United States of America 80(18):5535-5539.

Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D., Lai, S. T., Nonaka, I., Angelini, C. and Attardi, G. (1992). "MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts." Proceedings of the National Academy of Sciences of the United States of America 89(10):4221-4225.

Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G. and Attardi, G. (1991). "In vitro genetic transfer of protein synthesis and respiration defects to mitochondrial DNA-less cells with myopathy-patient mitochondria." Molecular and Cellular BIology 11(4):2236-2244.

Chow, W., Ragan, I. and Robinson, B. H. (1991). "Determination of the cDNA sequence for the human mitochondrial 75-kDa Fe-S protein of NADH-coenzyme Q reductase." European Journal of Biochemistry 201(3):547-550.

Chowers, I., Lerman-Sagie, T., Elpeleg, O. N., Shaag, A. and Merin, S. (1999). "Cone and rod dysfunction in the NARP syndrome." British Journal of Ophthalmology 83(2):190-193.

Christianson, T. W. and Clayton, D. A. (1986). "In vitro transcription of human mitochondrial DNA: accurate termination requires a region of DNA sequence that can function bidirectionally." Proceedings of the National Academy of Sciences of the United States of America 83(17):6277-6281.

Christianson, T. W. and Clayton, D. A. (1988). "A tridecamer DNA sequence supports human mitochondrial RNA 3'-end formation in vitro." Molecular and Cellular Biology 8(10):4502-4509.

Chu, C. C., Huang, C. C., Fang, W., Chu, N. S., Pang, C. Y. and Wei, Y. H. (1997). "Peripheral neuropathy in mitochondrial encephalomyopathies." European Neurology 37(2):110-115.

Chu, E. H., Sun, N. C. and Chang, C. C. (1972). "Induction of auxotrophic mutations by treatment of Chinese hamster cells with 5-bromodeoxyuridine and black light." Proceedings of the National Academy of Sciences of the United States of America 69(11):3459-3463.

Chu, F. F. (1994). "The human glutathione peroxidase genes GPX2, GPX3, and GPX4 map to chromosomes 14, 5, and 19, respectively." Cytogenetics and Cell Genetics 66(2):96-98.

Chu, F. F., Doroshow, J. H. and Esworthy, R. S. (1993). "Expression, characterization, and tissue distribution of a new cellular selenium-dependent glutathione peroxidase, GSHPx-GI." Journal of Biological Chemistry 268(4):2571-2576.

Chu, F. F., Rohan de Silva, H. A., Esworthy, R. S., Boteva, K. K., Walters, C. E., Roses, A., Rao, P. N. and Pettenati, M. J. (1996). "Polymorphism and chromosomal localization of the GI-form of human glutathione peroxidase (GPX2) on 14q24.1 by in situ hybridization." Genomics 32(2):272-276.

Chun, K., Mackay, N., Willard, H. F. and Robinson, B. H. (1990). "Isolation, characterization and chromosomal localization of cDNA clones for the E1 beta subunit of the pyruvate dehydrogenase complex." European Journal of Biochemistry 194(2):587-592.

Chung, A. B., Stepien, G., Haraguchi, Y., Li, K. and Wallace, D. C. (1992). "Transcriptional control of nuclear genes for the mitochondrial muscle ADP/ATP translocator and the ATP synthase beta subunit. Multiple factors interact with the OXBOX/REBOX promoter sequences." Journal of Biological Chemistry 267(29):21154-21161.

Chung, M. H., Kasai, H., Nishimura, S. and Yu, B. P. (1992). "Protection of DNA damage by dietary restriction." Free Radic Biol Med 12(6):523-525.

Church, S. L. (1990). "Manganese superoxide dismutase: nucleotide and deduced amino acid sequence of a cDNA encoding a new human transcript [published erratum appears in Biochim Biophys Acta 1993 Jan 23;1171(3):341]." Biochimica et Biophysica Acta 1087(2):250-252.

Church, S. L., Grant, J. W., Meese, E. U. and Trent, J. M. (1992). "Sublocalization of the gene encoding manganese superoxide dismutase (MnSOD/SOD2) to 6q25 by fluorescence in situ hybridization and somatic cell hybrid mapping." Genomics 14(3):823-825.

Ciafaloni, E., Ricci, E., Servidei, S., Shanske, S., Silvestri, G., Manfredi, G., Schon, E. A. and DiMauro, S. (1991). "Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome." Neurology 41(10):1663-1665.

Ciafaloni, E., Ricci, E., Shanske, S., Moraes, C. T., Silvestri, G., Hirano, M., Simonetti, S., Angelini, C., Donati, M. A., Garcia, C., Martinuzzi, A., Moxewich, R., Servidei, S., Zammarchi, E., Bonilla, E., Rowland, L. P., Schon, E. A. and DiMauro, S. (1992). "MELAS: clinical features, biochemistry, and molecular genetics." Annals of Neurology 31(4):391-398.

Ciafaloni, E., Santorelli, F. M., Shanske, S., Deonna, T., Roulet, E., Janzer, C., Pescia, G. and DiMauro, S. (1993). "Maternally inherited Leigh syndrome." Journal of Pediatrics 122(3):419-422.

Ciafaloni, E., Shanske, S., Apostolski, S., Griggs, R. L., Bird, T. D., Sumi, M. and DiMauro, S. (1991). "Multiple deletions of mitochondrial DNA." Neurology 41(Supplement 1):207.

Citron, M., Oltersdorf, T., Haass, C., McConlogue, L., Hung, A. Y., Seubert, P., Vigo-Pelfrey, C., Lieberburg, I. and Selkoe, D. J. (1992). "Mutation of the beta-amyloid precursor protein in familial Alzheimer's disease increases beta-protein production." Nature 360(6405):672-674.

Civin, C. I., Strauss, L. C., Brovall, C., Fackler, M. J., Schwartz, J. F. and Shaper, J. H. (1984). "Antigenic analysis of hematopoiesis. III. A hematopoietic progenitor cell surface antigen defined by a monoclonal antibody raised against KG-1a cells." Journal of Immunology 133(1):157-165.

Clark, G. A. (1997). "Neandertal genetics [letter]." Science 277(5329):1024-1025.

Clark, K. M., Bindoff, L. A., Lightowlers, R. N., Andrews, R. M., Griffiths, P. G., Johnson, M. A., Brierley, E. J. and Turnbull, D. M. (1997). "Reversal of a mitochondrial DNA defect in human skeletal muscle [letter]." Nature Genetics 16(3):222-224.

Clark, K. M., Taylor, R. W., Johnson, M. A., Chinnery, P. F., Chrzanowska-Lightowlers, Z. M., Andrews, R. M., Nelson, I. P., Wood, N. W., Lamont, P. J., Hanna, M. G., Lightowlers, R. N. and Turnbull, D. M. (1999). "An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy." American Journal of Human Genetics 64(5):1330-1339.

Clark, K. M., Watt, D. J., Lightowlers, R. N., Johnson, M. A., Relvas, J. B., Taanman, J. W. and Turnbull, D. M. (1998). "SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects." Journal of Clinical Investigation 102(12):2090-2095.

Clark, M. and Post, R. M. (1990). "Lidocaine binds with high affinity to peripheral-type benzodiazepine receptors." European Journal of Pharmacology 179(3):473-475.

Clarke, G. D. and Ryan, P. J. (1980). "Tranquillizers can block mitogenesis in 3T3 cells and induce differentiation in Friend cells." Nature 287(5778):160-161.

Clarkson, G. H., Neagle, J. and Lindsay, J. G. (1991). "Topography of succinate dehydrogenase in the mitochondrial inner membrane. A study using limited proteolysis and immunoblotting." Biochemical Journal 273(Pt 3):719-724.

Claycamp, H. G. (1992). "Phenol sensitization of DNA to subsequent oxidative damage in 8-hydroxyguanine assays." Carcinogenesis 13(7):1289-1292.

Clayton, D. A. (1982). "Replication of animal mitochondrial DNA." Cell 28(4):693-705.

Clayton, D. A. (1984). "Transcription of the mammalian mitochondrial genome." Annual Review of Biochemistry 53:573-594.

Clayton, D. A. (1994). "A nuclear function for RNase MRP." Proceedings of the National Academy of Sciences of the United States of America 91(11):4615-4617.

Clayton, D. A. (1998). "Nuclear-mitochondrial intergenomic communication." Biofactors 7(3):203-205.

Clayton, D. A., Doda, J. N. and Friedberg, E. C. (1974). "The absence of a pyrimidine dimer repair mechanism in mammalian mitochondria." Proceedings of the National Academy of Sciences of the United States of America 71(7):2777-2781.

Cleary, M. L., Smith, S. D. and Sklar, J. (1986). "Cloning and structural analysis of cDNAs for bcl-2 and a hybrid bcl- 2/immunoglobulin transcript resulting from the t(14;18) translocation." Cell 47(1):19-28.

Cleeter, M. W., Cooper, J. M. and Schapira, A. H. (1992). "Irreversible inhibition of mitochondrial complex I by 1-methyl-4-phenylpyridinium: evidence for free radical involvement." Journal of Neurochemistry 58(2):786-789.

Clift, R. A., Buckner, C. D., Thomas, E. D., Kopecky, K. J., Appelbaum, F. R., Tallman, M., Storb, R., Sanders, J., Sullivan, K., Banaji, M. and et al. (1987). "The treatment of acute non-lymphoblastic leukemia by allogeneic marrow transplantation." Bone Marrow Transplantation 2(3):243-258.

Cochran, B., Capaldi, R. A. and Ackrell, B. A. (1994). "The cDNA sequence of beef heart CII-3, a membrane-intrinsic subunit of succinate-ubiquinone oxidoreductase." Biochim Biophys Acta 1188(1-2):162-166.

Cock, H. and Schapira, A. H. (1999). "Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy." Epilepsia 40(Suppl 3):33-40.

Cock, H. R., Cooper, J. M. and Schapira, A. H. (1995). "The 14484 ND6 mtDNA mutation in Leber hereditary optic neuropathy does not affect fibroblast complex I activity [letter]." American Journal of Human Genetics 57(6):1501-1502.

Cock, H. R., Cooper, J. M. and Schapira, A. H. (1999). "Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy [see comments]." Journal of the Neurological Sciences 165(1):10-17.

Cock, H. R., Tabrizi, S. J., Cooper, J. M. and Schapira, A. H. (1998). "The influence of nuclear background on the biochemical expression of 3460 Leber's hereditary optic neuropathy." Annals of Neurology 44(2):187-193.

Cock, H., Mandler, R., Ahmed, W. and Schapira, A. H. (1997). "Neuromyelitis optica (Devic's syndrome): no association with the primary mitochondrial DNA mutations found in Leber hereditary optic neuropathy." Journal of Neurology, Neurosurgery & Psychiatry 62(1):85-87.

top of page

Cohen, S., Regev, A. and Lavi, S. (1997). "Small polydispersed circular DNA (spcDNA) in human cells: association with genomic instability." Oncogene 14(8):977-985.

Coleman, W. B. and Cunningham, C. C. (1990). "Effects of chronic ethanol consumption on the synthesis of polypeptides encoded by the hepatic mitochondrial genome." Biochimica et Biophysica Acta 1019(2):142-150.

Coleman, W. B. and Cunningham, C. C. (1991). "Effect of chronic ethanol consumption on hepatic mitochondrial transcription and translation." Biochimica et Biophysica Acta 1058(2):178-186.

Collins, J. M. and Foster, K. A. (1983). "Differentiation of promyelocytic (HL-60) cells into mature granulocytes: mitochondrial-specific rhodamine 123 fluorescence." Journal of Cell Biology 96(1):94-99.

Collins, S., Dennett, X., Byrne, E. and Marzuki, S. (1991). "Chronic progressive external ophthalmoplegia in patients with large heteroplasmic mitochondrial DNA deletions: an immunocytochemical study." Acta Neuropathologica 82(3):185-192.

Collinson, I. R., Fearnley, I. M., Skehel, J. M., Runswick, M. J. and Walker, J. E. (1994). "ATP synthase from bovine heart mitochondria: identification by proteolysis of sites in F0 exposed by removal of F1 and the oligomycin-sensitivity conferral protein." Biochemical Journal 303(Pt 2):639-645.

Collinson, I. R., Runswick, M. J., Buchanan, S. K., Fearnley, I. M., Skehel, J. M., van Raaij, M. J., Griffiths, D. E. and Walker, J. E. (1994). "F0 membrane domain of ATP synthase from bovine heart mitochondria: purification, subunit composition, and reconstitution with F1-ATPase." Biochemistry 33(25):7971-7978.

Collinson, I. R., van Raaij, M. J., Runswick, M. J., Fearnley, I. M., Skehel, J. M., Orriss, G. L., Miroux, B. and Walker, J. E. (1994). "ATP synthase from bovine heart mitochondria. In vitro assembly of a stalk complex in the presence of F1-ATPase and in its absence." Journal of Molecular Biology 242(4):408-421.

Collombet, J. M., Faure-Vigny, H., Mandon, G., Dumoulin, R., Boissier, S., Bernard, A., Mousson, B. and Stepien, G. (1997). "Expression of oxidative phosphorylation genes in muscle cell cultures from patients with mitochondrial myopathies." Molecular & Cellular Biochemistry 168(1-2):73-85.

Colombo, I., Finocchiaro, G., Garavaglia, B., Garbuglio, N., Yamaguchi, S., Frerman, F. E., Berra, B. and DiDonato, S. (1994). "Mutations and polymorphisms of the gene encoding the beta-subunit of the electron transfer flavoprotein in three patients with glutaric acidemia type II." Human Molecular Genetics 3(3):429-435.

Comi, G. P., Bordoni, A., Salani, S., Franceschina, L., Sciacco, M., Prelle, A., Fortunato, F., Zeviani, M., Napoli, L., Bresolin, N., Moggio, M., Ausenda, C. D., Taanman, J. W. and Scarlato, G. (1998). "Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease." Annals of Neurology 43(1):110-116.

Connern, C. P. and Halestrap, A. P. (1992). "Purification and N-terminal sequencing of peptidyl-prolyl cis-trans- isomerase from rat liver mitochondrial matrix reveals the existence of a distinct mitochondrial cyclophilin." Biochemical Journal 284(Pt 2):381-385.

Cooper, A., Poinar, H. N., Paabo, S., Radovcic, J., Debenath, A., Caparros, M., Barroso-Ruiz, C., Bertranpetit, J., Nielsen-Marsh, C., Hedges, R. E. and Sykes, B. (1997). "Neandertal genetics [letter; comment]." Science 277(5329):1021-1024.

Cooper, J. M., Mann, V. M. and Schapira, A. H. V. (1992). "Analyses of mitochondrial respiratory chain function and mitochondrial DNA deletion in human skeletal muscle: effect of ageing." Journal of the Neurological Sciences 113(1):91-98.

Coppel, R. L., McNeilage, L. J., Surh, C. D., Van de Water, J., Spithill, T. W., Whittingham, S. and Gershwin, M. E. (1988). "Primary structure of the human M2 mitochondrial autoantigen of primary biliary cirrhosis: dihydrolipoamide acetyltransferase." Proceedings of the National Academy of Sciences of the United States of America 85(19):7317-7321.

Corder, E. H., Saunders, A. M., Strittmatter, W. J., Schmechel, D. E., Gaskell, P. C., Small, G. W., Roses, A. D., Haines, J. L. and Pericak-Vance, M. A. (1993). "Gene dose of apolipoprotein E type 4 allele and the risk of Alzheimer's disease in late onset families." Science 261(5123):921-923.

Cormier, V., Rotig, A., Bonnefont, J. P., Mechinand, F., Berthou, C., Goulet, O., Schmitz, J., Blanche, S., Vassaut, A. and Maier, M. (1991). "Pearson's syndrome. Pancytopenia with exocrine pancreatic insufficiency: new mitochondrial disease in the first year of childhood." Archives Francaises de Pediatrie 48(3):171-178.

Cormier, V., Rotig, A., Quartino, A. R., Forni, G. L., Cerone, R., Maier, M., Saudubray, J. M. and Munnich, A. (1990). "Widespread multitissue deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome." Journal of Pediatrics 117(4):599-602.

Cormier, V., Rotig, A., Tardieu, M., Colonna, M., Saudubray, J. M. and Munnich, A. (1991). "Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy." American Journal of Human Genetics 48(4):643-648.

Cormier-Daire, V., Bonnefont, J. P., Rustin, P., Maurage, C., Ogler, H., Schmitz, J., Ricour, C., Saudubray, J. M., Munnich, A. and Rotig, A. (1994). "Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrofia." Journal of Pediatrics 124(1):63-70.

Corona, P., Lamantea, E., Greco, M., Carrara, F., Agostino, A., Guidetti, D., Dotti, M. T., Mariotti, C. and Zeviani, M. (2002). "Novel heteroplasmic mtDNA mutation in a family with heterogeneous clinical presentations." Annals of Neurology 51(1):118-122.

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Beal, M. F. and Wallace, D. C. (1992). "Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age." Nature Genetics 2(4):324-329.

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H. and Wallace, D. C. (1994). "Marked changes in mitochondrial DNA deletion levels in Alzheimer brains." Genomics 23(2):471-476.

Corral-Debrinski, M., Shoffner, J. M., Lott, M. T. and Wallace, D. C. (1992). "Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease." Mutation Research 275(3-6):169-180.

Corral-Debrinski, M., Stepien, G., Shoffner, J. M., Lott, M. T., Kanter, K. and Wallace, D. C. (1991). "Hypoxemia is associated with mitochondrial DNA damage and gene induction." JAMA 266(13):1812-1816.

Cortelli, P., Montagna, P., Avoni, P., Sangiorgi, S., Bresolin, N., Moggio, M., Zaniol, P., Mantovani, V., Barboni, P., Barbiroli, B. and Lugaresi, E. (1991). "Leber's hereditary optic neuropathy: genetic, biochemical, and phosphorus magnetic resonance spectroscopy study in an Italian family." Neurology 41(8):1211-1215.

Cortelli, P., Montagna, P., Pierangeli, G., Lodi, R., Barboni, P., Liguori, R., Carelli, V., Iotti, S., Zaniol, P., Lugaresi, E. and Barbiroli, B. (1997). "Clinical and brain bioenergetics improvement with idebenone in a patient with Leber's hereditary optic neuropathy: a clinical and 31P-MRS study." Journal of the Neurological Sciences 148(1):25-31.

Corte-Real, H. B., Macaulay, V. A., Richards, M. B., Hariti, G., Issad, M. S., Cambon-Thomsen, A., Papiha, S., Bertranpetit, J. and Sykes, B. C. (1996). "Genetic diversity in the Iberian Peninsula determined from mitochondrial sequence analysis." Annals of Human Genetics 60(Pt 4):331-350.

Cortopassi, G. A. and Arnheim, N. (1990). "Detection of a specific mitochondrial DNA deletion in tissues of older humans." Nucleic Acids Research 18(23):6927-6933.

Cortopassi, G. A. and Hutchin, T. P. (1994). "Germline inheritance of a rare mtDNA variant leads to greatly increased risk for Alzheimer's disease." American Journal of Human Genetics 55:A149 (abstract 857).

Cortopassi, G. A. and Wong, A. (1999). "Mitochondria in organismal aging and degeneration." Biochimica et Biophysica Acta 1410(2):183-193.

Cortopassi, G. A., Shibata, D., Soong, N. W. and Arnheim, N. (1992). "A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues." Proceedings of the National Academy of Sciences of the United States of America 89(16):7370-7374.

Cortopassi, G. and Arnheim, N. (1992). "Accumulation of mitochondrial DNA mutation in normal aging brain and muscle." In Mitochondrial DNA in Human Pathology: 125-136; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Cortopassi, G. and Wang, E. (1995). "Modelling the effects of age-related mtDNA mutation accumulation; complex I deficiency, superoxide and cell death." Biochimica et Biophysica Acta 1271(1):171-176.

Coskun, P. E., Ruiz-Pesini, E. E. and Wallace, D. C. (2003). "Control region mtDNA variants: longevity, climatic adaptation and a forensic conundrum." Proceedings of the National Academy of Sciences of the United States of America 100(5):2174-2176.

Coude, F. X., Ogier, H., Charpentier, C., Thomassin, G., Checoury, A., Amedee-Manesme, O., Saudubray, J. M. and Frezal, J. (1981). "Neonatal glutaric aciduria type II: an X-linked recessive inherited disorder." Human Genetics 59(3):263-265.

Coulter-Mackie, M. B., Applegarth, D. A., Toone, J. R. and Gagnier, L. (1998). "A protocol for detection of mitochondrial DNA deletions: characterization of a novel deletion." Clinical Biochemistry 31(8):627-632.

Cozens, A. L., Runswick, M. J. and Walker, J. E. (1989). "DNA sequences of two expressed nuclear genes for human mitochondrial ADP/ATP translocase." Journal of Molecular Biology 206(2):261-280.

Crameri, A., Whitehorn, E. A., Tate, E. and Stemmer, W. P. C. (1996). "Improved green fluorescent protein by molecular evolution using DNA shuffling." Nature Biotechnology 14(3):315-319.

Crews, S., Ojala, D., Posakonoy, J., Nishiguchi, J. and Attardi, G. (1979). "Nucleotide sequence of a region of human mitochondrial DNA containing the precisely identified origin of replication." Nature 277(5693):192-198.

Crimi, M., Galbiati, S., Moroni, I., Bordoni, A., Perini, M. P., Lamantea, E., Sciacco, M., Zeviani, M., Biunno, I., Moggio, M., Scarlato, G. and Comi, G. P. (2003). "A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome." Neurology 60(11):1857-1861.

Crimi, M., Galbiati, S., Perini, M. P., Bordoni, A., Malferrari, G., Sciacco, M., Biunno, I., Strazzer, S., Moggio, M., Bresolin, N. and Comi, G. P. (2003). "A mitochondrial tRNA(His) gene mutation causing pigmentary retinopathy and neurosensorial deafness." Neurology 60(7):1200-1203.

Crimi, M., Sciacco, M., Galbiati, S., Bordoni, A., Malferrari, G., Del Bo, R., Biunno, I., Bresolin, N. and Comi, G. P. (2002). "A collection of 33 novel human mtDNA homoplasmic variants." Human Mutation 20(5):409.

Crivellone, M. D., Wu, M. and Tzagoloff, A. (1988). "Assembly of the mitochondrial membrane system. Analysis of structural mutants of the yeast coenzyme QH2-cytochrome c reductase complex." Journal of Biological Chemistry 263:14323-14333.

Croteau, D. L. and Bohr, V. A. (1997). "Repair of oxidative damage to nuclear and mitochondrial DNA in mammalian cells." Journal of Biological Chemistry 272(41):25409-25412.

Croteau, D. L., ap Rhys, C. M., Hudson, E. K., Dianov, G. L., Hansford, R. G. and Bohr, V. A. (1997). "An oxidative damage-specific endonuclease from rat liver mitochondria." Journal of Biological Chemistry 272(43):27338-27344.

Cuba Neuropathy Field Investigation Team, The (1995). "Epidemic optic neuropathy in Cuba--clinical characterization and risk factors." New England Journal of Medicine 333(18):1176-1182.

Cullom, M. E., Heher, K. L., Miller, N. R., Savino, P. J. and Johns, D. R. (1993). "Leber's hereditary optic neuropathy masquerading as tobacco-alcohol amblyopia." Archives of Ophthalmology 111(11):1482-1485.

Cummins, J. M., Jequier, A. M., Martin, R., Mehmet, D. and Goldblatt, J. (1998). "Semen levels of mitochondrial DNA deletions in men attending an infertility clinic do not correlate with phenotype." International Journal of Andrology 21(1):47-52.

Cunningham, C. C. and Spach, P. I. (1994). "Alcoholism and myocardial energy metabolism." Alcoholism: Clinical and Experimental Research 18(1):132-137.

Cunningham, C. C., Kouri, D. L., Beeker, K. R. and Spach, P. I. (1989). "Comparison of effects of long-term ethanol consumption on the heart and liver of the rat." Alcoholism: Clinical and Experimental Research 13(1):58-65.

Cuticchia, A. J., Ed. (1995). Human Gene Mapping 1994, a Compendium. Baltimore, The Johns Hopkins University Press.

D

top of page

Dahl, H. H. (1995). "Pyruvate dehydrogenase E1 alpha deficiency: males and females differ yet again [editorial; comment]." American Journal of Human Genetics 56(3):553-557.

Dahl, H. H. (1998). "Getting to the nucleus of mitochondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome [editorial; comment]." American Journal of Human Genetics 63(6):1594-1597.

Dahl, H. H., Brown, R. M., Hutchison, W. M., Maragos, C. and Brown, G. K. (1990)."A testis-specific form of the human pyruvate dehydrogenase E1 alpha subunit is coded for by an intronless gene on chromosome 4." Genomics 8(2):225-232.

Dairaghi, D. J., Shadel, G. S. and Clayton, D. A. (1995)."Addition of a 29 residue carboxyl-terminal tail converts a simple HMG box-containing protein into a transcriptional activator." Journal of Molecular Biology 249(1):11-28.

Damian, M. S., Seibel, P., Schachenmayr, W., Reichmann, H. and Dorndorf, W. (1996)."VACTERL with the mitochondrial np 3243 point mutation [see comments]." American Journal of Medical Genetics 62(4):398-403.

Damore, M.E., Speiser, P.W., Slonim, A.E., New, M.I., Shanske, S., Xia, W., Santorelli, F.M. and DiMauro, S. (1999). "Early onset of diabetes mellitus associated with the mitochondrial DNA T14709C point mutation: patient report and literature review." Journal of Pediatric Endrocrinology and Metabolism 12(2):207-213.

Danks, R. A., Dorevitch, M., Cummins, J. T. and Byrne, E. (1988). "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS): adolescent onset with severe cerebral edema." Australian and New Zealand Journal of Medicine 18(1):69-72.

Dar, D. E., Weizman, A., Karp, L., Grinshpoon, A., Bidder, M., Kotler, M., Tyano, S., Bleich, A. and Gavish, M. (1991)."Platelet peripheral benzodiazepine receptors in repeated stress." Life Sciences 48(4):341-346.

Darin, N., Oldfors, A., Moslemi, A.R., Holme, E. and Tulinius, M. (2001)."The incidence of mitochondrial encephalomyopathies in childhood: clinical features and morphological, biochemical, and DNA anbormalities." Annals of Neurology 49(3):377-383.

Darley-Usmar, V. M., Hogg, N., O'Leary, V. J., Wilson, M. T. and Moncada, S. (1992)."The simultaneous generation of superoxide and nitric oxide can initiate lipid peroxidation in human low density lipoprotein." Free Radical Research Communications 17(1):9-20.

Darley-Usmar, V. M., Kennaway, N. G., Buist, N. R. and Capaldi, R. A. (1983)."Deficiency in ubiquinone cytochrome c reductase in a patient with mitochondrial myopathy and lactic acidosis." Proceedings of the National Academy of Sciences of the United States of America 80(16):5103-5106.

Darras, B. T., Zeviani, M., Schon, E. A. and Francke, U. (1987). "Sequences homologous to cytochrome c oxidase subunit IV are located on human chromosome 14q21-qter and 16q22-q24." Cytogenetics and Cell Genetics 46:603.

Darzynkiewicz, Z., Staiano-Coico, L. and Melamed, M. R. (1981)."Increased mitochondrial uptake of rhodamine 123 during lymphocyte stimulation." Proceedings of the National Academy of Sciences of the United States of America 78(4):2383-2387.

Das, A. M. and Harris, D. A. (1993)."Regulation of the mitochondrial ATP synthase is defective in rat heart during alcohol-induced cardiomyopathy." Biochimica et Biophysica Acta 1181(3):295-299.

Das, D. K., George, A., Liu, X. K. and Rao, P. S. (1989)."Detection of hydroxyl radical in the mitochondria of ischemic-reperfused myocardium by trapping with salicylate." Biochemical and Biophysical Research Communications 165(3):1004-1009.

Davidson, M., King, M. P., Koga, Y., Zhang, L. and Schon, E. A. (1995). "Physical communication between mammalian mitochondria: a genetic approach. Abstract PS111." EUROMIT III, Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:23.

Davis, G. C., Williams, A. C., Markey, S. P., Ebert, M. H., Caine, E. D., Reichert, C. M. and Kopin, I. J. (1979)."Chronic Parkinsonism secondary to intravenous injection of meperidine analogues." Psychiatry Research 1(3):249-254.

Davis, J. N., 2nd and Parker, W. D., Jr. (1998)."Evidence that two reports of mtDNA cytochrome c oxidase "mutations" in Alzheimer's disease are based on nDNA pseudogenes of recent evolutionary origin." Biochemical & Biophysical Research Communications 244(3):877-883.

Davis, K. A. and Hatefi, Y. (1971). "Spectral and reconstitution properties of cytochromes b in complexes II and 3." Biochemical and Biophysical Research Communications 44(6):1338-1344.

Davis, K. A. and Hatefi, Y. (1971). "Succinate dehydrogenase. I. Purification, molecular properties, and substructure." Biochemistry 10(13):2509-2516.

Davis, R. E., Miller, S., Herrnstadt, C., Ghosh, S. S., Fahy, E., Shinobu, L. A., Galasko, D., Thal, L. J., Beal, M. F., Howell, N. and Parker, W. D., Jr. (1997). "Mutations in mitochondrial cytochrome c oxidase genes segregate with late-onset Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 94(9):4526-4531.

Day, B. J., Shawen, S., Liochev, S. I. and Crapo, J. D. (1995). "A metalloporphyrin superoxide dismutase mimetic protects against paraquat-induced endothelial cell injury, in vitro." Journal of Pharmacology and Experimental Therapeutics 275(3):1227-1232.

De Benedictis, G. and Franceschi, C. (1998). "The genetics of successful aging." Aging 10(2):147-148.

de Coo, I. F., Renier, W. O., Ruitenbeek, W., Ter Laak, H. J., Bakker, M., Schagger, H., Van Oost, B. A. and Smeets, H. J. (1999). "A 4-base pair deletion in the mitochondrial cytochrome b gene associated with parkinsonism/MELAS overlap syndrome." Annals of Neurology 45(1):130-133.

de Coo, I. F., Sistermans, E. A., de Wijs, I. J., Catsman-Berrevoets, C., Busch, H. F., Scholte, H. R., de Klerk, J. B., van Oost, B. A. and Smeets, H. J. (1998). "A mitochondrial tRNA(Val) gene mutation (G1642A) in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes." Neurology 50(1):293-295.

de Coo, I. F., Smeets, H. J., Gabreels, F. J., Arts, N. and van Oost, B. A. (1996). "Isolated case of mental retardation and ataxia due to a de novo mitochondrial T8993G mutation." American Journal of Human Genetics 58(3):636-638.

de Coo, R., Buddiger, P., Smeets, H., van Kessel, A. G., Morgan-Hughs, J., Weghuis, D. O., Overhauser, J. and van Oost, B. (1995). "Molecular cloning and characterization of the active human mitochondrial NADH:ubiquinone oxidoreductase 24-kDa gene (NDUFV2) and its pseudogene." Genomics 26(3):461-466.

de Coo, R. F., Buddiger, P., Smeets, H. J. and van Oost, B. A. (1997). "Molecular cloning and characterization of the human mitochondrial NADH:oxidoreductase 10-kDa gene (NDUFV3)." Genomics 45(2):434-437.

de Grey, A. D. (1997). "A proposed refinement of the mitochondrial free radical theory of aging." Bioessays 19(2):161-166.

de Knijff, P., Kayser, M., Caglia, A., Corach, D., Fretwell, N., et al. (1997). "Chromosome Y microsatellites: population genetic and evolutionary aspects." International Journal of Legal Medicine 110(3):134-149.

De Meirleir, L., Seneca, S., Lissens, W., Schoentjes, E. and Desprechins, B. (1995). "Bilateral striatal necrosis with a novel point mutation in the mitochondrial ATPase 6 gene." Pediatric Neurology 13(3):242-246.

de Pinto, B., Malladi, S. B. and Altamura, N. (1999). "MitBASE pilot: a database on nuclear genes involved in mitochondrial biogenesis and its regulation in Saccharomyces cerevisiae." Nucleic Acids Research 27(1):147-149.

de Quay, B., Malinverni, R. and Lauterburg, B. H. (1992). "Glutathione depletion in HIV-infected patients: role of cysteine deficiency and effect of oral N-acetylcysteine." AIDS 6(8):815-819.

de Sury, R., Martinez, P., Procaccio, V., Lunardi, J. and Issartel, J.-P. (1998). "Genomic structure of the human NDUFS8 gene coding for the iron-sulfur TYKY subunit of the mitochondrial NADH:ubiquinone oxidoreductase." Gene 215(1):1-10.

De Vivo, D. C. (1992). "Mitochondrial DNA defects: clinical features." In Mitochondrial DNA in Human Pathology: 39-52; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

De Vries, D., De Wijs, I., Ruitenbeek, W., Begeer, J., Smit, P., Bentlage, H. and van Oost, B. (1994). "Extreme variability of clinical symptoms among sibs in a MELAS family correlated with heteroplasmy for the mitochondrial A3243G mutation." Journal of the Neurological Sciences 124(1):77-82.

De Vries, D. D., Buzing, C. J. M., Ruitenbeek, W., van de Wouw, M. P. M. E., Sperl, W., Sengers, R. C. A., Trijbels, J. M. F. and van Oost, B. A. (1992). "Myopathology and a mitochondrial DNA deletion in the Pearson marrow and pancreas syndrome." Neuromuscular Disorders 2(3):185-195.

De Vries, D. D., De Wijs, I. J., Wolff, G., Ketelsen, U. P., Ropers, H. H. and Van Oost, B. A. (1993). "X-linked myoclonus epilepsy explained as a maternally inherited mitochondrial disorder." Human Genetics 91(1):51-54.

De Vries, D. D., Van Engelen, B. G., Gabreels, F. J., Ruitenbeek, W. and Van Oost, B. A. (1993). "A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome." Annals of Neurology 34(3):410-412.

De Vries, D. D., Went, L. N., Bruyn, G. W., Scholte, H. R., Hofstra, R. M., Bolhuis, P. A. and van Oost, B. A. (1996). "Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia." American Journal of Human Genetics 58(4):703-711.

DeBenedictis, G., Rose, G., Caccio, S., Picardi, P. and Quagliariello, C. (1989). "Mitochondrial DNA polymorphism in Calabria (southern Italy)." Gene Geography 3(1):33-40.

DeBenedictis, G., Rose, G., Passarino, G. and Quagliariello, C. (1989). "Restriction fragment length polymorphism of human mitochondrial DNA in a sample population from Apulia (southern Italy)." Annals of Human Genetics 53:311-318.

Degli Esposti, M. (1998). "Inhibitors of NADH-ubiquinone reductase: an overview." Biochimica et Biophysica Acta 1364(2):222-235.

Degli Esposti, M., Carelli, V., Ghelli, A., Ratta, M., Crimi, M., Sangiorgi, S., Montagna, P., Lenaz, G., Lugaresi, E. and Cortelli, P. (1994). "Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy." FEBS Letters 352(3):375-379.

Degli Esposti, M., DeVries, S., Crimi, M., Ghelli, A., Patarnello, T. and Meyer, A. (1993). "Mitochondrial cytohrome b: evolution and structure of the protein." Biochimica et Biophysica Acta 1143:243-271.

Degli Esposti, M. and Ghelli, A. (1994). "The mechanism of proton and electron transport in mitochondrial complex I." Biochimica et Biophysica Acta 1187(2):116-120.

Degli Esposti, M., Ngo, A., Ghelli, A., Benelli, B., Carelli, V., McLennan, H. and Linnane, A. W. (1996). "The interaction of Q analogs, particularly hydroxydecyl benzoquinone (idebenone), with the respiratory complexes of heart mitochondria." Archives of Biochemistry and Biophysics 330(2):395-400.

Degoul, F., Diry, M., Pou-Serradell, A., Lloreta, J. and Marsac, C. (1994). "Myo-leukoencephalopathy in twins: study of 3243-myopathy, encephalopathy, lactic acidosis, and strokelike episodes mitochondrial DNA mutation." Annals of Neurology 35(3):365-370.

Degoul, F., Francois, D., Diry, M., Ponsot, G., Desguerre, I., Heron, B., Marsac, C. and Moutard, M. L. (1997). "A near homoplasmic T8993G mtDNA mutation in a patient with atypic Leigh syndrome not present in the mother's tissues." Journal of Inherited Metabolic Disease 20(1):49-53.

Degoul, F., Nelson, I., Amselem, S., Romero, N., Obermaier-Kusser, B., Ponsot, G., Marsac, C. and Lestienne, P. (1991). "Different mechanisms inferred from sequences of human mitochondrial DNA deletions in ocular myopathies." Nucleic Acids Research 19(3):493-496.

Degoul, F., Nelson, I., Lestienne, P., Francois, D., Romero, N., Duboc, D., Eymard, B., Fardeau, M., Ponsot, G., Paturneau-Jouas, M., Chaussain, M., Leroux, J. P. and Marsac, C. (1991). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome and ocular myopathies: genetic, biochemical and morphological studies." Journal of the Neurological Sciences 101(2):168-177.

Dekker, P. J., Ryan, M. T., Brix, J., Muller, H., Honlinger, A. and Pfanner, N. (1998). "Preprotein translocase of the outer mitochondrial membrane: molecular dissection and assembly of the general import pore complex." Molecular and Cellular Biology 18(11):6515-6524.

top of page

del Arco, A. and Satrustegui, J. (1998). "Molecular cloning of Aralar, a new member of the mitochondrial carrier superfamily that binds calcium and is present in human muscle and brain." Journal of Biological Chemistry 273(36):23327-23334.

Del Bo, R., Bordoni, A., Boneschi, F. M., Crimi, M., Sciacco, M., Bresolin, N., Scarlato, G. and Comi, G. P. (2002). "Evidence and age-related distribution of mtDNA D-loop point mutations in skeletal muscle from healthy subjects and mitochondrial patients." Journal of the Neurological Sciences 202(1-2):85-91.

Del Bo, R., Comi, G. P., Perini, M. P., Strazzer, S., Bresolin, N. and Scarlato, G. (2001). "Down's syndrome fibroblasts anticipate the accumulation of specific ageing-related mtDNA mutations." Annals of Neurology 49(1):137-138.

Del Bo, R., Sciacco, M., Crimi, M., Napoli, L., Bresolin, N., Scarlato, G. and Comi, G. P. (2001). "Somatic ageing-related mutations in the human mtDNA control region from normal muscles: a single-fiber study." Mitochondrion 1(Suppl 1):S44.

DeMaster, E. G., Kaplan, E. and Chesler, E. (1981). "The differential response of tissue catalase activity to chronic alcohol administration in the rat." Alcoholism: Clinical and Experimental Research 5(1):45-48.

Denaro, M., Blanc, H., Johnson, M. J., Chen, K. H., Wilmsen, E., Cavalli Sforza, L. L. and Wallace, D. C. (1981). "Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 78(9):5768-5772.

Derenko, M. V., Grzybowski, T., Malyarchuk, B. A., Czarny, J., Miscicka-Sliwka, D. and Zakharov, I. A. (2001). "The presence of mitochondrial haplogroup x in Altaians from South Siberia." American Journal of Human Genetics 69(1):237-241.

Derenko, M. V., Grzybowski, T., Malyarchuk, B. A., Dambueva, I. K., Denisova, G. A., Czarny, J., Dorzhu, C. M., Kakpakov, V. T., Miscicka-Sliwka, D., Wozniak, M. and Zakharov, I. A. (2003). "Diversity of mitochondrial DNA lineages in south Siberia." Annals of Human Genetics 67(5):391-411.

DeRisi, J., Penland, L., Brown, P. O., Bittner, M. L., Meltzer, P. S., Ray, M., Chen, Y., Su, Y. A. and Trent, J. M. (1996). "Use of a cDNA microarray to analyse gene expression patterns in human cancer." Nature Genetics 14(4):457-460.

DeRisi, J. L., Iyer, V. R. and Brown, P. O. (1997). "Exploring the metabolic and genetic control of gene expression on a genomic scale." Science 278(5338):680-686.

DeRose, J. J., Jr., Banas, J. S., Jr. and Winters, S. L. (1994). "Current perspectives on sudden cardiac death in hypertrophic cardiomyopathy." Progress in Cardiovascular Diseases 36(6):475-484.

Deschauer, M., Muller, T., Wieser, T., Schulte-Mattler, W., Kornhuber, M. and Zierz, S. (2001). "Hearing impairment is common in various phenotypes of the mitochondrial DNA A3243G mutation." Archives of Neurology 58(11):1885-1888.

Deschauer, M., Wieser, T., Neudecker, S., Lindner, A. and Zierz, S. (1999). "Mitochondrial 3243 A-->G mutation (MELAS mutation) associated with painful muscle stiffness." Neuromuscular Disorders 9(5):305-307.

Desjardins, P., de Muys, J. M. and Morais, R. (1986). "An established avian fibroblast cell line without mitochondrial DNA." Somatic Cell Genetics 12(2):133-139.

Desjardins, P., Frost, E. and Morais, R. (1985). "Ethidium bromide-induced loss of mitochondrial DNA from primary chicken embryo fibroblasts." Molecular and Cellular Biology 5(5):1163-1169.

Desjardins, P. and Morais, R. (1990). "Sequence and gene organization of the chicken mitochondrial genome. A novel gene order in higher vertebrates." Journal of Molecular Biology 212(4):599-634.

Dey, R., Barrientos, A. and Moraes, C. T. (2000). "Functional constraints of nuclear-mitochondrial DNA interactions in xenomitochondrial rodent cell lines." Journal of Biological Chemistry 275(40):31520-31527.

Dey, R., Tengan, C. H., Morita, M. P., Kiyomoto, B. H. and Moraes, C. T. (2000). "A novel myopathy-associated mitochondrial DNA mutation altering the conserved size of the tRNA(Gln) anticodon loop." Neuromuscular Disorders 10(7):488-492.

Di Rienzo, A. and Wilson, A. C. (1991). "Branching pattern in the evolutionary tree for human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 88(5):1597-1601.

DiDonato, S., Zeviani, M., Giovannini, P., Savarese, N., Rimoldi, M., Mariotti, C., Girotti, F. and Caraceni, T. (1993). "Respiratory chain and mitochondrial DNA in muscle and brain in Parkinson's disease patients." Neurology 43(11):2262-2268.

Dietz, H. C. (1997). "Nonsense mutations and altered splice-site selection." American Journal of Human Genetics 60(3):729-730.

Dietz, H. C. and Kendzior, R. J., Jr. (1994). "Maintenance of an open reading frame as an additional level of scrutiny during splice site selection." Nature Genetics 8(2):183-188.

DiMauro, S. (1993). "Mitochondrial encephalomyopathies." In The Molecular and Genetic Basis of Neurological Disease: 665-694; Stoneham, MA, Butterworth-Heinemann. Rosenberg, Prusiner, S. B., DiMauro, S., Barchi, R. L. and Kunkel, L. M., Eds.

DiMauro, S. (1993). "Mitochondrial involvement in Parkinson's disease: the controversy continues [editorial comment]." Neurology 43(11):2170-2172.

DiMauro, S. (1998). "Mitochondrial diseases: clinical considerations." Biofactors 7(3):277-285.

DiMauro, S. (1999). "Mitochondrial encephalomyopathies: back to Mendelian genetics [editorial; comment]." Annals of Neurology 45(6):693-694.

DiMauro, S., Andreu, A. L., Musumeci, O. and Bonilla, E. (2001). "Diseases of oxidative phosphorylation due to mtDNA mutations." Seminars in Neurology 21(3):251-260.

DiMauro, S., Bonilla, E., Davidson, M., Hirano, M. and Schon, E. A. (1998). "Mitochondria in neuromuscular disorders." Biochimica et Biophysica Acta 1366(1-2):199-210.

DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M. and DeVivo, D. C. (1985). "Mitochondrial myopathies." Annals of Neurology 17(6):521-538.

DiMauro, S. and De Vivo, D. C. (1996). "Genetic heterogeneity in Leigh syndrome [editorial]." Annals of Neurology 40(1):5-7.

DiMauro, S. and Hirano, M. (1998). "Mitochondria and heart disease." Current Opinion in Cardiology 13(3):190-197.

DiMauro, S., Kulikova, R., Tanji, K., Bonilla, E. and Hirano, M. (1999). "Mitochondrial genes for generalized epilepsies." Advances in Neurolology 79:411-419.

DiMauro, S. and Moraes, C. T. (1993). "Mitochondrial encephalomyopathies." Archives of Neurology 50(11):1197-1208.

DiMauro, S. and Schon, E. A. (2001). "Mitochondrial DNA mutations in human disease." American Journal of Medical Genetics 106(1):18-26.

DiMauro, S. and Schon, E. A. (2003). "Mitochondrial respiratory-chain diseases." New England Journal of Medicine 348(26):2656-2668.

DiMauro, S., Servidei, S., Zeviani, M., DiRocco, M., DeVivo, D. C., DiDonato, S., Uziel, G., Berry, K., Hoganson, G., Johnsen, S. D. and Johnson, P. C. (1987). "Cytochrome c oxidase deficiency in Leigh syndrome." Annals of Neurology 22(4):498-506.

DiMauro, S. and Tanji, K. (1997). "Mitochondrial disorders." Japanese Journal of Human Genetics 42(4):473-487.

Dionisi-Vici, C., Seneca, S., Zeviani, M., Fariello, G., Rimoldi, M., Bertini, E. and De Meirleir, L. (1998). "Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene." Journal of Inherited Metabolic Disease 21(1):2-8.

Dionne, F. T., Turcotte, L., Thibault, M. C., Boulay, M. R., Skinner, J. S. and Bouchard, C. (1991). "Mitochondrial DNA sequence polymorphism, VO2 max, and response to endurance training." Medicine and Science in Sports and Exercise 23(2):177-185.

Dipierri, J. E., Alfaro, E., Martinez-Marignac, V. L., Bailliet, G., Bravi, C. M., Cejas, S. and Bianchi, N. O. (1998). "Paternal directional mating in two Amerindian subpopulations located at different altitudes in northwestern Argentina." Human Biology 70(6):1001-1010.

Ditta, G., Soderberg, K., Landy, F. and Scheffler, I. E. (1976). "The selection of Chinese hamster cells deficient in oxidative energy metabolism." Somatic Cell Genetics 2(4):331-344.

Dizdaroglu, M. (1994). "Chemical determination of oxidative DNA damage by gas chromatography-mass spectrometry." Methods in Enzymology 234:3-16.

Doble, A., Ferris, O., Burgevin, M. C., Menager, J., Uzan, A., Dubroeucq, M. C., Renault, C., Gueremy, C. and Le Fur, G. (1987). "Photoaffinity labeling of peripheral-type benzodiazepine-binding sites." Molecular Pharmacology 31(1):42-49.

Doda, J. N., Wright, C. T. and Clayton, D. A. (1981). "Elongation of displacement-loop strands in human mouse mitochondrial DNA is arrested near specific template sequences." Proceedings of the National Academy of Sciences of the United States of America 78(10):6116-6120.

Dolce, V., Fiermonte, G., Messina, A. and Palmieri, F. (1991). "Nucleotide sequence of a human heart cDNA encoding the mitochondrial phosphate carrier." DNA Sequence 2(2):133-135.

Dolce, V., Iacobazzi, V., Palmieri, F. and Walker, J. E. (1994). "The sequences of human and bovine genes of the phosphate carrier from mitochondria contain evidence of alternatively spliced forms." Journal of Biological Chemistry 269(14):10451-10460.

Dorner, G. and Mohnike, A. (1976). "Further evidence for a predominantly maternal transmission of maturity-onset type diabetes." Endokrinologie 68(1):121-124.

Dorner, G., Mohnike, A. and Steindel, E. (1975). "On possible genetic and epigenetic modes of diabetes transmission." Endokrinologie 66(2):225-227.

Dorner, G., Plagemann, A. and Reinagel, H. (1987). "Familial diabetes aggregation in type I diabetics: gestational diabetes an apparent risk factor for increased diabetes susceptibility in the offspring." Exp Clin Endocrinol 89(1):84-90.

Dougherty, F. E., Ernst, S. G. and Aprille, J. R. (1994). "Familial recurrence of atypical symptoms in an extended pedigree with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS)." Journal of Pediatrics 125(5 Pt 1):758-761.

Drexler, H., Hayoz, D., Munzel, T., Hornig, B., Just, H., Brunner, H. R. and Zelis, R. (1992). "Endothelial function in chronic congestive heart failure." American Journal of Cardiology 69(19):1596-1601.

Drugan, R. C. (1996). "Peripheral benzodiazepine receptors: molecular pharmacology to possible physiological significance in stress-induced hypertension." Clinical Neuropharmacology 19(6):475-496.

Drugan, R. C., Basile, A. S., Crawley, J. N., Paul, S. M. and Skolnick, P. (1987). ""Peripheral" benzodiazepine binding sites in the Maudsley reactive rat: selective decrease confined to peripheral tissues." Brain Research Bulletin 18(1):143-145.

Druzhyna, N., Nair, R. G., LeDoux, S. P. and Wilson, G. L. (1998). "Defective repair of oxidative damage in mitochondrial DNA in Down's syndrome." Mutation Research 409(2):81-89.

Dubowitz, V., Sewry, C. A. and Fitzsimons, R. B. (1985). Biopsia muscolare: A Practical Approach. London, Baillière Tindall.

Ducluzeau, P. H., Lachaux, A., Bouvier, R., Streichenberger, N., Stepien, G. and Mousson, B. (1999). "Depletion of mitochondrial DNA associated with infantile cholestasis and progressive liver fibrosis." Journal of Hepatology 30(1):149-155.

Dumoulin, R., Sagnol, I., Ferlin, T., Bozon, D., Stepien, G. and Mousson, B. (1996). "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance." Molecular and Cellular Probes 10(5):389-391.

Dunbar, D. R., Moonie, P. A., Jacobs, H. T. and Holt, I. J. (1995). "Different cellular backgrounds confer a marked advantage to either mutant or wild-type mitochondrial genomes." Proceedings of the National Academy of Sciences of the United States of America 92(14):6562-6566.

Dunbar, D. R., Moonie, P. A., Swingler, R. J., Davidson, D., Roberts, R. and Holt, I. J. (1993). "Maternally transmitted partial direct tandem duplication of mitochondrial DNA associated with diabetes mellitus." Human Molecular Genetics 2(10):1619-1624.

Dunbar, D. R., Shibasaki, Y., Dobbie, L., Andersson, B. and Brookes, A. J. (1997). "In situ hybridisation mapping of genomic clones for five human respiratory chain complex I genes." Cytogenetics and Cell Genetics 78(1):21-24.

Duncan, A. M., Anderson, L., Duff, C., Ozawa, T., Suzuki, H., Worton, R. and Rozen, R. (1994). "Assignment of the gene (UQCRFS1) for the Rieske iron-sulfur protein subunit of the mitochondrial cytochrome bc1 complex to the 22q13 and 19q12-q13.1 regions of the human genome." Genomics 21(1):281-283.

Duncan, A. M., Chow, W. and Robinson, B. H. (1992). "Localization of the human 75-kDal Fe-S protein of NADH-coenzyme Q reductase gene (NDUFS1) to 2q33----q34." Cytogenetics and Cell Genetics 60(3-4):212-213.

Duncan, A. M., Ozawa, T., Suzuki, H. and Rozen, R. (1993). "Assignment of the gene for the core protein II (UQCRC2) subunit of the mitochondrial cytochrome bc1 complex to human chromosome 16p12." Genomics 18(2):455-456.

Duncan, A. M., Ozawa, T., Suzuki, H. and Rozen, R. (1994). "Assignment of the gene for the cytochrome c1 subunit of the mitochondrial cytochrome bc1 complex (CYC1) to human chromosome 8q24.3." Genomics 19(2):400-401.

Dunkley, P. R., Heath, J. W., Harrison, S. M., Jarvie, P. E., Glenfield, P. J. and Rostas, J. A. (1988). "A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: homogeneity and morphology of subcellular fractions." Brain Research 441(1-2):59-71.

Duvoisin, R. C. (1998). "Role of genetics in the cause of Parkinson's disease." Movement Disorders 13(Suppl 1):7-12.

Dworkin, B. M. (1994). "Selenium deficiency in HIV infection and the acquired immunodeficiency syndrome (AIDS)." Chemico-Biological Interactions 91(2-3):181-186.

Dyer, M. R. and Walker, J. E. (1993). "Sequences of members of the human gene family for the c subunit of mitochondrial ATP synthase." Biochem J 293(Pt 1):51-64.

E

top of page

Earley, F. G. and Ragan, C. (1984). "Photoaffinity labelling of mitochondrial NADH dehydrogenase with arylazidoamorphigenin, an analogue of rotenone." Biochem J 224:525-534.

Earley, G. P., Patel, S. D., Ragan, C. I. and Attardi, G. (1991). "Photolabelling of a mitochondrially encoded subunit of NADH dehydrogenase with [3H]dihydrorotenone." FEBS Letters 219(1):108-112.

Earnshaw, W. C. (1999). "Apoptosis. A cellular poison cupboard [news]." Nature 397(6718):387, 389.

Easton, R. D., Merriwether, D. A., Crews, D. E. and Ferrell, R. E. (1996). "mtDNA variation in the Yanomami: evidence for additional New World founding lineages." American Journal of Human Genetics 59(1):213-225.

Eck, H. P., Gmunder, H., Hartmann, M., Petzoldt, D., Daniel, V. and Droge, W. (1989). "Low concentrations of acid-soluble thiol (cysteine) in the blood plasma of HIV-1-infected patients." Biological Chemistry Hoppe Seyler 370(2):101-108.

Edes, I., Toszegi, A., Csanady, M. and Bozoky, B. (1986). "Myocardial lipid peroxidation in rats after chronic alcohol ingestion and the effects of different antioxidants." Cardiovascular Research 20(7):542-548.

Ege, T., Krondahl, U. and Ringertz, N. R. (1974). "Introduction of nuclei and micronuclei into cells and enucleated cytoplasms by Sendai virus induced fusion." Experimental Cell Research 88(2):428-432.

Egensperger, R., Kosel, S., Schnopp, N. M., Mehraein, P. and Graeber, M. B. (1997). "Association of the mitochondrial tRNA(A4336G) mutation with Alzheimer's and Parkinson's diseases." Neuropathology & Applied Neurobiology 23(4):315-321.

Eguchi, Y., Ewert, D. L. and Tsujimoto, Y. (1992). "Isolation and characterization of the chicken bcl-2 gene: expression in a variety of tissues including lymphoid and neuronal organs in adult and embryo." Nucleic Acids Research 20(16):4187-4192.

Eimon, P. M., Chung, S. S., Lee, C. M., Weindruch, R. and Aiken, J. M. (1996). "Age-associated mitochondrial DNA deletions in mouse skeletal muscle: comparison of different regions of the mitochondrial genome." Developmental Genetics 18(2):107-113.

El Meziane, A., Lehtinen, S. K., Hance, N., Nijtmans, L. G., Dunbar, D., Holt, I. J. and Jacobs, H. T. (1998). "A tRNA suppressor mutation in human mitochondria." Nature Genetics 18(4):350-353.

El Meziane, A., Lehtinen, S. K., Holt, I. J. and Jacobs, H. T. (1998). "Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation." Human Molecular Genetics 7(13):2141-2147.

Eleff, S., Kennaway, N. G., Buist, N. R., Darley-Usmar, V. M., Capaldi, R. A., Bank, W. J. and Chance, B. (1984). "31P NMR study of improvement in oxidative phosphorylation by vitamins K3 and C in a patient with a defect in electron transport at complex III in skeletal muscle." Proceedings of the National Academy of Sciences of the United States of America 81(11):3529-3533.

Ellison, J. W., Li, X., Francke, U. and Shapiro, L. J. (1996). "Rapid evolution of human pseudoautosomal genes and their mouse homologs." Mammalian Genome 7(1):25-30.

Ellison, J. W., Salido, E. C. and Shapiro, L. J. (1996). "Genetic mapping of the adenine nucleotide translocase-2 gene (Ant2) to the mouse proximal X chromosome." Genomics 36(2):369-371.

Elpeleg, O. N., Shaag, A., Glustein, J. Z., Anikster, Y., Joseph, A. and Saada, A. (1997). "Lipoamide dehydrogenase deficiency in Ashkenazi Jews: an insertion mutation in the mitochondrial leader sequence." Human Mutation 10(3):256-257.

el-Schahawi, M., Lopez de Munain, A., Sarrazin, A. M., Shanske, A. L., Basirico, M., Shanske, S. and DiMauro, S. (1997). "Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy." Neurology 48(2):453-456.

Elston, T., Wang, H. and Oster, G. (1998). "Energy transduction in ATP synthase." Nature 391(6666):510-513.

Emahazion, T., Beskow, A., Gyllensten, U. and Brookes, A. J. (1998). "Intron based radiation hybrid mapping of 15 complex I genes of the human electron transport chain." Cytogenetics and Cell Genetics 82(1-2):115-119.

Emahazion, T. and Brookes, A. J. (1998). "Mapping of the NDUFA2, NDUFA6, NDUFA7, NDUFB8, and NDUFS8 electron transport chain genes by intron based radiation hybrid mapping." Cytogenetics and Cell Genetics 82(1-2):114.

Endo, H., Matsuda, C. and Kagawa, Y. (1994). "Exclusion of an alternatively spliced exon in human ATP synthase gamma-subunit pre-mRNA requires de novo protein synthesis." Journal of Biological Chemistry 269(17):12488-12493.

Enriquez, J. A., Chomyn, A. and Attardi, G. (1995). "MtDNA mutation in MERRF syndrome causes defective aminoacylation of tRNALys and premature translation termination." Nature Genetics 10(1):47-55.

Ensink, R. J., Verhoeven, K., Marres, H. A., Huygen, P. L., Padberg, G. W., ter Laak, H., van Camp, G., Willems, P. J. and Cremers, C. W. (1998). "Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472." Archives of Otolaryngology -- Head & Neck Surgery 124(8):886-891.

Enter, C., Muller-Hocker, J., Zierz, S., Kurlemann, G., Pongratz, D., Forster, C., Obermaier-Kusser, B. and Gerbitz, K. D. (1991). "A specific point mutation in the mitochondrial genome of Caucasians with MELAS." Human Genetics 88(2):233-266.

Epstein, C. J., Avraham, K. B., Lovett, M., Smith, S., Elroy-Stein, O., Rotman, G., Bry, C. and Groner, Y. (1987). "Transgenic mice with increased Cu/Zn-superoxide dismutase activity: animal model of dosage effects in Down syndrome." Proceedings of the National Academy of Sciences of the United States of America 84(22):8044-8048.

Epstein, W., Wieczorek, L., Siebers, A. and Altendorf, K. (1984). "Potassium transport in Escherichia coli: genetic and biochemical characterization of the K+-transporting ATPase." Biochemical Society Transactions 12(2):235-236.

Erickson, C. E. and Castora, F. J. (1993). "PCR amplification using a single cell allows the detection of the mtDNA lesion associated with Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1181(1):77-82.

Erickson, R. P. (1972). "Leber's optic atrofia, a possible example of maternal inheritance." American Journal of Human Genetics 24(3):348-349.

Ernst, B. P., Wilichowski, E., Wagner, M. and Hanefeld, F. (1994). "Deletion screening of mitochondrial DNA via multiprimer DNA amplification." Molecular and Cellular Probes 8(1):45-49.

Ernster, L. (1998). "Biochemical methods for diagnosis of mitochondrial cytopathies: introduction and perspectives." Biofactors 7(3):213-215.

Escubedo, E., Camins, A., Talaveron, C. and Camarasa, J. (1992). "Characterization of [3H]Ro 5-4864 binding sites in rat vas deferens." Journal of Neurochemistry 58(1):39-45.

Esposito, L. A., Kokoszka, J. E., Waymire, K. G., Cottrell, B., MacGregor, G. R. and Wallace, D. C. (2000). "Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene." Free Radical Biology & Medicine 28(5):754-766.

Esposito, L. A., Melov, S., Panov, A., Cottrell, B. A. and Wallace, D. C. (1999). "Mitochondrial disease in mouse results in increased oxidative stress." Proceedings of the National Academy of Sciences of the United States of America 96(9):4820-4825.

Esteal, S. (1991). "The relative rate of DNA evolution in primates." Molecular Biology and Evolution 8:115-127.

Estivill, X., Govea, N., Barcelo, E., Badenas, C., Romero, E., Moral, L., Scozzri, R., D'Urbano, L., Zeviani, M. and Torroni, A. (1998). "Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides [see comments]." American Journal of Human Genetics 62(1):27-35.

Esworthy, R. S., Doan, K., Doroshow, J. H. and Chu, F. F. (1994). "Cloning and sequencing of the cDNA encoding a human testis phospholipid hydroperoxide glutathione peroxidase." Gene 144(2):317-318.

Etcheberrigaray, R., Ito, E., Kim, C. S. and Alkon, D. L. (1994). "Soluble beta-amyloid induction of Alzheimer's phenotype for human fibroblast K+ channels." Science 264(5156):276-279.

Eto, K., Tsubamoto, Y., Terauchi, Y., Sugiyama, T., Kishimoto, T., Takahashi, N., Yamauchi, N., Kubota, N., Murayama, S., Aizawa, T., Akanuma, Y., Aizawa, S., Kasai, H., Yazaki, Y. and Kadowaki, T. (1999). "Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion." Science 283(5404):981-985.

Evans, M. J. and Scarpulla, R. C. (1988). "The human somatic cytochrome c gene: two classes of processed pseudogenes demarcate a period of rapid molecular evolution." Proceedings of the National Academy of Sciences of the United States of America 85(24):9625-9629.

Eyre-Walker, A. and Awadalla, P. (2001). "Does human mtDNA recombine?" Journal of Molecular Evolution 53(4-5):430-435.

Eyre-Walker, A., Smith, N.H. and Smith, J.M. (1999). "How clonal are human mitochondria?" Proceedings of the Royal Society of London. Series B: Biological Sciences 266(1418):477-483.

F

top of page

Fabrizi, G. M., Rizzuto, R., Nakase, H., Mita, S., Kadenbach, B. and Schon, E. A. (1989). "Sequence of a cDNA specifying subunit VIa of human cytochrome c oxidase." Nucleic Acids Research 17(15):6409.

Fabrizi, G. M., Rizzuto, R., Nakase, H., Mita, S., Lomax, M. I., Grossman, L. I. and Schon, E. A. (1989). "Sequence of a cDNA specifying subunit VIIa of human cytochrome c oxidase." Nucleic Acids Research 17(17):7107.

Fabrizi, G. M., Sadlock, J., Hirano, M., Mita, S., Koga, Y., Rizzuto, R., Zeviani, M. and Schon, E. A. (1992). "Differential expression of genes specifying two isoforms of subunit VIa of human cytochrome c oxidase." Gene 119(2):307-312.

Fadic, R., Russell, J. A., Vedanarayanan, V. V., Lehar, M., Kuncl, R. W. and Johns, D. R. (1997). "Sensory ataxic neuropathy as the presenting feature of a novel mitochondrial disease." Neurology 49(1):239-245.

Fahn, H. J., Wang, L. S., Kao, S. H., Chang, S. C., Huang, M. H. and Wei, Y. H. (1998). "Smoking-associated mitochondrial DNA mutations and lipid peroxidation in human lung tissues." American Journal of Respiratory Cell & Molecular Biology 19(6):901-909.

Fahy, E., Nazarbaghi, R., Zomorrodi, M., Herrnstadt, C., Parker, W. D., Davis, R. E. and Ghosh, S. S. (1997). "Multiplex fluorescence-based primer extension method for quantitative mutation analysis of mitochondrial DNA and its diagnostic application for Alzheimer's disease." Nucleic Acids Research 25(15):3102-3109.

Fang, W., Huang, C. C., Lee, C. C., Cheng, S. Y., Pang, C. Y. and Wei, Y. H. (1993). "Ophthalmologic manifestations in MELAS syndrome." Archives of Neurology 50(9):977-980.

Fariss, M. W. and Reed, D. J. (1987). "High-performance liquid chromatography of thiols and disulfides: dinitrophenol derivatives." Methods in Enzymology 143:101-109.

Farrar, R. P., Ardies, C. M., Shorey, R. L. and Erickson, C. K. (1982). "The interaction of ethanol and swimming upon cardiac mass and mitochondrial function." Pharmacology Biochemistry and Behavior 16(2):207-210.

Farrell, L. B. and Nagley, P. (1987). "Human liver cDNA clones encoding proteolipid subunit 9 of the mitochondrial ATPase complex." Biochemical and Biophysical Research Communications 144(3):1257-1264.

Fassati, A., Bordoni, A., Amboni, P., Fortunato, F., Fagiolari, G., Bresolin, N., Prelle, A., Comi, G. and Scarlato, G. (1994). "Chronic progressive external ophthalmoplegia: a correlative study of quantitative molecular data and histochemical and biochemical profile." Journal of the Neurological Sciences 123(1-2):140-146.

Fayet, G., Jansson, M., Sternberg, D., Moslemi, A. R., Blondy, P., Lombes, A., Fardeau, M. and Oldfors, A. (2002). "Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function." Neuromuscular Disorders 12(5):484-493.

Faulkner, K. M., Liochev, S. I. and Fridovich, I. (1994). "Stable Mn(III) porphyrins mimic superoxide dismutase in vitro and substitute for it in vivo." Journal of Biological Chemistry 269(38):23471-23476.

Favier, A., Sappey, C., Leclerc, P., Faure, P. and Micoud, M. (1994). "Antioxidant status and lipid peroxidation in patients infected with HIV." Chemico-Biological Interactions 91(2-3):165-180.

Favit, A., Nicoletti, F., Scapagnini, U. and Canonico, P. L. (1992). "Ubiquinone protects cultured neurons against spontaneousand excitotoxin-induced degeneration." Journal of Cerebral Blood Flow and Metabolism 12(4):638-645.

Fearnley, I. M., Skehel, J. M. and Walker, J. E. (1994). "Electrospray ionization mass spectrometric analysis of subunits of NADH:ubiquinone oxidoreductase (complex I) from bovine heart mitochondria." Biochem Soc Trans 22(2):551-555.

Fearnley, I.M. and Walker, J.E. (1992). "Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins." Biochimica et Biophysica Acta 1140(2):105-134.

Federico, A., Dotti, M. T., Cardaioli, E., Grieco, G., Malandrini, A., Manneschi, L., Plewnia, K., Rufa, A., Renieri, A., Bruttini, M. and Perticoni, G. F. (1998). "Association in the same patient of autosomal dominant progressive external ophthalmoplegia with multiple mtDNA deletions and X-linked ichthyosis: clinical, biochemical, histological, submicroscopic and molecular genetic study." Journal of Submicroscopic Cytology & Pathology 30(4):521-526.

Feelisch, M., te Poel, M., Zamora, R., Deussen, A. and Moncada, S. (1994). "Understanding the controversy over the identity of EDRF." Nature 368(6466):62-65.

Feil, R., Brocard, J., Mascrez, B., LeMeur, M., Metzger, D. and Chambon, P. (1996). "Ligand-activated site-specific recombination in mice." Proceedings of the National Academy of Sciences of the United States of America 93(20):10887-10890.

Felkai, S., Ewbank, J. J., Lemieux, J. J., Labbe, C., Brown, G. G. and Hekimi, S. (1999). "CLK-1 controls respiration, behavior and aging in the nematode Caenorhabditis elegans." EMBO Journal 18(7):1783-1792.

Ferlin, T., Guironnet, G., Barnoux, M. C., Dumoulin, R., Stepien, G. and Mousson, B. (1997). "Detection of mitochondrial DNA deletions by a screening procedure using the polymerase chain reaction." Molecular & Cellular Biochemistry 174(1-2):221-225.

Ferlin, T., Landrieu, P., Rambaud, C., Fernandez, H., Dumoulin, R., Rustin, P. and Mousson, B. (1997). "Segregation of the G8993 mutant mitochondrial DNA through generations and embryonic tissues in a family at risk of Leigh syndrome." Journal of Pediatrics 131(3):447-449.

Fernandez, A., Kiefer, J., Fosdick, L. and McConkey, D. J. (1995). "Oxygen radical production and thiol depletion are required for Ca(2+)- mediated endogenous endonuclease activation in apoptotic thymocytes." Journal of Immunology 155(11):5133-5139.

Ferrari, F. K., Xiao, X., McCarty, D. and Samulski, R. J. (1997). "New developments in the generation of Ad-free, high-titer rAAV gene therapy vectors." Nature Medicine 3(11):1295-1297.

Ferre, F. (1992). "Quantitative or semi-quantitative PCR: reality versus myth." PCR Methods and Applications 2(1):1-9.

Ferrell, R. E., Merriwether, A. D. and Hamman, R. R. (1994). "Serological and mitochondrial DNA measures of Amerindian admixture in the Hispanic Americans of the San Luis Valley, Colorado." 93rd Annual Meeting of the American Anthropological Association, Atlanta, Ga.Abstract.

Ferris, S. D., Sage, R. D. and Wilson, A. C. (1982). "Evidence from mtDNA sequences that common laboratory strains of inbred mice are descended from a single female." Nature 295(5845):163-165.

Fetter, J. R., Qian, J., Shapleigh, J., Thomas, J. W., Garcia-Horsman, A., Schmidt, E., Hosler, J., Babcock, G. T., Gennis, R. B. and Ferguson-Miller, S. (1995). "Possible proton relay pathways in cytochrome c oxidase." Proceedings of the National Academy of Sciences of the United States of America 92(5):1604-1608.

Figarella-Branger, D., Pellissier, J. F., Scheiner, C., Wernert, F. and Desnuelle, C. (1992). "Defects of the mitochondrial respiratory chain complexes in three pediatric cases with hypotonia and cardiac involvement." Journal of the Neurological Sciences 108(1):105-113.

Figulla, H. R., Bardosi, A., Dechant, K. and Kreuzer, H. (1991). "Enzyme histochemistry of endomyocardial biopsies in idiopathic dilated cardiomyopathy." Cardiology 78(3):282-290.

Fillingame, R. H., Girvin, M. E., Jiang, W., Valiyaveetil, F. and Hermolin, J. (1998). "Subunit interactions coupling H+ transport and ATP synthesis in F1F0 ATP synthase." Acta Physiologica Scandinavica. Supplementum 643:163-168.

Fine, P. E. M. (1978). "Mitochondrial inheritance and disease." The Lancet 2(Sept. 23):659-662.

Fine, S. L., Berger, J. W., Maguire, M. G. and Ho, A. C. (2000). "Age-related macular degeneration." New England Journal of Medicine 342(7):483-492.

Finnila, S., Hassinen, I. E., Ala-Kokko, L. and Majamaa, K. (2000). "Phylogenetic network of the mtDNA haplogroup U in Northern Finland based on sequence analysis of the complete coding region by conformation-sensitive gel electrophoresis." American Journal of Human Genetics 66(3):1017-1026.

Finnila, S., Lehtonen, M. S. and Majamaa, K. (2001). "Phylogenetic Network for European mtDNA." American Journal of Human Genetics 68(6):1475-1484.

Finnila, S. and Majamaa, K. (2001). "Phylogenetic analysis of mtDNA haplogroup TJ in a Finnish population." Journal of Human Genetics 46(2):64-69.

Finsterer, J. (2003). "Mitochondriopathy mimicking amyotrophic lateral sclerosis." Neurologist 9(1):45-48.

Fischel-Ghodsian, N. (1998). "Mitochondrial genetics and hearing loss: the missing link between genotype and phenotype." Proceedings of the Society for Experimental Biology & Medicine 218(1):1-6.

Fischel-Ghodsian, N. (1998). "Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics [editorial; comment]." American Journal of Human Genetics 62(1):15-19.

Fischel-Ghodsian, N. (1998). "Mitochondrial RNA processing and translation: link between mitochondrial mutations and hearing loss?" Molecular Genetics & Metabolism 65(2):97-104.

Fischel-Ghodsian, N. (1999). "Mitochondrial deafness mutations reviewed." Human Mutation 13(4):261-270.

Fischel-Ghodsian, N., Bohlman, M. C., Prezant, T. R., Graham, J. M., Jr., Cederbaum, S. D. and Edwards, M. J. (1992). "Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome." Pediatric Research 31(6):557-560.

Fischel-Ghodsian, N., Bykhovskaya, Y., Taylor, K., Kahen, T., Cantor, R., Ehrenman, K., Smith, R. and Keithley, E. (1997). "Temporal bone analysis of patients with presbycusis reveals high frequency of mitochondrial mutations." Hearing Research 110(1-2):147-154.

Fischel-Ghodsian, N., Prezant, T. R., Bu, X. and Oztas, S. (1993). "Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity." American Journal of Otolaryngology 14(6):399-403.

Fischel-Ghodsian, N., Prezant, T. R., Chaltraw, W. E., Wendt, K. A., Nelson, R. A., Arnos, K. S. and Falk, R. E. (1997). "Mitochondrial gene mutation is a significant predisposing factor in aminoglycoside ototoxicity." American Journal of Otolaryngology 18(3):173-178.

Fischer, S. G. and Lerman, L. S. (1983). "DNA fragments differing by single base-pair substitutions are separated in denaturing gradient gels: correspondence with melting theory." Proceedings of the National Academy of Sciences of the United States of America 80(6):1579-1583.

Fisher, K. J., Jooss, K., Alston, J., Yang, Y., Haecker, S. E., High, K., Pathak, R., Raper, S. E. and Wilson, J. M. (1997). "Recombinant adeno-associated virus for muscle directed gene therapy." Nature Medicine 3(3):306-312.

Fisher, R. P., Parisi, M. A. and Clayton, D. A. (1989). "Flexible recognition of rapidly evolving promoter sequences by mitochondrial transcription factor 1." Genes Dev 3:2202-2217.

Fisher, R. P., Topper, J. N. and Clayton, D. A. (1987). "Promoter selection in human mitochondria involves binding of a transcription factor to orientation-independent upstream regulatory elements." Cell 50(2):247-258.

Fitzpatrick, E. A., Rhoads, C. A., Espandiari, P., Kaplan, A. M. and Cohen, D. A. (1995). "Ethanol as a possible cofactor in the development of murine AIDS." Alcoholism: Clinical and Experimental Research 19(4):915-922.

top of page

Flanigan, K. M. and Johns, D. R. (1993). "Association of the 11778 mitochondrial DNA mutation and demyelinating disease." Neurology 43(12):2720-2722.

Fleury, C., Neverova, M., Collins, S., Raimbault, S., Champigny, O., Levi-Meyrueis, C., Bouillaud, F., Seldin, M. F., Surwit, R. S., Ricquier, D. and Warden, C. H. (1997). "Uncoupling protein-2: a novel gene linked to obesity and hyperinsulinemia [see comments]." Nature Genetics 15(3):269-272.

Flierl, A., Jackson, C., Cottrell, B., Murdock, D., Seibel, P. and Wallace, D. C. (2003). "Targeted delivery of DNA to the mitochondrial compartment via import sequence-conjugated peptide nucleic acid." Molecular Therapy 7(4):550-557.

Flierl, A., Reichmann, H. and Seibel, P. (1997). "Pathophysiology of the MELAS 3243 transition mutation." Journal of Biological Chemistry 272(43):27189-27196.

Fliss, M. S., Usadel, H., Caballero, O. L., Wu, L., Buta, M. R., Eleff, S. M., Jen, J. and Sidransky, D. (2000). "Facile detection of mitochondrial DNA mutations in tumors and bodily fluids." Science 287(5460):2017-2019.

Flomenbaum, M., Soeiro, R., Udem, S. A., Kress, Y. and Factor, S. M. (1989). "Proliferative membranopathy and human immunodeficiency virus in AIDS hearts." Journal of Acquired Immune Deficiency Syndromes 2(2):129-135.

Flores, S. C., Marecki, J. C., Harper, K. P., Bose, S. K., Nelson, S. K. and McCord, J. M. (1993). "Tat protein of human immunodeficiency virus type 1 represses expression of manganese superoxide dismutase in HeLa cells." Proceedings of the National Academy of Sciences of the United States of America 90(16):7632-7636.

Floto, R. A., Mahaut-Smith, M. P., Somasundaram, B. and Allen, J. M. (1995). "IgG-induced Ca2+ oscillations in differentiated U937 cells; a study using laser scanning confocal microscopy and co-loaded fluo-3 and fura-red fluorescent probes." Cell Calcium 18(5):377-389.

Fodor, S. P., Read, J. L., Pirrung, M. C., Stryer, L., Lu, A. T. and Solas, D. (1991). "Light-directed, spatially addressable parallel chemical synthesis." Science 251(4995):767-773.

Folgero, T., Bertheussen, K., Lindal, S., Torbergsen, T. and Oian, P. (1993). "Mitochondrial disease and reduced sperm motility." Human Reproduction 8(11):1863-1868.

Folgero, T., Torbergsen, T. and Oian, P. (1995). "The 3243 MELAS mutation in a pedigree with MERRF." European Neurology 35(3):168-171.

Fontaine, E., Eriksson, O., Ichas, F. and Bernardi, P. (1998). "Regulation of the permeability transition pore in skeletal muscle mitochondria. Modulation by electron flow through the respiratory chain complex I." Journal of Biological Chemistry 273(20):12662-12668.

Forster, P., Harding, R., Torroni, A. and Bandelt, H. J. (1996). "Origin and evolution of Native American mtDNA variation: a reappraisal." American Journal of Human Genetics 59(4):935-945.

Foury, F. and Cazzalini, O. (1997). "Deletion of the yeast homologue of the human gene associated with Friedreich's ataxia elicits iron accumulation in mitochondria." FEBS Letters 411(2-3):373-377.

Fox, C. L. (1997). "mtDNA analysis in ancient Nubians supports the existence of gene flow between sub-Sahara and North Africa in the Nile Valley." Annals of Human Biology 24(3):217-227.

Francalacci, P., Bertranpetit, J., Calafell, F. and Underhill, P. A. (1996). "Sequence diversity of the control region of mitochondrial DNA in Tuscany and its implications for the peopling of Europe." American Journal of Physical Anthropology 100(4):443-460.

Franceschetti, S., Antozzi, C., Binelli, S., Carrara, F., Nardocci, N., Zeviani, M. and Avanzini, G. (1993). "Progressive myoclonus epilepsies: an electroclinical, biochemical, morphological and molecular genetic study of 17 cases." Acta Neurologica Scandinavica 87(3):219-223.

Franceschina, L., Salani, S., Bordoni, A., Sciacco, M., Napoli, L., Comi, G. P., Prelle, A., Fortunato, F., Hadjigeorgiou, G. M., Farina, E., Bresolin, N., D'Angelo, M. G. and Scarlato, G. (1998). "A novel mitochondrial tRNA(Ile) point mutation in chronic progressive external ophthalmoplegia [letter]." Journal of Neurology 245(11):755-758.

Frangione, B., Rosenwasser, E., Penefsky, H. S. and Pullman, M. E. (1981). "Amino acid sequence of the protein inhibitor of mitochondrial adenosine triphosphatase." Proceedings of the National Academy of Sciences of the United States of America 78(12):7403-7407.

Frank, D. M., Arora, P. K., Blumer, J. L. and Sayre, L. M. (1987). "Model study on the bioreduction of paraquat, MPP+, and analogs. Evidence against a "redox cycling" mechanism in MPTP neurotoxicity." Biochemical and Biophysical Research Communications 147(3):1095-1104.

Freeman, G. L., Colston, J. T., Zabalgoitia, M. and Chandrasekar, B. (1998). "Contractile depression and expression of proinflammatory cytokines and iNOS in viral myocarditis." American Journal of Physiology 274(1 Pt 2):H249-H258.

Freinkel, N., Metzger, B. E., Phelps, R. L., Simpson, J. L., Martin, A. O., Radvany, R., Ober, C., Dooley, S. L., Depp, R. O. and Belton, A. (1986). "Gestational diabetes mellitus: a syndrome with phenotypic and genotypic heterogeneity." Horm Metab Res 18(7):427-430.

Froguel, P., Vaxillaire, M., Sun, F., Velho, G., Zouali, H., Butel, M. O., Lesage, S., Vionnet, N., Clement, K., Fougerousse, F., Tanizawa, Y., Weissenbach, J., Beckmann, J. S., Lathrop, G. M., Passa, P., Permutt, M. A. and Cohen, D. (1992). "Close linkage of glucokinase locus on chromosome 7p to early-onset non- insulin-dependent diabetes mellitus [published erratum appears in Nature 1992 Jun 18;357(6379):607]." Nature 356(6365):162-164.

Fromenty, B., Carrozzo, R., Shanske, S. and Schon, E. A. (1997). "High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart." American Journal of Medical Genetics 71(4):443-452.

Fromenty, B., Grimbert, S., Mansouri, A., Beaugrand, M., Erlinger, S., Rotig, A. and Pessayre, D. (1995). "Hepatic mitochondrial DNA deletion in alcoholics: association with microvesicular steatosis." Gastroenterology 108(1):193-200.

Froster, U. G., Wallner, S. J., Reusche, E., Schwinger, E. and Rehder, H. (1996). "VACTERL with hydrocephalus and branchial arch defects: prenatal, clinical, and autopsy findings in two brothers." American Journal of Medical Genetics 62(2):169-172.

Fryer, A., Appleton, R., Sweeney, M. G., Rosenbloom, L. and Harding, A. E. (1994). "Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'." Archives of Disease in Childhood 71(5):419-422.

Fu, G. K. and Markovitz, D. M. (1998). "The human LON protease binds to mitochondrial promoters in a single- stranded, site-specific, strand-specific manner." Biochemistry 37(7):1905-1909.

Fu, K., Hartlen, R., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1996). "A novel heteroplasmic tRNAleu(CUN) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy." Human Molecular Genetics 5(11):1835-1840.

Fujii, T., Hattori, H., Higuchi, Y., Tsuji, M. and Mitsuyoshi, I. (1998). "Phenotypic differences between T-->C and T-->G mutations at nt 8993 of mitochondrial DNA in Leigh syndrome." Pediatric Neurology 18(3):275-277.

Fukuhara, N. (1995). "Clinicopathological features of MERRF." Muscle and Nerve 3(4):S90-S94.

Fukui, M., Nakano, K., Obayashi, H., Kitagawa, Y., Nakamura, N., Mori, H., Kajiyama, S., Wada, S., Fujii, M., Yoshimori, K., Kanaitsuka, T., Shigeta, H. and Kondo, M. (1997). "High prevalence of mitochondrial diabetes mellitus in Japanese patients with major risk factors." Metabolism: Clinical & Experimental 46(7):793-795.

Fukunaga, Y., Azuma, N., Koshiyama, H., Inoue, D., Sato, H., Yoshimasa, Y. and Nakao, K. (1997). "Mitochondrial DNA 3243 mutation is infrequent in Japanese diabetic patients with auditory disturbance [letter; comment]." Diabetes Care 20(11):1800-1803.

Fukushima, S., Honda, K., Awane, M., Yamamoto, E., Takeda, R., Kaneko, I., Tanaka, A., Morimoto, T., Tanaka, K. and Yamaoka, Y. (1995). "The frequency of 4977 base pair deletion of mitochondrial DNA in various types of liver disease and in normal liver." Hepatology 21(6):1547-1551.

Fukuyama, R., Wadhwani, K., C., Galdzicki, Z., Rapoport, S. I. and Ehrenstein, G. (1994). "Beta-amyloid polipeptide increases calcium-uptake in PC12 cells: a possible mechanism for its cellular toxicity in Alzheimer's disease." Brain Research 667(2):269-272.

Funakawa, I., Kato, H., Terao, A., Ichihashi, K., Kawashima, S., Hayashi, T., Mitani, K. and Miyazaki, S. (1995). "Cerebellar ataxia in patients with Leber's hereditary optic neuropathy." Journal of Neurology 242(2):75-77.

Funalot, B., Reynier, P., Vighetto, A., Ranoux, D., Bonnefont, J. P., Godinot, C., Malthiery, Y. and Mas, J. L. (2002). "Leigh-like encephalopathy complicating Leber's hereditary optic neuropathy." Annals of Neurology 52(3):374-377.

Furth, P. A., St Onge, L., Boger, H., Gruss, P., Gossen, M., Kistner, A., Bujard, H. and Hennighausen, L. (1994). "Temporal control of gene expression in transgenic mice by a tetracycline-responsive promoter." Proceedings of the National Academy of Sciences of the United States of America 91(20):9302-9306.

Furuya, H., Sugimura, T., Yamada, T., Hayashi, K. and Kobayashi, T. (1997). "[A case of incomplete Kearns-Sayre syndrome with a stroke like episode]." Rinsho Shinkeigaku - Clinical Neurology 37(8):680-684.

Fu-Xiang, D., Jameson, M., Skopec, J., Diederich, A. and Diederich, D. (1992). "Endothelial dysfunction of resistance arteries of spontaneously hypertensive rats." Journal of Cardiovascular Pharmacology 20 Suppl 12:S190-S192.

G

top of page

Gadaleta, M. N., Rainaldi, G., Lezza, A. M. S., Milella, F., Fracasso, F. and Cantatore, P. (1992). "Mitochondrial DNA copy number and mitochondrial DNA deletion in adult and senescent rats." Mutation Research 275(3-6):181-193.

Galante, Y. M. and Hatefi, Y. (1979). "Purification and molecular and enzymic properties of mitochondrial NADH dehydrogenase." Archives of Biochemistry and Biophysics 192(2):559-568.

Galiegue, S., Jbilo, O., Combes, T., Bribes, E., Carayon, P., Le Fur, G. and Casellas, P. (1999). "Cloning and characterization of PRAX-1. A new protein that specifically interacts with the peripheral benzodiazepine receptor." Journal of Biological Chemistry 274(5):2938-2952.

Gamez, J., Playan, A., Andreu, A. L., Bruno, C., Navarro, C., Cervera, C., Arbos, M. A., Schwartz, S., Enriquez, J. A. and Montoya, J. (1998). "Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA." Neurology 51(1):258-260.

Gardner, J. C., Goliath, R., Viljoen, D., Sellars, S., Cortopassi, G., Hutchin, T., Greenberg, J. and Beighton, P. (1997). "Familial streptomycin ototoxicity in a South African family: a mitochondrial disorder." Journal of Medical Genetics 34(11):904-906.

Gardner, P. R., Nguyen, D. D. and White, C. W. (1996). "Superoxide scavenging by Mn(II/III) tetrakis (1-methyl-4-pyridyl) porphyrin in mammalian cells." Archives of Biochemistry & Biophysics 325(1):20-28.

Garritsen, H. S., Szuflad, P., Sibrowski, W. and Dzik, W. H. (1997). "A sequence-specific polymerase chain reaction assay for mitochondrial DNA polymorphisms in human platelets and white cells." Transfusion 37(10):1012-1019.

Gattermann, N., Berneburg, M., Heinisch, J., Aul, C. and Schneider, W. (1995). "Detection of the ageing-associated 5-Kb common deletion of mitochondrial DNA in blood and bone marrow of hematologically normal adults. Absence of the deletion in clonal bone marrow disorders." Leukemia 9(10):1704-1710.

Gattermann, N., Retzlaff, S., Wang, Y. L., Berneburg, M., Heinisch, J., Wlaschek, M., Aul, C. and Schneider, W. (1996). "A heteroplasmic point mutation of mitochondrial tRNALeu(CUN) in non-lymphoid haemopoietic cell lineages from a patient with acquired idiopathic sideroblastic anaemia." British Journal of Haematology 93(4):845-855.

Gattermann, N., Retzlaff, S., Wang, Y. L., Hofhaus, G., Heinisch, J., Aul, C. and Schneider, W. (1997). "Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of cytochrome c oxidase in two patients with acquired idiopathic sideroblastic anemia." Blood 90(12):4961-4972.

Gavish, M., Bar-Ami, S. and Weizman, R. (1992). "The endocrine system and mitochondrial benzodiazepine receptors." Molecular and Cellular Endocrinology 88(1-3):1-13.

Gavish, M., Katz, Y., Bar-Ami, S. and Weizman, R. (1992). "Biochemical, physiological, and pathological aspects of the peripheral benzodiazepine receptor." Journal of Neurochemistry 58(5):1589-1601.

Gay, N. J. and Walker, J. E. (1985). "Two genes encoding the bovine mitochondrial ATP synthase proteolipid specify precursors with different import sequences and are expressed in a tissue-specific manner." EMBO J 4(13A):3519-3524.

Gelinas, Y., Turcotte, L., Bouchard, C., Thibault, M. C. and Dionne, F. T. (1989). "Mitochondrial DNA polymorphism detected with the restriction enzymes BstNI and BclI in a French Canadian population." Annals of Human Genetics 53(Pt 4):319-325.

Geller, R. B., Saral, R., Piantadosi, S., Zahurak, M., Vogelsang, G. B., Wingard, J. R., Ambinder, R. F., Beschorner, W. B., Braine, H. G., Burns, W. H. and et al. (1989). "Allogeneic bone marrow transplantation after high-dose busulfan and cyclophosphamide in patients with acute nonlymphocytic leukemia." Blood 73(8):2209-2218.

Gellerich, F. N., Trumbeckaite, S., Chen, Y., Deschauer, M., M?ler, T. and Zierz, S. (2002). "Energetic depression caused by mitochondrial dysfunction." European Cytokine Network 13(4):395-397.

Gennis, R. and Ferguson-Miller, S. (1995). "Structure of cytochrome c oxidase, energy generator of aerobic life." Science 269(5227):1063-1064.

Geny, C., Cormier, V., Meyrignac, C., Cesaro, P., Degos, J., Gherardi, R. and Rotig, A. (1991). "Muscle mitochondrial DNA in encephalomyopathy and ragged red fibers: a Southern blot analysis and literature review." Journal of Neurology 238(3):171-176.

Gerber, A. S., Loggins, R., Kumar, S. and Dowling, T. E. (2001). "Does nonneutral evolution shape observed patterns of DNA variation in animal mitochondrial genomes?" Annual Review of Genetics 35:539-566.

Gerbitz, K. D. (1993). "Does the mitochondrial DNA play a role in the pathogenesis of diabetes?" Diabetologia 35(12):1181-1186.

Gerbitz, K. D., Gempel, K. and Brdiczka, D. (1996). "Mitochondria and diabetes. Genetic, biochemical, and clinical implications of the cellular energy circuit." Diabetes 45(2):113-126.

Gerbitz, K. D. and Jaksch, M. (1994). "Mitochondrial DNA, aging and sudden infant death syndrome." European Journal of Clinical Chemistry and Clinical Biochemistry 32(6):487-488.

Gerbitz, K. D., Obermaier-Kusser, B., Zierz, S., Pongratz, D., Muller-Hocker, J. and Lestienne, P. (1990). "Mitochondrial myopathies: divergences of genetic deletions, biochemical defects and the clinical syndromes." Journal of Neurology 237(1):5-10.

Gerbitz, K. D., Paprotta, A., Jaksch, M., Zierz, S. and Drechsel, J. (1993). "Diabetes mellitus is one of the heterogeneous phenotypic features of a mitochondrial DNA point mutation within the tRNALeu(UUR) gene." FEBS Letters 321(2-3):194-196.

Gerbitz, K. D., van den Ouweland, J. M., Maassen, J. A. and Jaksch, M. (1995). "Mitochondrial diabetes mellitus: a review." Biochimica et Biophysica Acta 1271(1):253-260.

German, M. S. (1993). "Glucose sensing in pancreatic islet beta cells: the key role of glucokinase and the glycolytic intermediates." Proceedings of the National Academy of Sciences of the United States of America 90(5):1781-1785.

Gervais, F. G., Xu, D., Robertson, G. S., Vaillancourt, J. P., Zhu, Y., Huang, J., LeBlanc, A., Smith, D., Rigby, M., Shearman, M. S., Clarke, E. E., Zheng, H., Van Der Ploeg, L. H. T., Ruffolo, S. C., Thornberry, N. A., Xanthoudakis, S., Zamboni, R. J., Roy, S. and Nicholson, D. W. (1999). "Involvement of caspases in proteolytic cleavage of Alzheimer's amyloid-ß precursor protein and amyloidogenic Aß peptide formation." Cell 97(3):395-406.

Gesi, M., Riva, A., Soldani, P., Fornai, F., Natale, G., Lenzi, P., Pellegrini, A. and Paparelli, A. (1999). "Central and peripheral benzodiazepine ligands prevent mitochondrial damage induced by noise exposure in the rat myocardium: an ultrastructural study." The Anatomical Record 255(3):334-341.

Geurts van Kessel, A. H., Westerveld, A., de Groot, P. G., Meera Khan, P. and Hagemeijer, A. (1980). "Regional localization of the genes coding for human ACO2, ARSA, and NAGA on chromosome 22." Cytogenetics and Cell Genetics 28(3):169-172.

Ghattas, I. R., Sanes, J. R. and Majors, J. E. (1991). "The encephalomyocarditis virus internal ribosome entry site allows efficient coexpression of two genes from a recombinant provirus in cultured cells and in embryos." Molecular and Cellular Biology 11(12):5848-5859.

Ghelli, A., Degli Esposti, M., Carelli, V. and Lenaz, G. (1997). "Changes in mitochondrial complex I activity and coenzyme Q binding site in Leber's hereditary optic neuropathy (LHON)." Molecular Aspects of Medicine 18 Suppl:S263-267.

Ghelli, A., Zanna, C., Porcelli, A. M., Schapira, A. H., Martinuzzi, A., Carelli, V. and Rugolo, M. (2003). "Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium." Journal of Biological Chemistry 278(6):4145-4150.

Ghivizzani, S. C., Madsen, C. S. and Hauswirth, W. W. (1993). "In organello footprinting. Analysis of protein binding at regulatory regions in bovine mitochondrial DNA." Journal of Biological Chemistry 268(12):8675-8682.

Ghivizzani, S. C., Madsen, C. S., Nelen, M. R., Ammini, C. V. and Hauswirth, W. W. (1994). "In organello footprint analysis of human mitochondrial DNA: human mitochondrial transcription factor A interactions at the origin of replication." Molecular and Cellular Biology 14(12):7717-7730.

Ghosh, S. S., Fahy, E., Bodis-Wollner, I., Sherman, J. and Howell, N. (1996). "Longitudinal study of a heteroplasmic 3460 Leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing." American Journal of Human Genetics 58(2):325-334.

Gibbons, A. (1998). "Calibrating the mitochondrial clock [news]." Science 279(5347):28-29.

Gidh-Jain, M., Takeda, J., Xu, L. Z., Lange, A. J., Vionnet, N., et al. (1993). "Glucokinase mutations associated with non-insulin-dependent (type 2) diabetes mellitus have decreased enzymatic activity: implications for structure/function relationships." Proceedings of the National Academy of Sciences of the United States of America 90(5):1932-1936.

Giles, R. E., Blanc, H., Cann, H. M. and Wallace, D. C. (1980). "Maternal inheritance of human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 77(11):6715-6719.

Gill, P., Ivanov, P. L., Kimpton, C., Piercy, R., Benson, N., Tully, G., Evett, I., Hagelberg, E. and Sullivan, K. (1994). "Identification of the remains of the Romanov family by DNA analysis [see comments]." Nature Genetics 6(2):130-135.

Gill, P., Kimpton, C., Aliston-Greiner, R., Sullivan, K., Stoneking, M., Melton, T., Nott, J., Barritt, S., Roby, R., Holland, M. and Weedn, V. (1995). "Establishing the identity of Anna Anderson Manahan." Nature Genetics 9(1):9-10.

Ginther, C., Corach, D., Penacino, G. A., Rey, J. A., Carnese, F. R., Hutz, M. H., Anderson, A., Just, J., Salzano, F. M. and King, M.-C. (1993). "Genetic variation among the Mapuche Indians from the Patagonian region of Argentina: mitochondrial DNA sequence variation and allele frequencies of several nuclear genes." EXS 67(-):211-219.

Giraud, S., Bonod-Bidaud, C., Wesolowski-Louvel, M. and Stepien, G. (1998). "Expression of human ANT2 gene in highly proliferative cells: GRBOX, a new transcriptional element, is involved in the regulation of glycolytic ATP import into mitochondria." Journal of Molecular Biology 281(3):409-418.

Giroix, M. H., Rasschaert, J., Bailbe, D., Leclercq-Meyer, V., Sener, A., Portha, B. and Malaisse, W. J. (1991). "Impairment of glycerol phosphate shuttle in islets from rats with diabetes induced by neonatal streptozocin." Diabetes 40(2):227-232.

Glick, B. and Schatz, G. (1991). "Import of proteins into mitochondria." Annual Review of Genetics 25:21-44.

Glick, B. S., Beasley, E. M. and Schatz, G. (1992). "Protein sorting in mitochondria." Trends in Biochemical Sciences 17(11):453-459.

Glick, B. S., Wachter, C. and Schatz, G. (1992). "The energetics of protein import into mitochondria." Biochimica et Biophysica Acta 1101(2):249-251.

Goate, A., Chartier-Harlin, M. C., Mullan, M., Brown, J., Crawford, F., et al. (1991). "Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease [see comments]." Nature 349(6311):704-706.

Godbout, R., Bisgrove, D. A., Honore, L. H. and Day, R. S. d. (1993). "Amplification of the gene encoding the alpha-subunit of the mitochondrial ATP synthase complex in a human retinoblastoma cell line." Gene 123(2):195-201.

Godbout, R., Pandita, A., Beatty, B., Bie, W. and Squire, J. A. (1997). "Comparative genomic hybridization analysis of Y79 and FISH mapping indicate the amplified human mitochondrial ATP synthase alpha-subunit gene (ATP5A) maps to chromosome 18q12-->q21." Cytogenetics and Cell Genetics 77(3-4):253-256.

Golbe, L. I., Di Iorio, G., Bonavita, V., Miller, D. C. and Duvoisin, R. C. (1990). "A large kindred with autosomal dominant Parkinson's disease." Annals of Neurology 27(3):276-282.

Goldhaber, J. I. and Weiss, J. N. (1992). "Oxygen free radicals and cardiac reperfusion abnormalities." Hypertension 20(1):118-127.

Goldstein, J. D., Shanske, S., Bruno, C. and Perszyk, A. A. (1999). "Maternally inherited mitochondrial cardiomyopathy associated with a C-to-T transition at nucleotide 3303 of mitochondrial DNA in the tRNA(Leu(UUR)) gene." Pediatric & Developmental Pathology 2(1):78-85.

top of page

Gong, D. W., He, Y., Karas, M. and Reitman, M. (1997). "Uncoupling protein-3 is a mediator of thermogenesis regulated by thyroid hormone, beta3-adrenergic agonists, and leptin." Journal of Biological Chemistry 272(39):24129-24132.

Gonzalez-Halphen, D., Lindorfer, M. A. and Capaldi, R. A. (1988). "Subunit arrangement in beef heart complex III." Biochemistry 27:7021-7031.

Goodman, S. I., Axtell, K. M., Bindoff, L. A., Beard, S. E., Gill, R. E. and Frerman, F. E. (1994). "Molecular cloning and expression of a cDNA encoding human electron transfer flavoprotein-ubiquinone oxidoreductase." European Journal of Biochemistry 219(1-2):277-286.

Gossen, M., Freundlieb, S., Bender, G., Muller, G., Hillen, W. and Bujard, H. (1995). "Transcriptional activation by tetracyclines in mammalian cells." Science 268(5218):1766-1769.

Gossen, M., Pak, D. T. and Botchan, M. R. (1996). "Drosophila homolog of yeast ORC: correction [letter]." Science 271(5254):1349.

Goto, Y. (1995). "Clinical features of MELAS and mitochondrial DNA mutations." Muscle and Nerve 3(12):S107-S112.

Goto, Y. (1997). "[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3259-3264.

Goto, Y. (1998). "[Electron transfer complex I deficiency]." Ryoikibetsu Shokogun Shirizu (19 Pt 2):488-490.

Goto, Y., Horai, S., Matsuoka, T., Koga, Y., Nihei, K., Kobayashi, M. and Nonaka, I. (1992). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS): a correlative study of the clinical features and mitochondrial DNA mutation." Neurology 42(3 Pt 1):545-550.

Goto, Y., Koga, Y., Horai, S. and Nonaka, I. (1990). "Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies." Journal of the Neurological Sciences 100(1-2):63-69.

Goto, Y., Nonaka, I. and Horai, S. (1990). "A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies [see comments]." Nature 348(6302):651-653.

Goto, Y., Nonaka, I. and Horai, S. (1991). "A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Biochimica et Biophysica Acta 1097(3):238-240.

Goto, Y., Tojo, M., Tohyama, J., Horai, S. and Nonaka, I. (1992). "A novel point mutation in the mitochondrial tRNALeu(UUR) gene in a family with mitochondrial myopathy." Annals of Neurology 31(6):672-675.

Goto, Y., Tsugane, K., Tanabe, Y., Nonaka, I. and Horai, S. (1994). "A new point mutation at nucelotide pair 3291 of the tRNALeu(UUR) gene in a patient with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." Biochemical and Biophysical Research Communications 202(3):1624-1630.

Gould, S. J., Subramani, S. and Scheffler, I. E. (1989). "Use of the DNA polymerase chain reaction for homology probing: isolation of partial cDNA or genomic clones encoding the iron-sulfur protein of succinate dehydrogenase from several species [published erratum appears in Proc Natl Acad Sci U S A , 1993 Mar 15, 90(6): 2556]." Proceedings of the National Academy of Sciences of the United States of America 86(6):1934-1938.

Govan, G. G., Smith, P. R., Kellar-Wood, H., Schapira, A. H. and Harding, A. E. (1994). "HLA class II genotypes in Leber's hereditary optic neuropathy." Journal of the Neurological Sciences 126(2):193-196.

Graf, W. D., Sumi, S. M., Copass, M. K., Ojemann, L. M., Longstreth, W. T., Jr., Shanske, S., Lombes, A. and DiMauro, S. (1993). "Phenotypic heterogeneity in families with the myoclonic epilepsy and ragged-red fiber disease point mutation in mitochondrial DNA." Annals of Neurology 33(6):640-645.

Graff, C., Clayton, D. A. and Larsson, N. G. (1999). "Mitochondrial medicine--recent advances." Journal of Internal Medicine 246(1):11-23.

Graham, B., Waymire, K., Cottrell, B., Trounce, I. A., MacGregor, G. R. and Wallace, D. C. (1997). "A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/skeletal muscle isoform of the adenine nucleotide translocator." Nature Genetics 16(3):226-234.

Graven, L., Passarino, G., Semino, O., Boursot, P., Santachiara-Benerecetti, S., Langaney, A. and Excoffier, L. (1995). "Evolutionary correlation between control region sequence and restriction polymorphisms in the mitochondrial genome of a large Senegalese Mandenka sample." Molecular Biology and Evolution 12(2):334-345.

Gray, J. V. and Johnson, K. J. (1997). "Waiting for frataxin [news]." Nature Genetics 16(4):323-325.

Gray, M. R. (1992). "Detection of DNA sequence polymorphisms in human genomic DNA by using denaturing gradient gel blots." American Journal of Human Genetics 50(2):331-346.

Gray, M. W., Burger, G. and Lang, B. F. (1999). "Mitochondrial evolution." Science 283(5407):1476-1481.

Grazina, M., Silva, F., Januario, C., Oliveira, M., Cunha, L. and Oliveira, C. (2003). "Parkinson's disease and mitochondrial DNA NADH dehydrogenase subunit 1 nucleotides 3337-3340: study in a population from the central region of Portugal (Coimbra)." European Neurology 50(1):60-61.

Green, D. R. and Reed, J. C. (1998). "Mitochondria and apoptosis." Science 281(5381):1309-1312.

Greenamyre, J. T., Garcia-Osuna, M. and Greene, J. G. (1994). "The endogenous cofactors, thioctic acid and dihydrolipoicacid, are neuroprotective against NMDA and malonic acid lesions of striatum." Neuroscience Letters 171(1-2):17-20.

Greenberg, B. D., Newbold, J. E. and Sugino, A. (1983). "Intraspecific nucleotide sequence variability surrounding the origin of replication in human mitochondrial DNA." Gene 21(1-2):33-49.

Greenberg, J. H., Turner, C. G., II and Zegura, S. L. (1986). "The settlement of the Americas: a comparison of the linguistic, dental, and genetic evidence." Current Anthropology 27:477-497.

Greene, J. G. and Greenamyre, J. T. (1996). "Bioenergetics and glutamate excitotoxicity." Progress in Neurobiology 48(6):613-634.

Griffiths, E. J. and Halestrap, A. P. (1993). "Protection by Cyclosporin A of ischemia/reperfusion-induced damage in isolated rat hearts." Journal of Molecular and Cellular Cardiology 25(12):1461-1469.

Grigorieff, N. (1998). "Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice." Journal of Molecular Biology 277(5):1033-1046.

Groop, L. C. (1997). "The molecular genetics of non-insulin-dependent diabetes mellitus [editorial]." Journal of Internal Medicine 241(2):95-101.

Gross, A., Jockel, J., Wei, M. C. and Korsmeyer, S. J. (1998). "Enforced dimerization of BAX results in its translocation, mitochondrial dysfunction and apoptosis." Embo Journal 17(14):3878-3885.

Gross, N. J., Getz, G. S. and Rabinowitz, M. (1969). "Apparent turnover of mitochondrial deoxyribonucleic acid and mitochondrial phospholipids in the tissues of the rat." Journal of Biological Chemistry 244(6):1552-1562.

Gu, J. Z., Lin, X. and Wells, D. E. (1996). "The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome." Genomics 35(1):6-10.

Gu, M., Cooper, J. M., Taanman, J. W. and Schapira, A. H. (1998). "Mitochondrial DNA transmission of the mitochondrial defect in Parkinson's disease." Annals of Neurology 44(2):177-186.

Gu, M., Gash, M. T., Mann, V. M., Javoy-Agid, F., Cooper, J. M. and Schapira, A. H. (1996). "Mitochondrial defect in Huntington's disease caudate nucleus." Annals of Neurology 39(3):385-389.

Guan, M. X., Enriquez, J. A., Fischel-Ghodsian, N., Puranam, R. S., Lin, C. P., Maw, M. A. and Attardi, G. (1998). "The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression." Molecular & Cellular Biology 18(10):5868-5879.

Gucuyener, K., Seyrantepe, V., Topaloglu, H. and Ozguc (1998). "Mitochondrial deletion in a boy with growth hormone deficiency mimicking cerebral palsy." Journal of Inherited Metabolic Disease 21(2):173-174.

Guenebaut, V., Schlitt, A., Weiss, H., Leonard, K. and Friedrich, T. (1998). "Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I)." Journal of Molecular Biology 276(1):105-112.

Guo, Y., Guo, Z., Chen, L., Zhang, J., Wang, W., Liu, X., Ren, H. and Gao, S. (1997). "Clinical, pathologic and genetic studies on mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes." Chinese Medical Journal 110(11):851-855.

Gurgey, A., Rotig, A., Gumruk, F., Cemeroglu, P., Sarialioglu, F. and Altay, C. (1992). "Pearson's marrow-pancreas syndrome in 2 Turkish children." Acta Haematologica 87(4):206-209.

Guy, J., Qi, X., Muzyczka, N. and Hauswirth, W. W. (1999). "Reporter expression persists 1 year after adeno-associated virus-mediated gene transfer to the optic nerve." Archives of Ophthalmology 117(7):929-937.

Guy, J., Qi, X., Pallotti, F., Schon, E.A., Manfredi, G., Carelli, V., Martinuzzi, A., Hauswirth, W.W. and Lewin, A.S. (2002). "Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy." Annals of Neurology 52(5):534-542.

Gvozdjakova, A., Kuznetsov, A. V., Kucharska, J., Miklovicova, E. and Gvozdjak, J. (1991). "The functional state of the creatine kinase system of myocardial mitochondria in alcoholic cardiomyopathy." Cor et Vasa 33(4):343-349.

Gyllensten, U., Wharton, D., Josefsson, A. and Wilson, A. C. (1991). "Paternal inheritance of mitochondrial DNA in mice." Nature 352(6332):255-257.

H

top of page

Ha, H., Hajek, P., Bedwell, D. M. and Burrows, P. D. (1993). "A mitochondrial porin cDNA predicts the existence of multiple human porins." Journal of Biological Chemistry 268(16):12143-12149.

Haas, R. C. and Strauss, A. W. (1990). "Separate nuclear genes encode sarcomere-specific and ubiquitous human mitochondrial creatine kinase isoenzymes." Journal of Biological Chemistry 265(12):6921-6927.

Habano, W., Nakamura, S. and Sugai, T. (1998). "Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: evidence for mismatch repair systems in mitochondrial genome." Oncogene 17(15):1931-1937.

Habano, W., Sugai, T., Yoshida, T. and Nakamura, S. (1999). "Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability." International Journal of Cancer 83(5):625-629.

Hadjigeorgiou, G. M., Kim, S. H., Fischbeck, K. H., Andreu, A. L., Berry, G. T., Bingham, P., Shanske, S., Bonilla, E. and DiMauro, S. (1999). "A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy." Journal of the Neurological Sciences 164(2):153-157.

Haferkamp, O., Rosenau, W., Scheuerle, A., Pietrczyk, C., Skowronek, P. and Rodel, G. (1998). "Disseminated neocortical and subcortical encephalopathy (DNSE) with widespread activation of brain macrophages: a new dementia disorder? Autopsy reports of two postmenopausal women from families with mitochondrial DNA mutations." Clinical Neuropathology 17(2):85-94.

Haferkamp, O., Scheuerle, A., Schlenk, R., Melzner, I., Pavenstadt-Grupp, I. and Rodel, G. (1994). "Mitochondrial complex I and III mutations and neutral-lipid storage in activated mononuclear macrophages and neutrophils: a case presenting with necrotizing myopathy, poikiloderma atrophicans vasculare, and xanthogranulomatous bursitis." Human Pathology 25(4):419-423.

Hagelberg, E., B., S. and R., H. (1989). "Ancient bone DNA amplified [letter]." Nature 342(6249):485.

Hagelberg, E., Bell, L. S., Allen, T., Boyde, A., Jones, S. J. and Clegg, J. B. (1991). "Analysis of ancient bone DNA: techniques and applications." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 333(1268):399-407.

Hagelberg, E. and Clegg, J. B. (1993). "Genetic polymorphisms in prehistoric Pacific islanders determined by analysis of ancient bone DNA." Proceedings of the Royal Society of London. Series B: Biological Sciences 252(1334):163-170.

Hagelberg, E., Goldman, N., Lio, P., Whelan, S., Schiefenhovel, W., Clegg, J. B. and Bowden, D. K. (1999). "Evidence for mitochondrial DNA recombination in a human population of island Melanesia." Proceedings of the Royal Society of London. Series B: Biological Sciences 266(1418):485-492.

Hakem, R., Hakem, A., Duncan, G. S., Henderson, J. T., Woo, M., Soengas, M. S., Elia, A., de la Pompa, J. L., Kagi, D., Khoo, W., Potter, J., Yoshida, R., Kaufman, S. A., Lowe, S. W., Penninger, J. M. and Mak, T. W. (1998). "Differential requirement for caspase 9 in apoptotic pathways in vivo." Cell 94(3):339-352.

Hales, K. G. and Fuller, M. T. (1997). "Developmentally regulated mitochondrial fusion mediated by a conserved, novel, predicted GTPase." Cell 90(1):121-129.

Hall, E. D. (1993). "Cerebral ischaemia, free radicals and antioxidant protection." Biochemical Society Transactions 21(2):334-339.

Hall, L., Williams, K., Perry, A. C. F., Frayne, J. and Jury, J. A. (1998). "The majority of human glutathione peroxidase type 5 (GPX5) transcripts are incorrectly spliced: implications for the role of GPX5 in the male reproductive tract." Biochemical Journal 333(Pt 1):5-9.

Halliwell, B. and Cross, C. E. (1991). "Reactive oxygen species, antioxidants, and acquired immunodeficiency syndrome. Sense or speculation?" Archives of Internal Medicine 151(1):29-31.

Hamazaki, S., Koshiba, M. and Sugiyama, T. (1993). "Organ distribution of mutant mitochondrial tRNALeu(UUR) gene in a MELAS patient." Acta Pathologica Japonica 43:187-191.

Hamblet, N. S. and Castora, F. J. (1995). "Mitochondrial DNA deletion analysis: a comparison of PCR quantitative methods." Biochemical and Biophysical Research Communications 207(2):839-847.

Hamblet, N. S. and Castora, F. J. (1997). "Elevated levels of the Kearns-Sayre syndrome mitochondrial DNA deletion in temporal cortex of Alzheimer's patients." Mutation Research 379(2):253-262.

Hamilton, M. G. and O'Brien, T. W. (1974). "Ultracentrifugal characterization of the mitochondrial ribosome and subribosomal particles of bovine liver: molecular size and composition." Biochemistry 13(26):5400-5403.

Hammans, S. R., Sweeney, M. G., Brockington, M., Lennox, G. G., Lawton, N. F., Kennedy, C. R., Morgan-Hughes, J. A. and Harding, A. E. (1993). "The mitochondrial DNA transfer RNALys A-G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant mitochondrial DNA." Brain 116(Pt 3):617-632.

Hammans, S. R., Sweeney, M. G., Brockington, M., Morgan-Hughes, J. A. and Harding, A. E. (1991). "Mitochondrial encephalopathies: molecular genetic diagnosis from blood samples [see comments]." Lancet 337(8753):1311-1313.

Hammans, S. R., Sweeney, M. G., Hanna, M. G., Brockington, M., Morgan-Hughes, J. A. and Harding, A. E. (1995). "The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study." Brain 118(Pt 3):721-734.

Hammans, S. R., Sweeney, M. G., Holt, I. J., Cooper, J. M., Toscano, A., Clark, J. B., Morgan-Hughes, J. A. and Harding, A. E. (1992). "Evidence for intramitochondrial complementation between deleted and normal mitochondrial DNA in some patients with mitochondrial myopathy." Journal of the Neurological Sciences 107(1):87-92.

Hammans, S. R., Sweeney, M. G., Wicks, D. A., Morgan-Hughes, J. A. and Harding, A. E. (1992). "A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies [published erratum appears in Brain 1993 Feb;116(Pt 1):following 306]." Brain 115(Pt 2):343-365.

Handt, O., Richards, M., Trommsdorff, M., Kilger, C., Simanainen, J., Georgiev, O., Bauer, K., Stone, A., Hedges, R., Schaffner, W., Utermann, G., Sykes, B. and Paabo, S. (1994). "Molecular genetic analyses of the Tyrolean Ice Man." Science 264(5166):1775-1778.

Hanefeld, F. A., Ernst, B. P., Wilichowski, E. and Christen, H. J. (1994). "Leber's hereditary optic neuropathy mitochondrial DNA mutations in childhood multiple sclerosis." Neuropediatrics 25(6):331.

Hanna, M. G., Nelson, I., Sweeney, M. G., Cooper, J. M., Watkins, P. J., Morgan-Hughes, J. A. and Harding, A. E. (1995). "Congenital encephalomyopathy and adult-onset myopathey and diabetes mellitus: different phenotypic associazioni of a new heteroplasmic mtDNA tRNA glutamic acid mutation." American Journal of Human Genetics 56(5):1026-1033.

Hanna, M. G., Nelson, I. P., Morgan-Hughes, J. A. and Wood, N. W. (1998). "MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity." Journal of Neurology, Neurosurgery & Psychiatry 65(4):512-517.

Hanna, M. G., Nelson, I. P., Rahman, S., Lane, R. J., Land, J., Heales, S., Cooper, M. J., Schapira, A. H., Morgan-Hughes, J. A. and Wood, N. W. (1998). "Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA." American Journal of Human Genetics 63(1):29-36.

Hanna, M. G., Vaughan, J. R., Silburn, P. A., Davis, P. T., Greenhall, R. C., Squier, M. V., Mills, K. R., Renowden, S. and Sellar, A. (1997). "Two unusual clinical presentations of the mitochondrial DNA A3243G point mutation in adult neurological practice [letter]." Journal of Neurology, Neurosurgery & Psychiatry 62(5):544-546.

Hanni, C., Laudet, V., Coll, J. and Stehelin, D. (1994). "An unusual mitochondrial DNA sequence variant from an Egyptian mummy." Genomics 22(2):487-489.

Hanson, B., Nuttal, S. and Hoogenraad, N. (1996). "A receptor for the import of proteins into human mitochondria." European Journal of Biochemistry 235(3):750-753.

Hao, H., Bonilla, E., Manfredi, G., DiMauro, S. and Moraes, C. T. (1995). "Segregation patterns of a novel mutation in the mitochondrial tRNA glutamic acid gene associated with myopathy and diabetes mellitus." American Journal of Human Genetics 56(5):1017-1025.

Hao, H., Manfredi, G. and Moraes, C. T. (1997). "Functional and structural features of a tandem duplication of the human mtDNA promoter region." American Journal of Human Genetics 60(6):1363-1372.

Hao, H. and Moraes, C. T. (1997). "A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn)." Molecular and Cellular Biology 17(12):6831-6837.

Hao, H., Morrison, L. E. and Moraes, C. T. (1999). "Suppression of a mitochondrial tRNA gene mutation phenotype associated with changes in the nuclear background." Human Molecular Genetics 8(6):1117-1124.

Hara, H., Wakayama, Y., Kouno, Y., Yamada, H., Tanaka, M. and Ozawa, T. (1994). "Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation." Journal of Neurology, Neurosurgery and Psychiatry 57(12):1545-1546.

Harada, S., Okubo, T., Tsutsumi, M., Takase, S. and Muramatsu, T. (1996). "Investigation of genetic risk factors associated with alcoholism." Alcoholism: Clinical and Experimental Research 20(9 Suppl):293A-296A.

Haraguchi, Y., Chung, A. B., Neill, S. and Wallace, D. C. (1994). "OXBOX and REBOX, overlapping promoter elements of the mitochondrial F0F1-ATP synthase beta subunit gene. OXBOX/REBOX in the ATPsyn beta promoter." Journal of Biological Chemistry 269(12):9330-9334.

Haraguchi, Y., Chung, A. B., Torroni, A., Stepien, G., Shoffner, J. M., Wasmuth, J. J., Costigan, D. A., Polak, M., Altherr, M. R., Winokur, S. T. and Wallace, D. C. (1993). "Genetic mapping of human heart-skeletal muscle adenine nucleotide translocator and its relationship to the facioscapulohumeral muscular dystrophy locus." Genomics 16(2):479-485.

Harding, A. E. (1992). "Spontaneous errors of mitochondrial DNA in human disease." In Mitochondrial DNA in Human Pathology: 53-62; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Harding, A. E., Holt, I. J., Sweeney, M. G., Brockington, M. and Davis, M. B. (1992). "Prenatal diagnosis of mitochondrial DNA8993 T-G disease." American Journal of Human Genetics 50(3):629-633.

Harding, A. E., Riordan-Eva, P. and Govan, G. G. (1995). "Mitochondrial DNA diseases: genotype and phenotype in Leber's hereditary optic neuropathy." Muscle and Nerve 3(4):S82-84.

Harding, A. E., Sweeney, M. G., Govan, G. G. and Riordan-Eva, P. (1995). "Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation." American Journal of Human Genetics 57(1):77-86.

Harding, A. E., Sweeney, M. G., Miller, D. H., Mumford, C. J., Kellar-Wood, H., Menard, D., McDonald, W. I. and Compston, D. A. S. (1992). "Occurrence of a multiple sclerosis-like illness in women who have a Leber's heditary optic neuropathy mitochondrial DNA mutation." Brain 115:979-989.

Hardy, J. A. and Higgins, G. A. (1992). "Alzheimer's disease: the amyloid cascade hypothesis." Science 256(5054):184-185.

Hare, J. F., Ching, E. and Attardi, G. (1980). "Isolation, subunit composition and site of synthesis of human cytochrome c oxidase." Biochemistry 19(10):2023-2030.

Harihara, S., Hirai, M. and Omoto, K. (1986). "Mitochondrial DNA polymorphism in Japanese living in Hokkaido." Japanese Journal of Human Genetics [Jinrui Idengaku Zasshi] 31(2):73-83.

Harihara, S., Hirai, M., Suutou, Y., Shimizu, K. and Omoto, K. (1992). "Frequency of a 9-bp deletion in the mitochondrial DNA among Asian populations." Human Biology 64(2):161-166.

Harihara, S., Saitou, N., Hirai, M., Gojobori, T., Park, K. S., Misawa, S., Ellepola, S. B., Ishida, T. and Omoto, K. (1988). "Mitochondrial DNA polymorphism among five Asian populations." American Journal of Human Genetics 43(2):134-143.

Harman, D. (1972). "The biologic clock: the mitochondria?" Journal of the American Geriatrics Society 20(4):145-147.

top of page

Harrison, D. E. and Archer, J. R. (1983). "Physiological assays for biological age in mice: relationship of collagen, renal function, and longevity." Experimental Aging Research 9(4):245-251.

Harrison, D. E. and Archer, J. R. (1987). "Genetic differences in effects of food restriction on aging in mice." Journal of Nutrition 117(2):376-382.

Harrison, S. M., Jarvie, P. E. and Dunkley, P. R. (1988). "A rapid Percoll gradient procedure for isolation of synaptosomes directly from an S1 fraction: viability of subcellular fractions." Brain Research 441(1-2):72-80.

Harrison, T. J., Boles, R. G., Johnson, D. R., LeBlond, C. and Wong, L. J. (1997). "Macular pattern retinal dystrophy, adult-onset diabetes, and deafness: a family study of A3243G mitochondrial heteroplasmy." American Journal of Ophthalmology 124(2):217-221.

Hartley, J. W., Fredrickson, T. N., Yetter, R. A., Makino, M. and Morse, H. C. d. (1989). "Retrovirus-induced murine acquired immunodeficiency syndrome: natural history of infection and differing susceptibility of inbred mouse strains." Journal of Virology 63(3):1223-1231.

Hartmann, H., Eckert, A. and Muller, W. E. (1994). "Apolipoprotein E and cholesterol affect neuronal calcium signalling: the possible relationship to beta-amyloid neurotoxicity." Biochemical and Biophysical Research Communications 200(3):1185-1192.

Hartzog, P. E. and Cain, B. D. (1994). "Second-site suppressor mutations at glycine 218 and histidine 245 in the alpha subunit of F1F0 ATP synthase in Escherichia coli." Journal of Biological Chemistry 269(51):32313-32317.

Hasegawa, H., Matsuoka, T., Goto, Y. and Nonaka, I. (1993). "Cytochrome c oxidase activity is deficient in blood vessels of patients with myoclonus epilepsy with ragged-red fibers." Acta Neuropathol (Berl) 85(3):280-284.

Hatefi, Y. (1985). "The mitochondrial electron transport and oxidative phosphorylation system." Annual Review of Biochemistry 54:1015-1069.

Hatefi, Y. (1993). "ATP synthesis in mitochondria." European Journal of Biochemistry 218(3):759-767.

Hatefi, Y. and Galante, Y. M. (1980). "Isolation of cytochrome b560 from complex II (succinateubiquinone oxidoreductase) and its reconstitution with succinate dehydrogenase." Journal of Biological Chemistry 255(12):5530-5537.

Hattori, K., Ogawa, T., Kondo, T., Mochizuki, M., Tanaka, M., Sugiyama, S., Ito, T., Satake, T. and Ozawa, T. (1991). "Cardiomyopathy with mitochondrial DNA mutations." American Heart Journal 122(3 Pt 1):866-869.

Hattori, K., Tanaka, M., Sugiyama, S., Obayashi, T., Ito, T., Satake, T., Hanaki, Y., Asai, J., Nagano, M. and Ozawa, T. (1991). "Age-dependent increase in deleted mitochondrial DNA in the human heart: possible contributory factor to presbycardia." American Heart Journal 121(6 Pt 1):1735-1742.

Hattori, N., Suzuki, H., Wang, Y., Minoshima, S., Shimizu, N., Yoshino, H., Kurashima, R., Tanaka, M., Ozawa, T. and Mizuno, Y. (1995). "Structural organization and chromosomal localization of the human nuclear gene (NDUFV2) for the 24-kDa iron-sulfur subunit of complex I in mitochondrial respiratory chain." Biochemical and Biophysical Research Communications 216(3):771-777.

Hattori, N., Tanaka, M., Ozawa, T. and Mizuno, Y. (1991). "Immunohistochemical studies on complexes I, II, III, and IV of mitochondria in Parkinson's disease." Annals of Neurology 30(4):563-571.

Hattori, N., Yoshino, H., Tanaka, M., Suzuki, H. and Mizuno, Y. (1998). "Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease." Genomics 49(1):52-58.

Hattori, Y., Goto, Y., Sakuta, R., Nonaka, I., Mizuna, Y. and Horai, S. (1994). "Point mutations in mitochondrial tRNA genes: sequence analysis of chronic progressive external ophthalmoplegia (CPEO) [see comments]." Journal of the Neurological Sciences 125(1):50-55.

Hauswirth, W. W. and Clayton, D. A. (1985). "Length heterogeneity of a conserved displacement-loop sequence in human mitochondrial DNA." Nucleic Acids Research 13(22):8093-8104.

Hauswirth, W. W., Dickel, C. D., Rowold, D. J. and Hauswirth, M. A. (1994). "Inter- and intrapopulation studies of ancient humans." Experientia 50(6):585-591.

Hayakawa, M., Hattori, H., Sugiyama, S. and Ozawa, T. (1992). "Age-associated oxygen damage and mutations in mitochondrial DNA in human hearts." Biochemical and Biophysical Research Communications 189(2):979-985.

Hayakawa, M., Sugiyama, S., Hattori, K., Takasawa, M. and Ozawa, T. (1993). "Age-associated damage in mitochondrial DNA in human hearts." Molecular and Cellular Biochemistry 119(1-2):95-103.

Hayashi, J., Ohta, S., Kagawa, Y., Takai, D., Miyabayashi, S., Tada, K., Fukushima, H., Inui, K., Okada, S., Goto, Y. and Nonaka, I. (1994). "Functional and morphological abnormalities of mitochondria in human cells containing mitochondrial DNA with pathogenic point mutations in tRNA genes." Journal of Biological Chemistry 269(29):19060-19066.

Hayashi, J., Ohta, S., Kikuchi, A., Takemitsu, M., Goto, Y. and Nonaka, I. (1991). "Introduction of disease-related mitochondrial DNA deletions into HeLa cells lacking mitochondrial DNA results in mitochondrial dysfunction." Proceedings of the National Academy of Sciences of the United States of America 88(23):10614-10618.

Hayashi, J., Ohta, S., Takai, D., Miyabayashi, S., Sakuta, R., Goto, Y. and Nonaka, I. (1993). "Accumulation of mtDNA with a mutation at position 3271 in tRNALeu(UUR) gene introduced from a MELAS patient to HeLa cells lacking mtDNA results in progressive inhibition of mitochondrial respiratory function." Biochemical and Biophysical Research Communications 197(3):1049-1055.

Hayashi, J., Tagashira, Y. and Yoshida, M. C. (1985). "Absence of extensive recombination between inter- and intraspecies mitochondrial DNA in mammalian cells." Experimental Cell Research 160(2):387-395.

Hayashi, J., Takemitsu, M., Goto, Y. and Nonaka, I. (1994). "Human mitochondria and mitochondrial genome function as a single dynamic cellular unit." Journal of Cell Biology 125(1):43-50.

Hayashi, J., Werbin, H. and Shay, J. W. (1986). "Effects of normal human fibroblast mitochondrial DNA on segregation of HeLaTG Mitochondrial DNA and on tumorigenicity of HeLaTG cells." Cancer Research 46(8):4001-4006.

Heckenlively, J. R., Chang, B., Erway, L. C., Peng, C., Hawes, N. L., Hageman, G. C. and Roderick, T. H. (1995). "Mouse model for Usher syndrome: Linkage mapping suggests homology to Usher type I reported at human chromosome 11p15." Proceedings of the National Academy of Sciences of the United States of America 92(24):11100-11104.

Heckenlively, J. R., Winston, J. V. and Roderick, T. H. (1989). "Screening for mouse retinal degenerations. I. Correlation of indirect ophthalmoscopy, electroretinograms, and histology." Documenta Ophthalmologica 71(3):229-239.

Heddi, A., Lestienne, P., Wallace, D. C. and Stepien, G. (1993). "Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production." Journal of Biological Chemistry 268(16):12156-12163.

Heddi, A., Lestienne, P., Wallace, D. C. and Stepien, G. (1994). "Steady state levels of mitochondrial and nuclear oxidative phosphorylation transcripts in Kearns-Sayre syndrome." Biochimica et Biophysica Acta 1226(2):206-212.

Heddi, A., Stepien, G., Benke, P. J. and Wallace, D. C. (1999). "Coordinate induction of energy gene expression in tissues of mitochondrial disease patients." Journal of Biological Chemistry 274(33):22968-22976.

Hedges, S. B., Kumar, S. and Tamura, K. (1991). "Human origins and analysis of mitochondrial DNA sequences [letter; comment]." Science 255(5045):737-739.

Hedges, T. R., Sedwick, L. A. and Newman, N. J. (1995). "Two brothers with bilateral optic neuropathy." Survey of Ophthalmology 39(5):417-424.

Heerdt, B. G., Chen, J., Stewart, L. R. and Augenlicht, L. H. (1994). "Polymorphisms, but lack of mutations or instability, in the promotor region of the mitochondrial genome in human colonic tumors." Cancer Research 54(14):3912-3915.

Hegele, R. A., Zinman, B., Hanley, A. J., Harris, S. and Connelly, P. W. (1997). "A common mtDNA polymorphism associated with variation in plasma triglyceride concentration [letter]." American Journal of Human Genetics 60(6):1552-1555.

Heher, K. L. and Johns, D. R. (1993). "A maculopathy associated with the 15257 mitochondrial DNA mutation." Archives of Ophthalmology 111(11):1495-1499.

Heiman-Patterson, T. D., Argov, Z., Chavin, J. M., Kalman, B., Alder, H., DiMauro, S., Bank, W. and Tahmoush, A. J. (1997). "Biochemical and genetic studies in a family with mitochondrial myopathy." Muscle & Nerve 20(10):1219-1224.

Helbling, B., von Overbeck, J. and Lauterburg, B. H. (1996). "Decreased release of glutathione into the systemic circulation of patients with HIV infection." European Journal of Clinical Investigation 26(1):38-44.

Helgason, A., Sigurdardottir, S., Nicholson, J., Sykes, B., Hill, E. W., Bradley, D. G., Bosnes, V., Gulcher, J. R., Ward, R. and Stefansson, K. (2000). "Estimating Scandinavian and Gaelic ancestry in the male settlers of Iceland." American Journal of Human Genetics 67(3):697-717.

Helgason, A. and Stefansson, K. (2003). "Erroneous claims about the impact of mitochondrial DNA sequence database errors." American Journal of Human Genetics 73(4):974-975.

Helm, M., Brule, H., Degoul, F., Cepanec, C., Leroux, J. P., Giege, R. and Florentz, C. (1998). "The presence of modified nucleotides is required for cloverleaf folding of a human mitochondrial tRNA." Nucleic Acids Research 26(7):1636-1643.

Helm, M., Florentz, C., Chomyn, A. and Attardi, G. (1999). "Search for differences in post-transcriptional modification patterns of mitochondrial DNA-encoded wild-type and mutant human tRNALys and tRNALeu(UUR)." Nucleic Acids Research 27(3):756-763.

Henshaw, R., Jenkins, B. G., Schulz, J. B., Ferrante, R. J., Kowall, N. W., Rosen, B. R. and Beal, M. F. (1994). "Malonate produces striatal lesions by indirect NMDA receptor activation." Brain Research 647(1):161-166.

Herlan, M., Vogel, F., Bornhovd, C., Neupert, W. and Reichert, A. S. (2003). "Processing of Mgm1 by the rhomboid-type protease Pcp1 is required for maintenance of mitochondrial morphology and of mitochondrial DNA." Journal of Biological Chemistry 278(30):27781-27788.

Hermann, G. J., Thatcher, J. W., Mills, J. P., Hales, K. G., Fuller, M. T., Nunnari, J. and Shaw, J. M. (1998). "Mitochondrial fusion in yeast requires the transmembrane GTPase Fzo1p." Journal of Cell Biology 143(2):359-373.

Hernandez, J. M., Blat, B., Iruela, C., Vila, F. and Hernandez-Yago, J. (1998). "Identification of two processed psuedogenes of the human Tom20 gene." Molecular and General Genetics 258(1-2):117-122.

Hertzberg, M., Mickleson, K. N. P., Serjeantson, S. W., Prior, J. F. and Trent, R. J. (1989). "An Asian specific 9-bp deletion of mitochondrial DNA is frequently found in Polynesians." American Journal of Human Genetics 44(4):504-510.

Herzberg, N. H., van Schooneveld, M. J., Bleeker-Wagemakers, E. M., Zwart, R., Cremers, F. P., van der Knaap, M. S., Bolhuis, P. A. and deVisser, M. (1993). "Kearns-Sayre syndrome with a phenocopy of choroideremia instead of pigmentary retinopathy." Neurology 43(1):218-221.

Herzenberg, L. A., De Rosa, S. C., Dubs, J. G., Roederer, M., Anderson, M. T., Ela, S. W. and Deresinski, S. C. (1997). "Glutathione deficiency is associated with impaired survival in HIV disease." Proceedings of the National Academy of Sciences of the United States of America 94(5):1967-1972.

Hess, J., Burkhard, P., Morris, M., Lalioti, M., Myers, P. and Hadengue, A. (1995). "Ischaemic colitis due to mitochondrial cytopathy [letter]." Lancet 346(8968):189-190.

Hess, J. F., Parisi, M. A., Bennett, J. L. and Clayton, D. A. (1991). "Impairment of mitochondrial transcription termination by a point mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies." Nature 351(6323):236-239.

top of page

Hey, J. (1997). "Mitochondrial and nuclear genes present conflicting portraits of human origins." Molecular Biology & Evolution 14(2):166-172.

Hey, J. (1998). "Population genetics and human origins--haplotypes are key: [letter]." Trends in Genetics 14(8):303-305.

Hey, Y., Hoggard, N., Burt, E., James, L. A. and Varley, J. M. (1997). "Assignment of COX6A1 to 6p21 and a pseudogene (COX6A1P) to 1p31.1 by in situ hybridization and somatic cell hybrids." Cytogenetics and Cell Genetics 77(3-4):167-168.

Hightower, M. J., Fairfield, F. R. and Lucas, J. J. (1981). "A staining procedure for identifying viable cell hybrids constructed by somatic cell fusion, cybridization, or nuclear transplantation." Somatic Cell Genetics 7(3):321-329.

Higuti, T., Kawamura, Y., Kuroiwa, K., Miyazaki, S. and Tsujita, H. (1993). "Molecular cloning and sequence of two cDNAs for human subunit c of H+-ATP synthase in mitochondria." Biochim Biophys Acta 1173(1):87-90.

Higuti, T., Tsurumi, C., Osaka, F., Kawamura, Y., Tsujita, H., Yoshihara, Y., Tani, I., Tanaka, K. and Ichihara, A. (1991). "Molecular cloning of cDNA for the import precursor of human subunit B of H(+)-ATP synthase in mitochondria." Biochemical and Biophysical Research Communications 178(3):1014-1020.

Hiida, Y., Mashima, Y., Oguchi, Y., Kudoh, J., Sakai, K. and Shimizu, N. (1992). "Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy." In Molecular Approaches to the Study and Treatment of Human Diseases: 69-71; Amsterdam, Elsevier Science Publishers. Yoshida, T. O. and Wilson, J. M., Eds.

Hiida, Y., Mashima, Y., Oguchi, Y., Uemura, Y., Kudoh, J., Sakai, K. and Shimizu, N. (1991). "Mitochondrial DNA analysis of Leber's hereditary optic neuropathy." Japanese Journal of Ophthalmology 35(1):102-106.

Hildeman, D. A., Mitchell, T., Teague, T. K., Henson, P., Day, B. J., Kappler, J. and Marrack, P. C. (1999). "Reactive oxygen species regulate activation-induced T cell apoptosis." Immunity 10(6):735-744.

Hill, B. C. (1993). "The sequence of electron carriers in the reaction of cytochrome c oxidase with oxygen." Journal of Bioenergetics and Biomembranes 25(2):115-120.

Hill, K., Model, K., Ryan, M. T., Dietmeier, K., Martin, F., Wagner, R. and Pfanner, N. (1998). "Tom40 forms the hydrophilic channel of the mitochondrial import pore for preproteins [see comment]." Nature 395(6701):516-521.

Hinokio, Y., Suzuki, S., Komatu, K., Ohtomo, M., Onoda, M., Matsumoto, M., Hirai, S., Sato, Y., Akai, H., Abe, K. and Toyota, T. (1995). "A new mitochondrial DNA deletion associated with diabetic amyotrophy, diabetic myoatrofia and diabetic fatty liver." Muscle and Nerve 3(9):S142-149.

Hirai, M., Suzuki, S., Onoda, M., Hinokio, Y., Hirai, A., Ohtomo, M., Chiba, M., Kasuga, S., Hirai, S., Satoh, Y., Akai, H., Miyabayashi, S. and Toyota, T. (1998). "Mitochondrial deoxyribonucleic acid 3256C-T mutation in a Japanese family with noninsulin-dependent diabetes mellitus." Journal of Clinical Endocrinology & Metabolism 83(3):992-994.

Hirano, M. and Pavlakis, S. G. (1994). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts." Journal of Child Neurology 9(1):4-13.

Hirano, M., Shtilbans, A., Mayeux, R., Davidson, M. M., DiMauro, S., Knowles, J. A. and Schon, E. A. (1997). "Apparent mtDNA heteroplasmy in Alzheimer's disease patients and in normals due to PCR amplification of nucleus-embedded mtDNA pseudogenes." Proceedings of the National Academy of Sciences of the United States of America 94(26):14894-14899.

Hirawake, H., Taniwaki, M., Tamura, A., Kojima, S. and Kita, K. (1997). "Cytochrome b in human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the components in liver mitochondria and chromosome assignment of the genes for the large (SDHC) and small (SDHD) subunits to 1q21 and 11q23." Cytogenetics and Cell Genetics 79(1-2):132-138.

Hirawake, H., Wang, H., Kuramochi, T., Kojima, S. and Kita, K. (1994). "Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of the flavoprotein (Fp) subunit of liver mitochondria." Journal of Biochemistry (Tokyo) 116(1):221-227.

Hirose, K., Longo, D. L., Oppenheim, J. J. and Matsushima, K. (1993). "Overexpression of mitochondrial manganese superoxide dismutase promotes the survival of tumor cells exposed to interleukin-1, tumor necrosis factor, selected anticancer drugs, and ionizing radiation." FASEB Journal 7(2):361-368.

Hirsch, E. C. (1992). "Why are nigral catecholaminergic neurons more vulnerable than other cells in Parkinson's disease?" Annals of Neurology 32 Suppl:S88-93.

Hirsch, J. D., Beyer, C. F., Malkowitz, L., Beer, B. and Blume, A. J. (1989). "Mitochondrial benzodiazepine receptors mediate inhibition of mitochondrial respiratory control." Molecular Pharmacology 35(1):157-163.

Hirsch, J. D., Beyer, C. F., Malkowitz, L., Loullis, C. C. and Blume, A. J. (1989). "Characterization of ligand binding to mitochondrial benzodiazepine receptors." Molecular Pharmacology 35(1):164-172.

Hirsch, T., Decaudin, D., Susin, S. A., Marchetti, P., Larochette, N., Resche-Rigon, M. and Kroemer, G. (1998). "PK11195, a ligand of the mitochondrial benzodiazepine receptor, facilitates the induction of apoptosis and reverses Bcl-2-mediated cytoprotection." Experimental Cell Research 241(2):426-434.

Hirt, L., Magistretti, P. J., Bogousslavsky, J., Boulat, O. and Borruat, F. X. (1996). "Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia [letter]." Journal of Neurology, Neurosurgery and Psychiatry 61(4):422-423.

Hirvas, L., Koski, P. and Vaara, M. (1991). "Identification and sequence analysis of the gene mutated in the conditionally lethal outer membrane permeability mutant SS-C of Salmonella typhimurium." EMBO Journal 10(4):1017-1023.

Hixson, J. E. and Clayton, D. A. (1985). "Initiation of transcription from each of the two human mitochondrial promoters requires unique nucleotides at the transcriptional start sites." Proceedings of the National Academy of Sciences of the United States of America 82(9):2660-2664.

Hixson, J. E., Wong, T. W. and Clayton, D. A. (1986). "Both the conserved stem-loop and divergent 5'-flanking sequences are required for initiation at the human mitochondrial origin of light-strand DNA replication." Journal of Biological Chemistry 261(5):2384-2390.

Ho, Y. S. and Crapo, J. D. (1988). "Isolation and characterization of complementary DNAs encoding human manganese-containing superoxide dismutase." FEBS Letters 229(2):256-260.

Hockenbery, D., Nunez, G., Milliman, C., Schreiber, R. D. and Korsmeyer, S. J. (1990). "Bcl-2 is an inner mitochondrial membrane protein that blocks programmed cell death." Nature 348(6299):334-336.

Hoess, R. H. and Abremski, K. (1984). "Interaction of the bacteriophage P1 recombinase Cre with the recombining site loxP." Proceedings of the National Academy of Sciences of the United States of America 81(4):1026-1029.

Hoess, R. H., Ziese, M. and Sternberg, N. (1982). "P1 site-specific recombination: nucleotide sequence of the recombining sites." Proceedings of the National Academy of Sciences of the United States of America 79(11):3398-3402.

Hoffman, G. G., Lee, S., Christiano, A. M., Chung-Honet, L. C., Cheng, W., Katchman, S., Uitto, J. and Greenspan, D. S. (1993). "Complete coding sequence, intron/exon organization, and chromosomal location of the gene for the core I protein of human ubiquinol- cytochrome c reductase." Journal of Biological Chemistry 268(28):21113-21119.

Hofhaus, G. and Attardi, G. (1993). "Lack of assembly of mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product [published erratum appears in EMBO J 1994 Dec 1;13(23):5794]v." EMBO Journal 12(8):3043-3048.

Hofhaus, G. and Attardi, G. (1995). "Efficient selection and characterization of mutants of a human cell line which are defective in mitochondrial DNA-encoded subunits of respiratory NADH dehydrogenase (published erratum appears in Mol Cell Biol 1995 Jun;15(6):3461)." Molecular and Cellular Biology 15(2):964-974.

Hofhaus, G., Johns, D. R., Hurko, O., Attardi, G. and Chomyn, A. (1996). "Respiration and growth defects in transmitochondrial cell lines carrying the 11778 mutation associated with Leber's hereditary optic neuropathy." Journal of Biological Chemistry 271(22):13155-13161.

Hofmann, S., Bezold, R., Jaksch, M., Kaufhold, P., Obermaier-Kusser, B. and Gerbitz, K. D. (1997). "Analysis of the mitochondrial DNA from patients with Wolfram (DIDMOAD) syndrome." Molecular & Cellular Biochemistry 174(1-2):209-213.

Hofmann, S., Bezold, R., Jaksch, M., Obermaier-Kusser, B., Mertens, S., Kaufhold, P., Rabl, W., Hecker, W. and Gerbitz, K. D. (1997). "Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes." Genomics 39(1):8-18.

Hofmann, S., Jaksch, M., Bezold, R., Mertens, S., Aholt, S., Paprotta, A. and Gerbitz, K. D. (1997). "Population genetics and disease susceptibility: characterization of central European haplogroups by mtDNA gene mutations, correlation with D loop variants and association with disease." Human Molecular Genetics 6(11):1835-1846.

Hofmann, S., Lichtner, P., Schuffenhauer, S., Gerbitz, K. D. and Meitinger, T. (1998). "Assignment of the human genes coding for cytochrome c oxidase subunits Va (COX5A), VIc (COX6C) and VIIc (COX7C) to chromosome bands 15q25, 8q22-->q23 and 5q14 and of three pseudogenes (COX5AP1, COX6CP1, COX7CP1) to 14q22, 16p12 and 13q14-->q21 by FISH and radiation hybrid mapping." Cytogenetics and Cell Genetics 83(3-4):226-227.

Hogan, D. J. and Maibach, H. I. (1990). "Adverse dermatologic reactions to transdermal drug delivery systems." Journal of the American Academy of Dermatology 22(5 Pt 1):811-814.

Holland, M. M., Fisher, D. L., Mitchell, L. G., Rodriguez, W. C., Canik, J. J., Merril, C. R. and Weedn, V. W. (1993). "Mitochondrial DNA sequence analysis of human skeletal remains: identification of remains from the Vietnam war." Journal of Forensic Sciences 38(3):542-553.

Hollmann, M. and Heinemann, S. (1994). "Cloned glutamate receptors." Annual Review of Neuroscience 17:31-108.

Holme, E., N.G., L., Oldfors, A., Tulinius, M., Sahlin, P. and Stenman, G. (1993). "Multiple symmetric lipomas with high levels of mtDNA with the tRNALys A-G (8344) mutation as the only manifestation of disease in a carrier of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome." American Journal of Human Genetics 52(3):551-556.

Holme, E., Tulinius, M. H., Larsson, N. G. and Oldfors, A. (1995). "Inheritance and expression of mitochondrial DNA point mutations." Biochimica et Biophysica Acta 1271(1):249-252.

Holmes-Walker, D. J., Mitchell, P. and Boyages, S. C. (1998). "Does mitochondrial genome mutation in subjects with maternally inherited diabetes and deafness decrease severity of diabetic retinopathy?" Diabetic Medicine 15(11):946-952.

Holmuhamedov, E., Jahangir, A., Bienengraeber, M., Lewis, L. D. and Terzic, A. (2003). "Deletion of mtDNA disrupts mitochondrial function and structure, but not biogenesis." Mitochondrion 3(1):13-19.

Holt, I. J., Harding, A. E., Cooper, J. M., Schapira, A. H., Toscano, A., Clark, J. B. and Morgan-Hughes, J. A. (1989). "Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA." Annals of Neurology 26(6):699-708.

Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988). "Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies." Nature 331(6158):717-719.

Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1988). "Mitochondrial DNA polymorphism in mitochondrial myopathy." Human Genetics 79(1):53-57.

Holt, I. J., Harding, A. E. and Morgan-Hughes, J. A. (1989). "Deletions of muscle mitochondrial DNA in mitochondrial myopathies: sequence analysis and possible mechanisms." Nucleic Acids Research 17(12):4465-4469.

Holt, I. J., Harding, A. E., Petty, R. K. and Morgan-Hughes, J. A. (1990). "A new mitochondrial disease associated with mitochondrial DNA heteroplasmy." American Journal of Human Genetics 46(3):428-433.

Holt, I. J., Miller, D. H. and Harding, A. E. (1988). "Restriction endonuclease analysis of leukocyte mitochondrial DNA in Leber's optic atrofia." Journal of Neurology, Neurosurgery and Psychiatry 51(8):1075-1077.

Holt, I. J., Miller, D. H. and Harding, A. E. (1989). "Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy." Journal of Medical Genetics 26(12):739-743.

top of page

Hommes, F. A., Polman, H. A. and Reerink, J. D. (1968). "Leigh's encephalomyelopathy: an inborn error of gluconeogenesis." Archives of Disease in Childhood 43(230):423-426.

Hopkin, K. (1999). "Death to sperm mitochondria [news]." Scientific American 280(3):21.

Horai, S., Gojobori, T. and Matsunaga, E. (1984). "Mitochondrial DNA polymorphism in Japanese. I. Analysis with restriction enzymes of six base pair recognition." Human Genetics 68(4):324-332.

Horai, S. and Hayasaka, K. (1990). "Intraspecific nucleotide sequence differences in the major noncoding region of human mitochondrial DNA." American Journal of Human Genetics 46(4):828-842.

Horai, S., Hayasaka, K., Kondo, R., Tsugane, K. and Takahata, N. (1995). "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Proceedings of the National Academy of Sciences of the United States of America 92(2):532-536.

Horai, S., Kondo, R., Murayama, K., Hayashi, S., Koike, H. and Nakai, K. (1991). "Phylogenetic affiliation of ancient and contemporary humans inferred from mitochondrial DNA." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 333(1268):409-417.

Horai, S., Kondo, R., Nakagawa-Hattori, Y., Hayashi, S., Sonoda, S. and Tajima, K. (1993). "Peopling of the Americas, founded by four major lineages of mitochondrial DNA." Molecular Biology and Evolution 10(1):23-47.

Horai, S. and Matsunaga, E. (1986). "Mitochondrial DNA polymorphism in Japanese. II. Analysis with restriction enzymes of four or five base pair recognition." Human Genetics 72(2):105-117.

Hornig, B., Arakawa, N., Kohler, C. and Drexler, H. (1998). "Vitamin C improves endothelial function of conduit arteries in patients with chronic heart failure." Circulation 97(4):363-368.

Horton, T. M., Graham, B. H., Corral-Debrinski, M., Shoffner, J. M., Kaufman, A. E., Beal, B. F. and Wallace, D. C. (1995). "Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's Disease patients." Neurology 45(10):1879-1883.

Horton, T. M., Petros, J. A., Heddi, A., Shoffner, J., Kaufman, A. E., Graham, S. D., Jr., Gramlich, T. and Wallace, D. C. (1996). "Novel mitochondrial DNA deletion found in a renal cell carcinoma." Genes, Chromosomes & Cancer 15(2):95-101.

Horvath, R., Fu, K., Johns, T., Genge, A., Karpati, G. and Shoubridge, E. A. (1998). "Characterization of the mitochondrial DNA abnormalities in the skeletal muscle of patients with inclusion body myositis." Journal of Neuropathology & Experimental Neurology 57(5):396-403.

Hoshino, S., Tamaoka, A., Ohkoshi, N., Shoji, S. and Goto, Y. (1997). "[A case of mitochondrial encephalomyopathy showing ophthalmoplegia, diabetes mellitus and hearing loss associated with the A3243G mutation of mitochondrial DNA]." Rinsho Shinkeigaku - Clinical Neurology 37(4):326-330.

Hosler, J. P., Ferguson-Miller, S., Calhoun, M. W., Thomas, J. W., Hill, J., Lemieux, L., Ma, J., Georgiou, C., Fetter, J., Shapleigh, J., Tecklenburg, M. M. J., Babcock, G. T. and Gennis, R. B. (1993). "Insight into the active-site structure and function of cytochrome oxidase by analysis of site-directed mutants of bacterial cytochrome aa3 and cytochrome bo." Journal of Bioenergetics and Biomembranes 25(2):121-136.

Hosokawa, Y., Suzuki, H., Nishikimi, M., Matsukage, A., Yoshida, M. C. and Ozawa, T. (1990). "Chromosomal assignment of the gene for the ubiquinone-binding protein of human mitochondrial cytochrome bc1 complex." Biochemistry International 21(1):41-44.

Hosokawa, Y., Suzuki, H., Toda, H., Nishikimi, M. and Ozawa, T. (1989). "Complementary DNA encoding core protein II of human mitochondrial cytochrome bc1 complex. Substantial diversity in deduced primary structure from its yeast counterpart." Journal of Biological Chemistry 264(23):13483-13488.

Hotta, Y., Hayakawa, M., Saito, K., Kanai, A., Nakajima, A. and Fujiki, K. (1989). "Diagnosis of Leber's optic neuropathy by means of polymerase chain reaction amplification." American Journal of Ophthalmology 108(5):601-602.

Hou, J. H. and Wei, Y. H. (1998). "AT-rich sequences flanking the 5'-end breakpoint of the 4977-bp deletion of human mitochondrial DNA are located between two bent-inducing DNA sequences that assume distorted structure in organello." Mutation Research 403(1-2):75-84.

Houldsworth, J. and Attardi, G. (1988). "Two distinct genes for ADP/ATP translocase are expressed at the mRNA level in adult human liver." Proceedings of the National Academy of Sciences of the United States of America 85(2):377-381.

Houshmand, M., Larsson, N. G., Holme, E., Oldfors, A., Tulinius, M. H. and Andersen, O. (1994). "Automatic sequencing of mitochondrial tRNA genes in patients with mitochondrial encephalomyopathy." Biochimica et Biophysica Acta 1226(1):49-55.

Houshmand, M., Larsson, N. G., Oldfors, A., Tulinius, M. and Holme, E. (1996). "Fatal mitochondrial myopathy, lactic acidosis, and complex I deficiency associated with a heteroplasmic A --> G mutation at position 3251 in the mitochondrial tRNALeu(UUR) gne." Human Genetics 97(3):269-273.

Houshmand, M., Lindberg, C., Moslemi, A. R., Oldfors, A. and Holme, E. (1999). "A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring." Human Mutation 13(3):203-209.

Houstek, J., Klement, P., Hermanska, J., Houstkova, H., Hansikova, H., Van den Bogert, C. and Zeman, J. (1995). "Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA." Biochimica et Biophysica Acta 1271(2-3):349-357.

Howell, N. (1990). "Glycine-231 residue of the mouse mitochondrial protonmotive cytochrome b: mutation to aspartic acid deranges electron transport." Biochemistry 29(38):8970-8977.

Howell, N. (1994). "Mitochondrial gene mutations and human diseases: a prolegomenon [editorial]." American Journal of Human Genetics 55(2):219-224.

Howell, N. (1997). "Leber hereditary optic neuropathy: how do mitochondrial DNA mutations cause degeneration of the optic nerve?" Journal of Bioenergetics & Biomembranes 29(2):165-173.

Howell, N. (1997). "Leber hereditary optic neuropathy: mitochondrial mutations and degeneration of the optic nerve." Vision Research 37(24):3495-3507.

Howell, N. (1998). "Leber hereditary optic neuropathy: respiratory chain dysfunction and degeneration of the optic nerve." Vision Research 38(10):1495-1504.

Howell, N. (1999). "Human mitochondrial diseases: answering questions and questioning answers." International Review of Cytology 186:49-116.

Howell, N., Appel, J., Cook, J. P., Howell, B. and Hauswirth, W. W. (1987). "The molecular basis of inhibitor resistance in a mammalian mitochondrial cytochrome b mutant." Journal of Biological Chemistry 262(5):2411-2414.

Howell, N., Bantel, A. and Huang, P. (1983). "Mammalian mitochondrial mutants selected for resistance to the cytochrome b inhibitors HQNO or myxothiazol." Somatic Cell Genetics 9(6):721-743.

Howell, N., Bindoff, L. A., McCullough, D. A., Kubacka, I., Poulton, J., Mackey, D., Taylor, L. and Turnbull, D. M. (1991). "Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees." American Journal of Human Genetics 49(5):939-950.

Howell, N., Bogolin, C., Jamieson, R., Marenda, D. R. and Mackey, D. A. (1998). "mtDNA mutations that cause optic neuropathy: how do we know?" American Journal of Human Genetics 62(1):196-202.

Howell, N. and Gilbert, K. (1988). "Mutational analysis of the mouse mitochondrial cytochrome b gene." Journal of Molecular Biology 203(3):607-618.

Howell, N., Halvorson, S., Burns, J., McCullough, D. A. and Poulton, J. (1993). "When does bilateral optic atrofia become Leber hereditary optic atrofia? [letter]." American Journal of Human Genetics 53(4):959-963.

Howell, N., Halvorson, S., Kubacka, I., McCullough, D. A., Bindoff, L. A. and Turnbull, D. M. (1992). "Mitochondrial gene segregation in humans: is the bottleneck always narrow?" Human Genetics 90(1-2):117-120.

Howell, N., Huang, P., Kelliher, K. and Ryan, M. L. (1983). "Mitochondrial genetics of mammalian cells: a mouse antimycin-resistant mutant with a probable alteration of cytochrome b." Somatic Cell Genetics 9(2):143-163.

Howell, N., Kubacka, I., Halvorson, S., Howell, B., McCullough, D. A. and Mackey, D. (1995). "Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees." Genetics 140(1):285-302.

Howell, N., Kubacka, I., Halvorson, S. and Mackey, D. (1993). "Leber's hereditary optic neuropathy: the etiological role of a mutation in the mitochondrial cytochrome b gene [letter]." Genetics 133(1):133-136.

Howell, N., Kubacka, I., Xu, M. and McCullough, D. A. (1991). "Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation." American Journal of Human Genetics 48(5):935-942.

Howell, N., McCullough, D. and Bodis-Wollner, I. (1992). "Molecular genetic analysis of a sporadic case of Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 50(2):443-446.

Howell, N., McCullough, D. A., Kubacka, I., Halvorson, S. and Mackey, D. (1992). "The sequence of human mtDNA: the question of errors versus polymorphisms [letter; comment]." American Journal of Human Genetics 50(6):1333-1340.

Howell, N., Smejkal, C. B., Mackey, D. A., Chinnery, P. F., Turnbull, D. M. and Herrnstadt, C. (2003). "The pedigree rate of sequence divergence in the human mitochondrial genome: there is a difference between phylogenetic and pedigree rates." American Journal of Human Genetics 72(3):659-670.

Howell, N., Xu, M., Halvorson, S., Bodis-Wollner, I. and Sherman, J. (1994). "A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation [letter]." American Journal of Human Genetics 55(1):203-206.

Hrynchak, P.K. and Spafford, M.M. (1994). "Visual recovery in a patient with Leber hereditary optic neuropathy and the 14484 mutation." Optom Vis Sci 71(10):604-612.

Hsieh, C. and Sutton, H. E. (1992). "Mitochondrial and nuclear variants in a U.S. black population: origins of a hybrid population." Annals of Human Genetics 56(Pt 2):105-112.

Hsieh, R.H., Hou, J.H., Hsu, H.S. and Wei, Y.H. (1994)."Age-dependent respiratory function decline and DNA deletions in human muscle mitochondria." Biochemistry and Molecular Biology International (Sydney) 32(6):1009-1022.

Hsieh, R.H., Li, J.Y., Pang, C.Y. and Wei, Y.H. (2001). "A novel mutation in the mitochondrial 16S rRNA gene in a patient with MELAS syndrome, diabetes mellitus, hyperthyroidism and cardiomyopathy." Journal of Biomedical Science 8(4):328-335.

Huang, C.C., Chen, R.S., Chen, C.M., Wang, H.S., Lee, C. C., Pang, C. Y., Hsu, H. S., Lee, H. C. and Wei, Y. H. (1994)."MELAS syndrome with mitochondrial tRNALeu(UUR) gene mutation in a Chinese family." Journal of Neurology, Neurosurgery and Psychiatry 57(5):586-589.

Huang, C.N., Jee, S.H., Hwang, J.J., Kuo, Y.F. and Chuang, L.M. (1998)."Autoimmune IDDM in a sporadic MELAS patient with mitochondrial tRNA(Leu(UUR)) mutation." Clinical Endocrinology 49(2):265-270.

Huang, D.Y., Goedert, M., Jakes, R., Weisgraber, K.H., Garner, C.C., Saunders, A.M., Pericak-Vance, M.A., Schmechel, D.E., Roses, A.D. and Strittmatter, W.J. (1994). "Isoform-specific interactions of apolipoprotein E with the microtubule-associated protein MAP2c: implications for Alzheimer's disease." Neuroscience Letters 182(1):55-58.

top of page

Hughes, S. M. and Blau, H. M. (1990). "Migration of myoblasts across basal lamina during skeletal muscle development." Nature 345(6273):350-353.

Huntington's Disease Collaborative Research Group, The (1993). "A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes." Cell 72(6):971-983.

Huoponen, K., Juvonen, V., Iitia, A., Dahlen, P., Siitari, H., Aula, P., Nikoskelainen, E. and Savontaus, M. L. (1994). "Time-resolved fluorometry in the diagnosis of Leber hereditary optic neuroretinopathy." Human Mutation 3(1):29-36.

Huoponen, K., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E. and Savontaus, J. L. (1993). "The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy." Human Genetics 92(4):379-384.

Huoponen, K., Torroni, A., Wickman, P. R., Sellitto, D., Gurley, D. S., Scozzari, R. and Wallace, D. C. (1997). "Mitochondrial DNA and Y chromosome-specific polymorphisms in the Seminole tribe of Florida." European Journal of Human Genetics 5(1):25-34.

Huoponen, K., Vilkki, J., Aula, P., Nikoskelainen, E. K. and Savontaus, M. L. (1991). "A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy." American Journal of Human Genetics 48(6):1147-1153.

Huoponen, K., Vilkki, J., Savontaus, M. L., Aula, P. and Nikoskelainen, E. K. (1990). "Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy." Genomics 8(3):583-585.

Hurles, M. E., Irven, C., Nicholson, J., Taylor, P. G., Santos, F. R., Loughlin, J., Jobling, M. A. and Sykes, B. C. (1998). "European Y-chromosomal lineages in Polynesians: a contrast to the population structure revealed by mtDNA." American Journal of Human Genetics 63(6):1793-1806.

Husain, K. and Somani, S. M. (1997). "Response of cardiac antioxidant system to alcohol and exercise training in the rat." Alcohol 14(3):301-307.

Hutchin, T. and Cortopassi, G. (1995). "A mitochondrial DNA clone is associated with increased risk for Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 92(15):6892-6895.

Hutchin, T., Haworth, I., Higashi, K., Fischel-Ghodsian, N., Stoneking, M., Saha, N., Arnos, C. and Cortopassi, G. (1993). "A molecular basis for human hypersensitivity to aminoglycoside antibiotics." Nucleic Acids Research 21(18):4174-4179.

Hutchin, T. P. and Cortopassi, G. A. (1997). "Multiple origins of a mitochondrial mutation conferring deafness." Genetics 145(3):771-776.

Hutchin, T. P., Heath, P. R., Pearson, R. C. and Sinclair, A. J. (1997). "Mitochondrial DNA mutations in Alzheimer's disease." Biochemical & Biophysical Research Communications 241(2):221-225.

Hutchin, T.P., Navarro-Coy, N.C., Van Camp, G., Tiranti, V., Zeviani, M., Schuelke, M., Jaksch, M., Newton, V. and Mueller, R.F. (2001). "Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction." European Journal of Human Genetics 9(5):385-387.

Hyslop, S. J., Duncan, A. M., Pitkanen, S. and Robinson, B. H. (1996). "Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13." Genomics 37(3):375-380.

Hyslop, S. J., James, A. M., Maw, M., Fischel-Ghodsian, N. and Murphy, M. P. (1997). "The effect on mitochondrial function of the tRNA Ser(UCN)/COI A7445G mtDNA point mutation associated with maternally-inherited sensorineural deafness." Biochemistry & Molecular Biology International 42(3):567-575.

I

top of page

Iacobazzi, V., Lauria, G. and Palmieri, F. (1997). "Organization and sequence of the human gene for the mitochondrial citrate transport protein." DNA Sequence 7(3-4):127-139.

Ichikawa, K., Yamabe, Y., Imamura, O., Kuromitsu, J., Sugawara, K., Suzuki, N., Shimamoto, A., Matsumoto, T., Tokutake, Y., Kitao, S., Kataoka, H., Satoh, M., Sugimoto, M., Goto, M., Sugawara, M. and Furuichi, Y. (1997). "Cloning and characterization of a novel gene, WS-3, in human chromosome 8p11-p12." Gene 189(2):277-287.

Ikebe, S., Tanaka, M., Ohno, K., Sato, W., Hattori, K., Kondo, T., Mizuno, Y. and Ozawa, T. (1990). "Increase of deleted mitochondrial DNA in the striatum in Parkinson's disease and senescence." Biochemical and Biophysical Research Communications 170(3):1044-1048.

Ikebe, S., Tanaka, M. and Ozawa, T. (1995). "Point mutations of mitochondrial genome in Parkinson's disease." Brain Research. Molecular Brain Research 28(2):281-295.

Ikeda, S., Sumiyoshi, H. and Oda, T. (1994). "DNA binding properties of recombinant human mitochondrial transcription factor 1." Cellular and Molecular Biology 40(4):489-493.

Imai, Y. and Moriwaki, D. (1936). "A probable case of cytoplasmic inheritance in man: a critique of Leber's disease." Journal of Genetics 33:163-167.

Inagaki, T., Ishino, H., Seno, H., Ohguni, S., Tanaka, J. and Kato, Y. (1997). "Psychiatric symptoms in a patient with diabetes mellitus associated with point mutation in mitochondrial DNA." Biological Psychiatry 42(11):1067-1069.

Ino, H., Tanaka, M., Ohno, K., Hattori, K., Ikebe, S., Sano, T., Ozawa, T., Ichiki, T., Kobayashi, M. and Wada, Y. (1990). "Mitochondrial leucine tRNA mutation in a mitochondrial encephalomyopathy [letter; comment]." Lancet 337(8735):234-235.

Inohara, N., Ding, L., Chen, S. and Nunez, G. (1997). "Harakiri, a novel regulator of cell death, encodes a protein that activates apoptosis and interacts selectively with survival-promoting proteins Bcl-2 and Bcl-X(L)." EMBO Journal 16(7):1686-1694.

Inoue, K., Nakada, K., Ogura, A., Isobe, K., Goto, Y., Nonaka, I. and Hayashi, J.-I. (2000). "Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes." Nature Genetics 26(2):176-181.

Inoue, K., Ito, S., Takai, D., Soejima, A., Shisa, H., LePecq, J. B., Segal-Bendirdjian, E., Kagawa, Y. and Hayashi, J. I. (1997). "Isolation of mitochondrial DNA-less mouse cell lines and their application for trapping mouse synaptosomal mitochondrial DNA with deletion mutations." Journal of Biological Chemistry 272(24):15510-15515.

Inui, K., Fukushima, H., Tsukamoto, H., Taniike, M., Midorikawa, M., Tanaka, J., Nishigaki, T. and Okada, S. (1992). "Mitochondrial encephalomyopathies with the mutation of the mitochondrial tRNALeu(UUR) gene." Journal of Pediatrics 120(1):62-66.

Inui, K., Tsukamoto, H., Fukushima, H., Taniike, M., Tanaka, J., Nishigaki, T. and Okada, S. (1992). "Detection of the A to G (3243) mutation of mitochondrial DNA in Japanese families with mitochondrial encephalmyopathies." Journal of Inherited Metabolic Disease 15(3):311-314.

Ionasescu, V. V., Hart, M., DiMauro, S. and Moraes, C. T. (1994). "Clinical and morphologic features of a myopathy associated with a point mutation in the mitochondrial tRNAPro gene." Neurology 44(5):975-977.

Isaka, F., Ishibashi, M., Taki, W., Hashimoto, N., Nakanishi, S. and Kageyama, R. (1999). "Ectopic expression of the bHLH gene Math1 disturbs neural development." European Journal of Neuroscience 11(7):2582-2588.

Isashiki, Y. and Nakagawa, M. (1991). "Clinical correlation of mitochondrial DNA heteroplasmy and Leber's hereditary optic neuropathy." Japanese Journal of Ophthalmology 35(3):259-267.

Isashiki, Y., Nakagawa, M., Ohba, N., Kamimura, K., Sakoda, Y., Higuchi, I., Izumo, S. and Osame, M. (1998). "Retinal manifestations in mitochondrial diseases associated with mitochondrial DNA mutation." Acta Ophthalmologica Scandinavica 76(1):6-13.

Isashiki, Y., Ohba, N., Uto, M. and Nakagawa, M. (1993). "Sequence homology of NADH CoQ reductase subunit IV with nucleotide-requiring enzymes." Japanese Journal of Ophthalmology 37(1):39-42.

Isashiki, Y., Tabata, Y., Kamimura, K. and Ohba, N. (1997). "Genotypes of aldehyde dehydrogenase and alcohol dehydrogenase polymorphisms in patients with Leber's hereditary optic neuropathy." Japanese Journal of Human Genetics 42(1):187-191.

Ishida, K., Morino, T., Takagi, K. and Sukenaga, Y. (1987). "Nucleotide sequence of a human gene for glutathione peroxidase." Nucleic Acids Research 15(23):10051.

Ishii, N., Fujii, M., Hartman, P. S., Tsuda, M., Yasuda, K., Senoo-Matsuda, N., Yanase, S., Ayusawa, D. and Suzuki, K. (1998). "A mutation in succinate dehydrogenase cytochrome b causes oxidative stress and ageing in nematodes [see comments]." Nature 394(6694):694-697.

Ishikawa, S., Ichibe, Y., Yokoe, J. and Wakakura, M. (1995). "Leber's hereditary optic neuropathy among Japanese." Muscle and Nerve 3(9):S85-S89.

Islam, M. M., Tanaka, M., Suzuki, H., Torii, K., Hattori, N. and Ozawa, T. (1994). "A complete cDNA sequence for core I protein subunit of human ubiquinol- cytochrome c reductase [published errata appear in Biochem Mol Biol Int 1994 May;33(2):410 and 1994 Jul;33(4):815]." Biochemistry and Molecular Biology International (Sydney) 32(5):797-805.

Isobe, K., Ito, S., Hosaka, H., Iwamura, Y., Kondo, H., Kagawa, Y. and Hayashi, J. I. (1998). "Nuclear-recessive mutations of factors involved in mitochondrial translation are responsible for age-related respiration deficiency of human skin fibroblasts." Journal of Biological Chemistry 273(8):4601-4606.

Isobe, K., Kishino, S., Inoue, K., Takai, D., Hirawake, H., Kita, K., Miyabayashi, S. and Hayashi, J. I. (1997). "Identification of inheritance modes of mitochondrial diseases by introduction of pure nuclei from mtDNA-less HeLa cells to patient-derived fibroblasts." Journal of Biological Chemistry 272(19):12606-12610.

Ito, S., Inoue, K., Yanagisawa, N., Kaneko, M. and Hayashi, J. (1998). "Long-term postmortem survival of mitochondrial genomes in mouse synaptosomes and their rescue in a mitochondrial DNA-less mouse cell line." Biochemical & Biophysical Research Communications 247(2):432-435.

Ito, S., Ohta, S., Nishimaki, K., Kagawa, Y., Soma, R., Kuno, S., Komatsuzaki, Y., Mizusawa, H. and Hayashi, J. I. (1999). "Functional integrity of mitochondrial genomes in human platelets and autopsied brain tissues from elderly patients with Alzheimer's disease." Proceedings of the National Academy of Sciences of the United States of America 96(5):2099-2103.

Ito, T., Hattori, K., Obayashi, T., Tanaka, M., Sugiyama, S. and Ozawa, T. (1992). "Mitochondrial DNA mutations in cardiomyopathy." Japanese Circulation Journal 56(10):1045-1053.

Itoh, G., Tamura, J., Suzuki, M., Suzuki, Y., Ikeda, H., Koike, M., Nomura, M., Jie, T. and Ito, K. (1995). "DNA fragmentation of human infarcted myocardial cells demonstrated by the nick end labeling method and DNA agarose gel electrophoresis." The American Journal of Pathology 146(6):1325-1331.

Ivanova, R., Astrinidis, A., Lepage, V., Kouvatsi, A., Djoulah, S., Hors, J. and Charron, D. (1999). "Mitochondrial DNA polymorphism in the French population." Biomedicine & Pharmacotherapy 53(4):207-212.

Ivanova, R., Lepage, V., Charron, D. and Schachter, F. (1998). "Mitochondrial genotype associated with French Caucasian centenarians." Gerontology 44(6):349.

Ivanova, R., Lepage, V., Loste, M. N., Schachter, F., Wijnen, E., Busson, M., Cayuela, J. M., Sigaux, F. and Charron, D. (1998). "Mitochondrial DNA sequence variation in human leukemic cells." International Journal of Cancer 76(4):495-498.

Iwata, S., Lee, J. W., Okada, K., Lee, J. K., Iwata, M., Rasmussen, B., Link, T. A., Ramaswamy, S. and Jap, B. K. (1998). "Complete structure of the 11-subunit bovine mitochondrial cytochrome bc1 complex [see comments]." Science 281(5373):64-71.

Iyer, V. R., Eisen, M. B., Ross, D. T., Schuler, G., Moore, T., Lee, J. C. F., Trent, J. M., Staudt, L. M., Hudson, J., Jr., Boguski, M. S., Lashkari, D., Shalon, D., Botstein, D. and Brown, P. O. (1999). "The transcriptional program in the response of human fibroblasts to serum [see comments]." Science 283(5398):83-87.

Izagirre, N. and de la Rua, C. (1999). "An mtDNA analysis in ancient Basque populations: implications for haplogroup V as a marker for a major paleolithic expansion from southwestern europe." American Journal of Human Genetics 65(1):199-207.

J

top of page

Jaatinen, P., Saukko, P. and Hervonen, A. (1993). "Chronic ethanol exposure increases lipopigment accumulation in human heart." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 28(5):559-569.

Jaatinen, P. I., Saukko, P., Sarviharju, M., Kiianmaa, K. and Hervonen, A. (1994). "Effects of lifelong ethanol consumption on the ultrastructure and lipopigmentation of rat heart." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 29(3):269-282.

Jaber, L., Shohat, M., Bu, X., Fischel-Ghodsian, N., Yang, H. Y., Wang, S. J. and Rotter, J. I. (1992). "Sensorineural deafness inherited as a tissue specific mitochondrial disorder." Journal of Medical Genetics 29(2):86-90.

Jabs, E. W., Thomas, P. J., Bernstein, M., Coss, C., Ferreira, G. C. and Pedersen, P. L. (1994). "Chromosomal localization of genes required for the terminal steps of oxidative metabolism: alpha and gamma subunits of ATP synthase and the phosphate carrier." Human Genetics 93(5):600-602.

Jackson, M. J., Bindoff, L. A., Weber, K., Wilson, J. N., Ince, P., Alberti, K. G. and Turnbull, D. M. (1994). "Biochemical and molecular studies of mitochondrial function in diabetes insipidus, diabetes mellitus, optic atrofia, and deafness." Diabetes Care 17(7):728-733.

Jacobs, H. T. (1997). "Mitochondrial deafness." Annals of Medicine 29(6):483-491.

Jacobs, H. T. and Holt, I. J. (2000). "The np 3243 MELAS mutation: damned if you aminoacylate, damned if you don't." Human Molecular Genetics 9(4):463-465.

Jacobsson, A., Stadler, U., Glotzer, M. A. and Kozak, L. P. (1985). "Mitochondrial uncoupling protein from mouse brown fat. Molecular cloning, genetic mapping, and mRNA expression." Journal of Biological Chemistry 260(30):16250-16254.

Jacotot, E., Ravagnan, L., Loeffler, M., Ferri, K. F., Vieira, H. L., Zamzami, N., Costantini, P., Druillennec, S., Hoebeke, J., Briand, J. P., Irinopoulou, T., Daugas, E., Susin, S. A., Cointe, D., Xie, Z. H., Reed, J. C., Roques, B. P. and Kroemer, G. (2000). "The HIV-1 viral protein R induces apoptosis via a direct effect on the mitochondrial permeability transition pore." Journal of Experimental Medicine 191(1):33-46.

Jagust, W. J., Seab, J. P., Huesman, R. H., Valk, P. E., Mathis, C. A., Reed, B. R., Coxson, P. G. and Budinger, T. F. (1991). "Diminished glucose transport in Alzheimer's disease: dynamic PET studies." Journal of Cerebral Blood Flow and Metabolism 11(2):323-330.

Jaksch, M., Hofmann, S., Kaufhold, P., Obermaier-Kusser, B., Zierz, S. and Gerbitz, K. D. (1996). "A novel combination of mitochondrial tRNA and ND1 gen mutations in a syndrome with MELAS, cardiomyopathy, and diabetes mellitus." Human Mutation 7(4):358-360.

Jaksch, M., Hofmann, S., Kleinle, S., Liechti-Gallati, S., Pongratz, D. E., Muller-Hocker, J., Jedele, K. B., Meitinger, T. and Gerbitz, K. D. (1998). "A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy." Journal of Medical Genetics 35(11):895-900.

Jaksch, M., Klopstock, T., Kurlemann, G., Dorner, M., Hofmann, S., Kleinle, S., Hegemann, S., Weissert, M., Muller-Hocker, J., Pongratz, D. and Gerbitz, K. D. (1998). "Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene." Annals of Neurology 44(4):635-640.

James, A. M., Sheard, P. W., Wei, Y. H. and Murphy, M. P. (1999). "Decreased ATP synthesis is phenotypically expressed during increased energy demand in fibroblasts containing mitochondrial tRNA mutations." European Journal of Biochemistry 259(1-2):462-469.

Janetzky, B., Hauck, S., Youdim, M. B., Riederer, P., Jellinger, K., Pantucek, F., Zochling, R., Boissl, K. W. and Reichmann, H. (1994). "Unaltered aconitase activity, but decreased complex I activity in substantia nigra pars compacta of patients with Parkinson's disease." Neuroscience Letters 169(1-2):126-128.

Jansen, J. J., Maassen, J. A., van der Woude, F. J., Lemmink, H. A., van den Ouweland, J. M., tHart, L. M., Smeets, H. J., Bruijn, J. A. and Lemkes, H. H. (1997). "Mutation in mitochondrial tRNA(Leu(UUR)) gene associated with progressive kidney disease." Journal of the American Society of Nephrology 8(7):1118-1124.

Janssen, G. M., Maassen, J. A. and van Den Ouweland, J. M. (1999). "The diabetes-associated 3243 mutation in the mitochondrial tRNA(Leu(UUR)) gene causes severe mitochondrial dysfunction without a strong decrease in protein synthesis rate." Journal of Biological Chemistry 274(42):29744-29748.

Jarstrand, C. and Akerlund, B. (1994). "Oxygen radical release by neutrophils of HIV-infected patients." Chemico-Biological Interactions 91(2-3):141-146.

Jaruga, P. and Dizdaroglu, M. (1996). "Repair of products of oxidative DNA base damage in human cells." Nucleic Acids Research 24(8):1389-1394.

Javed, A. A., Ogata, K. and Sanadi, D. R. (1991). "Human mitochondrial ATP synthase: cloning cDNA for the nuclear-encoded precursor of coupling factor 6." Gene 97(2):307-310.

Javitch, J. A., D'Amato, R. J., Strittmatter, S. M. and Snyder, S. H. (1985). "Parkinsonism-inducing neurotoxin, N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine: uptake of the metabolite N-methyl-4-phenylpyridine by dopamine neurons explains selective toxicity." Proceedings of the National Academy of Sciences of the United States of America 82(7):2173-2177.

Jaya, D. S., Augstine, J. and Menon, V. P. (1993). "Role of lipid peroxides, glutathione and antiperoxidative enzymes in alcohol and drug toxicity." Indian Journal of Experimental Biology 31(5):453-459.

Jazin, E., Soodyall, H., Jalonen, P., Lindholm, E., Stoneking, M. and Gyllensten, U. (1998). "Mitochondrial mutation rate revisited: hot spots and polymorphism." Nature Genetics 18(2):109-110.

Jazin, E. E., Cavelier, L., Eriksson, I., Oreland, L. and Gyllensten, U. (1995). "Estimation of the total amount of mitochondrial DNA sequence heteroplasmy in human brain. Abstract P 031." Euromit III, Third International Meeting on Human Mitochondrial Pathology:142.

Jazin, E. E., Cavelier, L., Eriksson, I., Oreland, L. and Gyllensten, U. (1996). "Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 93(22):12382-12387.

Jean-Francois, M. J., Lertrit, P., Berkovic, S. F., Crimmins, D., Morris, J., Marzuki, S. and Byrne, E. (1994). "Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNALeu(UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies." Australian and New Zealand Journal of Medicine 24(2):188-193.

Jenkins, B. G., Koroshetz, W. J., Beal, M. F. and Rosen, B. R. (1993). "Evidence for impairment of energy metabolism in vivo in Huntington's disease using localized 1H NMR spectroscopy." Neurology 43(12):2689-2695.

Jenner, P., Dexter, D. T., Sian, J., Schapira, A. H. and Marsden, C. D. (1992). "Oxidative stress as a cause of nigral cell death in Parkinson's disease and incidental Lewy body disease." Annals of Neurology 32 Suppl:S82-87.

Jenuth, J. P., Peterson, A. C., Fu, K. and Shoubridge, E. A. (1996). "Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA [see comments]." Nature Genetics 14(2):146-151.

Jenuth, J. P., Peterson, A. C. and Shoubridge, E. A. (1997). "Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice." Nature Genetics 16(1):93-95.

Jessie, B. C., Sun, C. Q., Irons, H. R., Marshall, F. F., Wallace, D. C. and Petros, J. A. (2001). "Accumulation of mitochondrial DNA deletions in the malignant prostate of patients of different ages." Experimental Gerontology 37(1):169-174.

Jiang, S., Cai, J., Wallace, D. C. and Jones, D. P. (1999). "Cytochrome c-mediated apoptosis in cells lacking mitochondrial DNA. Signaling pathway involving release and caspase 3 activation is conserved." Journal of Biological Chemistry 274(42):29905-29911.

Jin, H., May, M., Tranebjaerg, L., Kendall, E., Fontan, G., Jackson, J., Subramony, S. H., Arena, F., Lubs, H., Smith, S., Stevenson, R., Schwartz, C. and Vetrie, D. (1996). "A novel X-linked gene, DDP, shows mutations in families with deafness (DFN-1), dystonia, mental deficiency and blindness." Nature Genetics 14(2):177-180.

Jindal, S., Dudani, A. K., Singh, B., Harley, C. B. and Gupta, R. S. (1989). "Primary structure of a human mitochondrial protein homologous to the bacterial and plant chaperonins and to the 65-kilodalton mycobacterial antigen." Molecular and Cellular Biology 9(5):2279-2283.

Johns, D. (1991). "Allelic mutations of the fourth subunit of NADH dehydrogenase are not pathogenetically important in 11778-negative Leber hereditary optic neuropathy [letter; comment]." American Journal of Human Genetics 48(6):1209-1213.

Johns, D. R. (1990). "The molecular genetics of Leber's hereditary optic neuropathy." Archives of Ophthalmology 108(10):1405-1407.

Johns, D. R. (1990). "MtDNA deletions in Kearns-Sayre [letter; comment]." Neurology 40(8):1322-1323.

Johns, D. R. (1992). "Mitochondrial ND-1 mutation in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 50(4):872-874.

Johns, D. R. (1994). "Reply to Brown et al. ("Pathological significance of the mtDNA COX III mutation at nucleotide pair 9438 in Leber hereditary optic neuropathy", Am. J. Hum. Genet. 55:410, 1994)." American Journal of Human Genetics 55:410-412.

Johns, D. R. and Berman, J. (1991). "Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy." Biochemical and Biophysical Research Communications 174(3):1324-1330.

Johns, D. R. and Cornblath, D. R. (1991). "Molecular insight into the asymmetric distribution of pathogenetic human mitochondrial DNA deletions." Biochemical and Biophysical Research Communications 174(1):244-250.

Johns, D. R., Drachman, D. B. and Hurko, O. (1989). "Identical mitochondrial DNA deletions in blood and muscle [letter]." Lancet 1(8634):393-394.

Johns, D. R., Heher, K. L., Miller, N. R. and Smith, K. H. (1993). "Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation." Archives of Ophthalmology 111(4):495-498.

Johns, D. R. and Hurko, O. (1989). "Preferential amplification and molecular characterization of junction sequences of a pathogenic deletion in human mitochondrial DNA." Genomics 5(3):623-628.

Johns, D. R. and Hurko, O. (1991). "Mitochondrial leucine tRNA mutation in neurological diseases [letter]." Lancet 337(8746):927-928.

Johns, D. R. and Neufeld, M. (1993). "Pitfalls in the molecular genetic diagnosis of Leber hereditary optic neuropathy (LHON)." American Journal of Human Genetics 53(4):916-920.

Johns, D. R. and Neufeld, M. J. (1991). "Cytochrome b mutations in Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 181(3):1358-1364.

Johns, D. R. and Neufeld, M. J. (1993). "Cytochrome c oxidase mutations in Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 196(2):810-815.

Johns, D. R., Neufeld, M. J. and Hedges, T. R. (1994). "Mitochondrial DNA mutations in Cuban optic and peripheral neuropathy." Journal of Neuro-ophthalmology 14(3):135-140.

Johns, D. R., Neufeld, M. J. and Park, R. D. (1992). "An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy." Biochemical and Biophysical Research Communications 187(3):1551-1557.

Johns, D. R., Rutledge, S. L., Stine, O. C. and Hurko, O. (1989). "Directly repeated sequences associated with pathogenic mitochondrial DNA deletions." Proceedings of the National Academy of Sciences of the United States of America 86(20):8059-8062.

Johns, D. R. and Sadun, A. A. (1994). "Cuban epidemic optic neuropathy: mitochondrial DNA analysis [published editorial comment appears in J. Neuro-ophthalmol. 14:129, 1994]." Journal of Neuro-ophthalmology 14(3):130-134.

Johns, D. R., Smith, K. H. and Miller, N. R. (1992). "Leber's Hereditary Optic Neuropathy. Clinical manifestations of the 3460 mutation." Archives of Ophthalmology 110(11):1577-1581.

Johns, D. R., Smith, K. H., Miller, N. R., Sulewski, M. E. and Bias, W. B. (1993). "Identical twins who are discordant for Leber's hereditary optic neuropathy." Archives of Ophthalmology 111(11):1491-1494.

Johns, D. R., Smith, K. H., Savino, P. J. and Miller, N. R. (1993). "Leber's hereditary optic neuropathy. Clinical manifestations of the 15257 mutation." Archives of Ophthalmology 100(7):981-986.

Johns, D. R., Threlkeld, A. B., Miller, N. R. and Hurko, O. (1993). "Multiple mitochondrial DNA deletions in myo-neuro-gastrointestinal encephalopathy syndrome [letter]." American Journal of Ophthalmology 115(1):108-109.

Johnson, K. R., Zheng, Q. Y., Bykhovskaya, Y., Spirina, O. and Fischel-Ghodsian, N. (2001). "A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice." Nature Genetics 27(2):191-194.

Johnson, M. A., Bindoff, L. A. and Turnbull, D. M. (1993). "Cytochrome c oxidase activity in single muscle fibers: assay techniques and diagnostic applications." Annals of Neurology 33(1):28-35.

Johnson, M. J., Wallace, D. C., Ferris, S. D., Rattazzi, M. C. and Cavalli-Sforza, L. L. (1983). "Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns." Journal of Molecular Evolution 19(3-4):255-271.

Johnson, W. G., Hodge, S. E. and Duvoisin, R. (1990). "Twin studies and the genetics of Parkinson's disease--a reappraisal." Movement Disorders 5(3):187-194.

Johnston, W., Karpati, G., Carpenter, S., Arnold, D. and Shoubridge, E. A. (1995). "Late-onset mitochondrial myopathy." Annals of Neurology 37(1):16-23.

Jonassen, T., Proft, M., Randez-Gil, F., Schultz, J. R., Marbois, B. N., Entian, K. D. and Clarke, C. F. (1998). "Yeast Clk-1 homologue (Coq7/Cat5) is a mitochondrial protein in coenzyme Q synthesis." Journal of Biological Chemistry 273(6):3351-3357.

Jones, A. C., Austin, J., Hansen, N., Hoogendoorn, B., Oefner, P. J., Cheadle, J. P. and O'Donovan, M. C. (1999). "Optimal temperature selection for mutation detection by denaturing HPLC and comparison to single-stranded conformation polymorphism and heteroduplex analysis." Clinical Chemistry 45(8 Pt 1):1133-1140.

Jones, P. L., Kucera, G., Gordon, H. and Boss, J. M. (1995). "Cloning and characterization of the murine manganous superoxide dismutase-encoding gene." Gene 153(2):155-161.

Jones-Humble, S. A., Morgan, P. F. and Cooper, B. R. (1994). "The novel anticonvulsant lamotrigine prevents dopamine depletion in C57 black mice in the MPTP animal model of Parkinson's disease." Life Sciences 54(4):245-252.

Jordan, E. M. and Breen, G. A. M. (1992). "Molecular cloning of an import precursor of the delta-subunit of the human mitochondrial ATP synthase complex." Biochimica et Biophysica Acta 1130(1):123-126.

Jorde, L. B., Bamshad, M. J., Watkins, W. S., Zenger, R., Fraley, A. E., Krakowiak, P. A., Carpenter, K. D., Soodyall, H., Jenkins, T. and Rogers, A. R. (1995). "Origins and affinities of modern humans: a comparison of mitochondrial and nuclear genetic data." American Journal of Human Genetics 57(3):523-538.

Jorde, L. B., Rogers, A. R., Bamshad, M., Watkins, W. S., Krakowiak, P., Sung, S., Kere, J. and Harpending, H. C. (1997). "Microsatellite diversity and the demographic history of modern humans." Proceedings of the National Academy of Sciences of the United States of America 94(7):3100-3103.

Jun, A. S., Brown, M. D. and Wallace, D. C. (1994). "A mitochondrial DNA mutation at np 14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia." Proceedings of the National Academy of Sciences of the United States of America 91(13):6206-6210.

Jun, A. S., Trounce, I. A., Brown, M. D., Shoffner, J. M., Kim, Y. L. and Wallace, D. C. (1994). "Marked complex I deficiency in patients harboring the np14459 ND6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy and dystonia." American Journal of Human Genetics 55(Suppl.):A225 (Abst.1311).

Jun, A. S., Trounce, I. A., Brown, M. D., Shoffner, J. M. and Wallace, D. C. (1996). "Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia." Molecular and Cellular Biology 16(3):771-777.

Juvonen, V., Huoponen, K., Syvanen, A. C., Nikoskelainen, E. and Savontaus, M. L. (1994). "Quantification of point mutations associated with Leber hereditary optic neuroretinopathy by solid-phase minisequencing." Human Genetics 93(1):16-20.

Juvonen, V., Nikoskelainen, E., Lamminen, T., Penttinen, M., Aula, P. and Savontaus, M. L. (1997). "Tissue distribution of the ND4/11778 mutation in heteroplasmic lineages with Leber hereditary optic neuropathy." Human Mutation 9(5):412-417.

K

top of page

Kadenbach, B. (1969). "Half-lives of cytochrome c from various organs of the rat." Biochimica et Biophysica Acta 186:399-401.

Kadenbach, B., Jarausch, J., Hartmann, R. and Merle, P. (1983). "Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure." Analytical Biochemistry 129:517-521.

Kadowaki, H., Tobe, K., Mori, Y., Sakura, H., Sakuta, R., Nonaka, I., Hagura, R., Yazaki, Y., Akanuma, Y. and Kadowaki, T. (1993). "Mitochondrial gene mutation and insulin-deficient type of diabetes mellitus [letter]." Lancet 341(8849):893-894.

Kadowaki, T., Kadowaki, H., Mori, Y., Tobe, K., Sakuta, R., Suzuki, Y., Tanabe, Y., Sakura, H., Awata, T., Goto, Y., Hayakawa, T., Matsuoka, K., Kawamori, R., Kamade, T., Horai, S., Nonake, I., Hagura, R., Akanuma, Y. and Yazaki, Y. (1994). "A subtype of diabetes mellitus associated with a mutation of mitochondrial DNA." New England Journal of Medicine 330(14):962-968.

Kadowaki, T., Sakura, H., Otabe, S., Yasuda, K., Kadowaki, H., Mori, Y., Hagura, R., Akanuma, Y. and Yazaki, Y. (1995). "A subtype of diabetes mellitus associated with a mutation in the mitochondrial gene." Muscle and Nerve 3(41):S137-141.

Kagawa, Y., Hamamoto, T., Endo, H., Ichida, M., Shibui, H. and Hayakawa, M. (1997). "Genes of human ATP synthase: their roles in physiology and aging." Bioscience Reports 17(2):115-146.

Kagawa, Y. and Hayashi, J. I. (1997). "Gene therapy of mitochondrial diseases using human cytoplasts." Gene Therapy 4(1):6-10.

Kahn, P. and Gibbons, A. (1997). "DNA from an extinct human [news] [see comments]." Science 277(5323):176-178.

Kalman, B. and Alder, H. (1998). "Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis?" Acta Neurologica Scandinavica 98(4):232-237.

Kalman, B., Lublin, F. D. and Alder, H. (1997). "Impairment of central and peripheral myelin in mitochondrial diseases." Multiple Sclerosis 2(6):267-278.

Kalman, B. and Mandler, R. N. (2002). "Studies of mitochondrial DNA in Devic's disease revealed no pathogenic mutations, but polymorphisms also found in association with multiple sclerosis." Annals of Neurology 51(5):661-662.

Kalman, B., Rodriguez-Valdez, J. L., Bosch, U. and Lublin, F. D. (1997). "Screening for Leber's hereditary optic neuropathy associated mitochondrial DNA mutations in patients with prominent optic neuritis." Multiple Sclerosis 2(6):279-282.

Kamakura, K., Abe, H., Tadano, Y., Nakamura, R., Kobayashi, H., Kawaguchi, S., Nagata, N., Matsuoka, T., Sakuta, R. and Nonaka, I. (1995). "Recurrent respiratory failure in a patient with 3243 mutation in mitochondrial DNA [letter]." Journal of Neurology 242(4):253-255.

Kamboh, M. I., Sanghera, D. K., Ferrell, R. E. and DeKosky, S. T. (1995). "APOE*4-associated Alzheimer's disease risk is modified by alpha 1-antichymotrypsin polymorphism." Nature Genetics 10(4):486-488.

Kameoka, K., Isotani, H., Tanaka, K., Azukari, K., Fujimura, Y., Shiota, Y., Sasaki, E., Majima, M., Furukawa, K., Haginomori, S., Kitaoka, H. and Ohsawa, N. (1998). "Novel mitochondrial DNA mutation in tRNA(Lys) (8296A-->G) associated with diabetes." Biochemical & Biophysical Research Communications 245(2):523-527.

Kameoka, K., Isotani, H., Tanaka, K., Kitaoka, H. and Ohsawa, N. (1998). "Impaired insulin secretion in Japanese diabetic subjects with an A-to-G mutation at nucleotide 8296 of the mitochondrial DNA in tRNA(Lys) [letter]." Diabetes Care 21(11):2034-2035.

Kamimura, N., Ishii, S., Ma, L. D. and Shay, J. W. (1989). "Three separate mitochondrial DNA sequences are contiguous in human genomic DNA." J Mol Biol 210(4):703-707.

Kamo, N., Muratsugu, M., Hongoh, R. and Kobatake, Y. (1979). "Membrane potential of mitochondria measured with an electrode sensitive to tetraphenyl phosphonium and relationship between proton electrochemical potential and phosphorylation potential in steady state." Journal of Membrane Biology 49(2):105-121.

Kanamori, A., Tanaka, K., Umezawa, S., Matoba, K., Fujita, Y., Iizuka, T. and Yajima, Y. (1994). "Insulin resistance in mitochondrial gene mutation." Diabetes Care 17(7):778-779.

Kanamori, A., Tanaka, K., Umezawa, S., Matoba, K., Fujita, Y. and Yajima, Y. (1995). "Response to Walker et al. (Insulin sensitivity and mitochondrial gene mutation)." Diabetes Care 18(2):274-275.

Kaneda, H., Hayashi, J., Takahama, S., Taya, C., Lindahl, K. F. and Yonekawa, H. (1995). "Elimination of paternal mitochondrial DNA in intraspecific crosses during early mouse embryogenesis." Proceedings of the National Academy of Sciences of the United States of America 92(10):4542-4546.

Kang, Y. J., Chen, Y. and Epstein, P. N. (1996). "Suppression of doxorubicin cardiotoxicity by overexpression of catalase in the heart of transgenic mice." Journal of Biological Chemistry 271(21):12610-12616.

Kao, S., Chao, H. T. and Wei, Y. H. (1995). "Mitochondrial deoxyribonucleic acid 4977-bp deletion is associated with diminished fertility and motility of human sperm." Biology of Reproduction 52(4):729-736.

Kao, S. H., Chao, H. T. and Wei, Y. H. (1998). "Multiple deletions of mitochondrial DNA are associated with the decline of motility and fertility of human spermatozoa." Molecular Human Reproduction 4(7):657-666.

Kaplan, R. S., Mayor, J. A. and Wood, D. O. (1993). "The mitochondrial tricarboxylate transport protein. cDNA cloning, primary structure, and comparison with other mitochondrial transport proteins." Journal of Biological Chemistry 268(18):13682-13690.

Kaplitt, M. G., Xiao, X., Samulski, R. J., Li, J., Ojamaa, K., Klein, I. L., Makimura, H., Kaplitt, M. J., Strumpf, R. K. and Diethrich, E. B. (1996). "Long-term gene transfer in porcine myocardium after coronary infusion of an adeno-associated virus vector." Annals of Thoracic Surgery 62(6):1669-1676.

Kapsa, R., Siregar, N., Quigley, A., Ojaimi, J., Katsabanis, S., Sue, C. and Byrne, E. (1997). "The polymerase chain reaction in the study of mitochondrial genetics." Journal of Biochemical & Biophysical Methods 36(1):31-50.

Kapsa, R., Thompson, G. N., Thorburn, D. R., Dahl, H. H., Marzuki, S., Byrne, E. and Blok, R. B. (1994). "A novel mtDNA deletion in an infant with Pearson syndrome." Journal of Inherited Metabolic Disease 17(5):521-526.

Kapsa, R. M., Quigley, A. F., Han, T. F., Jean-Francois, M. J., Vaughan, P. and Byrne, E. (1998). "mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets." Nucleic Acids Research 26(19):4365-4373.

Karin, M. and Richards, R. I. (1982). "Human metallothionein genes--primary structure of the metallothionein-II gene and a related processed gene." Nature 299(5886):797-802.

Karp, L., Weizman, A., Tyano, S. and Gavish, M. (1989). "Examination stress, platelet peripheral benzodiazepine binding sites, and plasma hormone levels." Life Sciences 44(16):1077-1082.

Karpati, G. (1990). "The principles and practice of myoblast transfer." Advances in Experimental Medicine & Biology 280:69-74.

Katagiri, H., Asano, T., Ishihara, H., Inukai, K., Anai, M., Yamanouchi, T., Tsukuda, K., Kikuchi, M., Kitaoka, H., Ohsawa, N., Yazaki, Y. and Oka, Y. (1994). " Mitochondrial diabetes mellitus: prevalence and clinical characterization of diabetes due to mitochondrial tRNALeu(UUR) gene mutation in Japanese patients." Diabetologia 37(5):504-510.

Kataoka, H. and Biswas, C. (1991). "Nucleotide sequence of a cDNA for the alpha subunit of human mitochondrial ATP synthase." Biochimica et Biophysica Acta 1089(3):393-395.

Katayama, M., Tanaka, M., Yamamoto, H., Ohbayashi, T., Nimura, Y. and Ozawa, T. (1991). "Deleted mitochondrial DNA in the skeletal muscle of aged individuals." Biochemistry International 25(1):47-56.

top of page

Kato, T., Stine, O. C., McMahon, F. J. and Crowe, R. R. (1997). "Increased levels of a mitochondrial DNA deletion in the brain of patients with bipolar disorder." Biological Psychiatry 42(10):871-875.

Kato, T., Takahashi, S., Shioiri, T., Murashita, J., Hamakawa, H. and Inubushi, T. (1994). "Reduction of brain phosphocreatine in bipolar II disorder detected by phosphorus-31 magnetic resonance spectroscopy." Journal of Affective Disorders 31(2):125-133.

Kato, T., Winokur, G., McMahon, F. J., DePaulo, J. R. and Crowe, R. R. (1997). "Quantitative analysis of leukocyte mitochondrial DNA deletion in affective disorders." Biological Psychiatry 42(5):311-316.

Kato, Z., Fukuda, S., Tomatsu, S., Vega, H., Yasunaga, T., Yamagishi, A., Yamada, N., Valencia, A., Barrera, L. A., Sukegawa, K., Orii, T. and Kondo, N. (1997). "A novel common missense mutation G301C in the N-acetylgalactosamine-6-sulfate sulfatase gene in mucopolysaccharidosis IVA." Human Genetics 101(1):97-101.

Katsumata, K., Hayakawa, M., Tanaka, M., Sugiyama, S. and Ozawa, T. (1994). "Fragmentation of human heart mitochondrial DNA associated with premature aging." Biochemical and Biophysical Research Communications 202(1):102-110.

Katz, Y., Weizman, R., Weizman, A. and Gavish, M. (1992). "Disulfiram and diethyldithiocarbamate are competitive inhibitors at the peripheral benzodiazepine receptor." Journal of Pharmacology and Experimental Therapeutics 262(1):394-397.

Kaufmann, P., Koga, Y., Shanske, S., Hirano, M., DiMauro, S., King, M. P. and Schon, E. A. (1996). "Mitochondrial DNA and RNA processing in MELAS." Annals of Neurology 40(2):172-180.

Kaukonen, J., Amati, P., Suomalainen, A., Rotig, A., Antozzi, C., Salvi, F., Weissenbach, J., Peltonen, L. and Zeviani, M. (1995). "Identification of a second autosomal locus predisposing to multiple deletions of mitochondrial DNA." American Journal of Human Genetics 57(4):A216 (abstract 1246).

Kaukonen, J. A., Amati, P., Suomalainen, A., Rotig, A., Piscaglia, M. G., Salvi, F., Weissenbach, J., Fratta, G., Comi, G., Peltonen, L. and Zeviani, M. (1996). "An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p." American Journal of Human Genetics 58(4):763-769.

Kaukonen, J., Juselius, J. K., Tiranti, V., Kyttala, A., Zeviani, M., Comi, G. P., Keranen, S., Peltonen, L. and Suomalainen, A. (2000). "Role of adenine nucleotide translocator 1 in mtDNA maintenance." Science 289(5480):782-785.

Kaul, S., Fishbein, M. C. and Siegel, R. J. (1991). "Cardiac manifestations of acquired immune deficiency syndrome: a 1991 update." American Heart Journal 122(2):535-544.

Kaul, S. C., Wadhwa, R., Matsuda, Y., Hensler, P. J., Pereira-Smith, O. M., Komatsu, Y. and Mitsui, Y. (1995). "Mouse and human chromosomal assignments of mortalin, a novel member of the murine hsp70 family of proteins." FEBS Letters 361(2-3):269-272.

Kawai, H., Akaike, M., Yokoi, K., Nishida, Y., Kunishige, M., Mine, H. and Saito, S. (1995). "Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases." Muscle and Nerve 18(7):753-760.

Kawakami, Y., Sakuta, R., Hashimoto, K., Fujino, O., Fujita, T., Hida, M., Horai, S., Goto, Y. and Nonaka, I. (1994). "Mitochondrial myopathy with progressive decrease in mitochondrial tRNALeu(UUR) mutant genomes." Annals of Neurology 35(3):370-373.

Kawarai, T., Kawakami, H., Kozuka, K., Izumi, Y., Matsuyama, Z., Watanabe, C., Kohriyama, T. and Nakamura, S. (1997). "A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G." Neurology 49(2):598-600.

Ke, Y., Su, B., Song, X., Lu, D., Chen, L., Li, H., Qi, C., Marzuki, S., Deka, R., Underhill, P., Xiao, C., Shriver, M., Lell, J., Wallace, D., Wells, R. S., Seielstad, M., Oefner, P., Zhu, D., Jin, J., Huang, W., Chakraborty, R., Chen, Z. and Jin, L. (2001). "African origin of modern humans in East Asia: a tale of 12,000 Y chromosomes." Science 292(5519):1151-1153.

Kearsey, S. E. and Craig, I. W. (1981). "Altered ribosomal RNA genes in mitochondria from mammalian cells with chloramphenicol resistance." Nature 290(5807):607-608.

Keating, M. T. and Sanguinetti, M. C. (1996). "Molecular genetic insights into cardiovascular disease." Science 272(5262):681-685.

Keefe, D. L., Niven-Fairchild, T., Powell, S. and Buradagunta, S. (1995). "Mitochondrial deoxyribonucleic acid deletions in oocytes and reproductive aging in women." Fertility and Sterility 64(3):577-583.

Keightley, J. A., Anitori, R., Burton, M. D., Quan, F., Buist, N. R. and Kennaway, N. G. (2000). "Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene." American Journal of Human Genetics 67(6):1400-1410.

Keightley, J. A., Hoffbuhr, K. C., Burton, M. D., Salas, V. M., Johnston, W. S., Penn, A. M., Buist, N. R. and Kennaway, N. G. (1996). "A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria." Nature Genetics 12(4):410-416.

Kellar-Wood, H., Robertson, N., Govan, G. G., Compston, D. A. and Harding, A. E. (1994). "Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis." Annals of Neurology 36(1):109-112.

Kelly, T. M., Stachula, S. A., Raetz, C. R. and Anderson, M. S. (1993). "The firA gene of Escherichia coli encodes UDP-3-O-(R-3- hydroxymyristoyl)-glucosamine N-acyltransferase. The third step of endotoxin biosynthesis." Journal of Biological Chemistry 268(26):19866-19874.

Kempken, F., Howard, W. and Pring, D. R. (1998). "Mutations at specific atp6 codons which cause human mitochondrial diseases also lead to male sterility in a plant." FEBS Letters 441(2):159-160.

Kennaway, N. G., Burton, M. D., Hall, R. E., Johnston, W. S. W., Keightley, J. A., Salas, V. M. and Tindle, N. A. (1994). "Mitochondrial myopathy and cytochrome c oxidase (COX) deficiency associated with a 15 bp deletion in the gene for COX subunit III." Neurology 44 Suppl 2(4):A335, abstract 827S.

Kennaway, N. G., Keightley, J. A., Burton, M., Hoffbuhr, K. and Buist, N. R. M. (1995). "Single fiber analysis of muscle from a patient with a microdeletion in the gene for cytochrome c oxidase (COX) subunit III. Abstract FC084." EUROMIT III, Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:64.

Kennaway, N. G., Keightley, J. A., Burton, M. D., Quan, F., Libby, B. D. and Buist, N. M. R. (1998). "Mitochondrial encephalomyopathy associated with a nonsense mutation in the cytochrome b (Abstract). In: UCSD Mitochondrial Medicine Conference. San Diego, California, USA. February 19-21, 1998." Molecular Genetics and Metabolism 63(1):49.

Kerr, D. S. (1997). "Protean manifestations of mitochondrial diseases: a minireview." Journal of Pediatric Hematology/Oncology 19(4):279-286.

Kerrison, J. B. and Newman, N. J. (1997). "Clinical spectrum of Leber's hereditary optic neuropathy." Clinical Neuroscience 4(5):295-301.

Keyeux, G., Rodas, C., Gelvez, N. and Carter, D. (2002). "Possible migration routes into South America deduced from mitochondrial DNA studies in Colombian Amerindian populations." Human Biology 74(2):211-233.

Khogali, S. S., Mayosi, B. M., Beattie, J. M., McKenna, W. J., Watkins, H. and Poulton, J. (2001). "A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations." Lancet 357(9264):1265-1267.

Khrapko, K., Bodyak, N., Thilly, W. G., van Orsouw, N. J., Zhang, X., Coller, H. A., Perls, T. T., Upton, M., Vijg, J. and Wei, J. Y. (1999). "Cell-by-cell scanning of whole mitochondrial genomes in aged human heart reveals a significant fraction of myocytes with clonally expanded deletions." Nucleic Acids Research 27(11):2434-2441.

Khrapko, K., Coller, H. A., Andre, P. C., Li, X. C., Hanekamp, J. S. and Thilly, W. G. (1997). "Mitochondrial mutational spectra in human cells and tissues." Proceedings of the National Academy of Sciences of the United States of America 94(25):13798-13803.

Khusnutdinova, E. K., Fatkhlislamova, R. I., Khidiiatova, I. M., Viktorova, T. V. and Grinchuk, O. V. (1997). "[Restriction-deletion polymorphism of the mitochondrial DNA V-region in populations from the Volga-Ural region]." Genetika 33(7):996-1000.

Kim, J. W., Lee, Y., Kang, H. B., Chose, Y. K., Chung, T. W., Chang, S. Y., Lee, K. S. and Choe, I. S. (1997). "Cloning of the human cDNA sequence encoding the NADH:ubiquinone oxidoreductase MLRQ subunit." Biochemistry and Molecular Biology International (Sydney) 43(3):669-675.

Kim, J. Y., Hwang, J. M. and Park, S. S. (2002). "Mitochondrial DNA C4171A/ND1 is a novel primary causative mutation of Leber's hereditary optic neuropathy with a good prognosis." Annals of Neurology 51(5):630-634.

Kim, S. H. and Chi, J. G. (1997). "Characterization of a mitochondrial DNA deletion in patients with mitochondrial myopathy." Molecules & Cells 7(6):726-729.

Kim, S. H., Chi, J. G., Reith, A. and Kadenbach, B. (1997). "Quantitative analysis of mitochondrial DNA deletion in paraffin embedded muscle tissues from patients with KSS and CPEO." Biochimica et Biophysica Acta 1360(3):193-195.

Kim, Y. L., Brown, M. D. and Wallace, D. C. (1995). "Single-strand conformation polymorphism analysis for the detection of point mutations in the mitochondrial DNA." Analytical Biochemistry 224(2):608-611.

Kim, Y. O., Oh, I. U., Park, H. S., Jeng, J., Song, B. J. and Huh, T. L. (1995). "Characterization of a cDNA clone for human NAD(+)-specific isocitrate dehydrogenase alpha-subunit and structural comparison with its isoenzymes from different species." Biochemical Journal 308(Pt 1):63-68.

King, M. P. and Attardi, G. (1988). "Injection of mitochondria into human cells leads to a rapid replacement of the endogenous mitochondrial DNA." Cell 52(6):811-819.

King, M. P. and Attardi, G. (1989). "Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation." Science 246(4929):500-503.

King, M. P., Koga, Y., Davidson, M. and Schon, E. A. (1992). "Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNALeu(UUR) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes." Molecular and Cellular Biology 12(2):480-490.

Kinnally, K. W., Zorov, D. B., Antonenko, Y. N., Snyder, S. H., McEnery, M. W. and Tedeschi, H. (1993). "Mitochondrial benzodiazepine receptor linked to inner membrane ion channels by nanomolar actions of ligands." Proceedings of the National Academy of Sciences of the United States of America 90(4):1374-1378.

Kinouchi, H., Epstein, C. J., Mizui, T., Carlson, E., Chen, S. F. and Chan, P. H. (1991). "Attenuation of focal cerebral ischemic injury in transgenic mice overexpressing CuZn superoxide dismutase." Proceedings of the National Academy of Sciences of the United States of America 88(24):11158-11162.

Kirby, D. M., Kahler, S. G., Freckmann, M. L., Reddihough, D. and Thorburn, D. R. (2000). "Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families." Annals of Neurology 48(1):102-104.

Kirk, R., Furlong, R. A., Amos, W., Cooper, G., Rubinsztein, J. S., Walsh, C., Paykel, E. S. and Rubinsztein, D. C. (1999). "Mitochondrial genetic analyses suggest selection against maternal lineages in bipolar affective disorder." American Journal of Human Genetics 65(2):508-518.

Kishimoto, M., Hashiramoto, M., Kanda, F., Tanaka, M. and Kasuga, M. (1995). "Mitochondrial mutation in diabetic patient with gastrointestinal symptoms." Lancet 345(8947):452.

Kislev, N., Spolsky, C. M. and Eisenstadt, J. M. (1973). "Effect of chloramphenicol on the ultrastructure of mitochondria in sensitive and resistant strains of HeLa." Journal of Cell Biology 57(2):571-579.

Kiss, C., Li, J., Szeles, A., Gizatullin, R. Z., Kashuba, V. I., Lushnikova, T., Protopopov, A. I., Kelve, M., Kiss, H., Kholodnyuk, I. D., Imreh, S., Klein, G. and Zabarovsky, E. R. (1997). "Assignment of the ARHA and GPX1 genes to human chromosome bands 3p21.3 by in situ hybridization and with somatic cell hybrids." Cytogenetics and Cell Genetics 79(3-4):228-230.

Kit, S., Dubbs, D. R., L.J., P. and Hsu, T. S. (1963). Experimental Cell Research 31:297-312.

Kita, K., Oya, H., Gennis, R. B., Ackrell, B. A. and Kasahara, M. (1990). "Human complex II (succinate-ubiquinone oxidoreductase): cDNA cloning of iron sulfur (Ip) subunit of liver mitochondria." Biochemical and Biophysical Research Communications 166(1):101-108.

Kitagawa, T., Suganuma, N., Nawa, A., Kikkawa, F., Tanaka, M., Ozawa, T. and Tomoda, Y. (1993). "Rapid accumulation of deleted mitochondrial deoxyribonucleic acid in postmenopausal ovaries." Biology of Reproduction 49:730-736.

Kiyomoto, B. H., Tengan, C. H., Moraes, C. T., Oliveira, A. S. and Gabbai, A. A. (1997). "Mitochondrial DNA defects in Brazilian patients with chronic progressive external ophthalmoplegia." Journal of the Neurological Sciences 152(2):160-165.

Kleinle, S., Schneider, V., Moosmann, P., Brandner, S., Krahenbuhl, S. and Liechti-Gallati, S. (1998). "A novel mitochondrial tRNA(Phe) mutation inhibiting anticodon stem formation associated with a muscle disease." Biochemical & Biophysical Research Communications 247(1):112-115.

Kleinle, S., Wiesmann, U., Superti-Furga, A., Krahenbuhl, S., Boltshauser, E., Reichen, J. and Liechti-Gallati, S. (1997). "Detection and characterization of mitochondrial DNA rearrangements in Pearson and Kearns-Sayre syndromes by long PCR." Human Genetics 100(5-6):643-650.

top of page

Klembovskii, A. I. and Sukhorukov, V. S. (1997). "[Mitochondrial insufficiency in children]." Arkhiv Patologii 59(5):3-7.

Kliot-Fields, T., Finney, D. A. and Wiseman, A. (1983). "Purification of cybrids by fluorescence-activated cell sorting." Somatic Cell Genetics 9(3):375-389.

Klohn, P.-C., Soriano, M. E., Irwin, W., Penzo, D., Scorrano, L., Bitsch, A., Neumann, H.-G. and Bernardi, P. (2003). "Early resistance to cell death and to onset of the mitochondrial permeability transition during hepatocarcinogenesis with 2-acetylaminofluorene." Proceedings of the National Academy of Sciences of the United States of America 100(17):10014-10019.

Klopstock, T., Naumann, M., Schalke, B., Bischof, F., Seibel, P., Kottlors, M., Eckert, P., Reiners, K., Toyka, K. V. and Reichmann, H. (1994). "Multiple symmetric lipomatosis: abnormalities in complex IV and multiple deletions in mitochondrial DNA." Neurology 44(5):862-866.

Klopstock, T., Naumann, M., Seibel, P., Shalke, B., Reiners, K. and Reichmann, H. (1997). "Mitochondrial DNA mutations in multiple symmetric lipomatosis." Molecular & Cellular Biochemistry 174(1-2):271-275.

Knight, R.D., Freeland, S.J. and Landweber, L.F. (2001). "Rewiring the keyboard: evolvability of the genetic code." Nature Reviews Genetics 2(1):49-58.

Knight, R.D., Landweber, L.F. and Yarus, M. (2001). "How mitochondria redefine the code." Journal of Molecular Evolution 53(4-5):299-313.

Kobayashi, T., Nakanishi, K., Nakase, H., Kajio, H., Okubo, M., Murase, T. and Kosaka, K. (1997). "In situ characterization of islets in diabetes with a mitochondrial DNA mutation at nucleotide position 3243." Diabetes 46(10):1567-1571.

Kobayashi, Y., Ichihashi, K., Ohta, S., Nihei, K., Kagawa, Y., Yanagisawa, M. and Momoi, M. Y. (1992). "The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations." Journal of Inherited Metabolic Disease 15(5):803-808.

Kobayashi, Y., Momoi, M. Y., Tominaga, K., Momoi, T., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1990). "A point mutation in the mitochondrial tRNALeu(UUR) gene in MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes)." Biochemical and Biophysical Research Communications 173(3):816-822.

Kobayashi, Y., Momoi, M. Y., Tominaga, K., Shimoizumi, H., Nihei, K., Yanagisawa, M., Kagawa, Y. and Ohta, S. (1991). "Respiration-deficient cells are caused by a single point mutation in the mitochondrial tRNALeu(UUR) gene in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." American Journal of Human Genetics 49(3):590-599.

Kobayashi, Y., Sharpe, H. and Brown, N. (1994). "Single-cell analysis of intercellular heteroplasmy of mtDNA in Leber hereditary optic neuropathy [letter]." American Journal of Human Genetics 55(1):206-209.

Kocaefe, Y. C., Erdem, S., Ozguc, M. and Tan, E. (2003). "Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome(MNGIE) patients." European Journal of Human Genetics 11(1):102-104.

Koehler, C. M., Jarosch, E., Tokatlidis, K., Schmid, K., Schweyen, R. J. and Schatz, G. (1998). "Import of mitochondrial carriers mediated by essential proteins of the intermembrane space." Science 279(5349):369-373.

Koehler, C. M., Leuenberger, D., Merchant, S., Renold, A., Junne, T. and Schatz, G. (1999). "Human deafness dystonia sydrome is a mitochondrial disease." Proceedings of the National Academy of Sciences of the United States of America 96(5):2141-2146.

Koehler, C. M., Merchant, S., Oppliger, W., Schmid, K., Jarosch, E., Dolfini, L., Junne, T., Schatz, G. and Tokatlidis, K. (1998). "Tim9p, an essential partner subunit of Tim10p for the import of mitochondrial carrier proteins." Embo J 17(22):6477-6486.

Koga, Y., Davidson, M., Schon, E. A. and King, M. P. (1993). "Fine mapping of mitochondrial RNAs derived from the mtDNA region containing a point mutation associated with MELAS." Nucleic Acids Research 21(3):657-662.

Koga, Y., Davidson, M., Schon, E. A. and King, M. P. (1995). "Analysis of cybrids harboring MELAS mutations in the mitochondrial tRNALeu(UUR) gene." Muscle and Nerve 3(23):S119-123.

Koga, Y., Fabrizi, G. M., Mita, S., Arnaudo, E., Lomax, M. I., Aqua, M. S., Grossman, L. I. and Schon, E. A. (1990). "Sequence of a cDNA specifying subunit VIIc of human cytochrome c oxidase." Nucleic Acids Research 18(3):684.

Koga, Y., Ishibashi, M., Ueki, I., Yatsuga, S., Fukiyama, R., Akita, Y. and Matsuishi, T. (2002). "Effects of L-arginine on the acute phase of strokes in three patients with MELAS." Neurology 58(5):827-828.

Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B. and Wallace, D. C. (1996). "MITOMAP: a human mitochondrial genome database." Nucleic Acids Research 24(1):177-179.

Kogelnik, A. M., Lott, M. T., Brown, M. D., Navathe, S. B. and Wallace, D. C. (1997). "MITOMAP: an update on the status of the human mitochondrial genome database." Nucleic Acids Research 25(1):196-199.

Kohen, R., Yamamoto, Y., Cundy, K. C. and Ames, B. N. (1988). "Antioxidant activity of carnosine, homocarnosine, and anserine present in muscle and brain." Proceedings of the National Academy of Sciences of the United States of America 85(9):3175-3179.

Koike, K., Ohta, S., Urata, Y., Kagawa, Y. and Koike, M. (1988). "Cloning and sequencing of cDNAs encoding alpha and beta subunits of human pyruvate dehydrogenase." Proceedings of the National Academy of Sciences of the United States of America 85(1):41-45.

Koike, K., Urata, Y. and Koike, M. (1990). "Molecular cloning and characterization of human pyruvate dehydrogenase beta subunit gene." Proceedings of the National Academy of Sciences of the United States of America 87(15):5594-5597.

Kocaefe, Y. C., Erdem, S., Ozguc, M. and Tan, E. (2003). "Four novel thymidine phosphorylase gene mutations in mitochondrial neurogastrointestinal encephalomyopathy syndrome(MNGIE) patients." European Journal of Human Genetics 11(1):102-104.

Kolman, C. J. and Bermingham, E. (1997). "Mitochondrial and nuclear DNA diversity in the Choco and Chibcha Amerinds of Panama." Genetics 147(3):1289-1302.

Kolman, C. J., Bermingham, E., Cooke, R., Ward, R. H., Arias, T. D. and Guionneau-Sinclair, F. (1995). "Reduced mtDNA diversity in the Ngobe Amerinds of Panama." Genetics 140(1):275-283.

Kolman, C. J., Sambuughin, N. and Bermingham, E. (1996). "Mitochondrial DNA analysis of Mongolian populations and implications for the origin of New World founders." Genetics 142(4):1321-1334.

Komaki, H., Akanuma, J., Iwata, H., Takahashi, T., Mashima, Y., Nonaka, I. and Goto, Y. (2003). "A novel mtDNA C11777A mutation in Leigh syndrome." Mitochondrion 2(4):293-304.

Komiya, T., Rospert, S., Koehler, C., Looser, R., Schatz, G. and Mihara, K. (1998). "Interaction of mitochondrial targeting signals with acidic receptor domains along the protein import pathway: evidence for the 'acid chain' hypothesis." Embo Journal 17(14):3886-3898.

Kong, J. and Xu, Z. (1998). "Massive mitochondrial degeneration in motor neurons triggers the onset of amyotrophic lateral sclerosis in mice expressing a mutant SOD1." Journal of Neuroscience 18(9):3241-3250.

Kong, Q. P., Yao, Y. G., Sun, C., Bandelt, H. J., Zhu, C. L. and Zhang, Y. P. (2003). "Phylogeny of East Asian mitochondrial DNA lineages inferred from complete sequences." American Journal of Human Genetics 73(3):671-676.

Kormann, B. A., Schuster, H., Berninger, T. A. and Leo-Kottler, B. (1991). "Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy." Human Genetics 88(1):98-100.

Korpelainen, H. (1999). "Genetic maternal effects on human life span through the inheritance of mitochondrial DNA." Human Heredity 49(4):183-185.

Kosel, S., Egensperger, R., Mehraein, P. and Graeber, M. B. (1994). "No association of mutations at nucleotide 5460 of mitochondrial NADH dehydrogenase with Alzheimer's disease." Biochemical and Biophysical Research Communications 203(2):745-749.

Kosel, S., Egensperger, R., Schnopp, N. M. and Graeber, M. B. (1997). "The 'common deletion' is not increased in parkinsonian substantia nigra as shown by competitive polymerase chain reaction." Movement Disorders 12(5):639-645.

Koutnikova, H., Campuzano, V., Foury, F., Dolle, P., Cazzalini, O. and Koenig, M. (1997). "Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin." Nature Genetics 16(4):345-351.

Kovalenko, S. A., Harms, P. J., Tanaka, M., Baumer, A., Kelso, J., Ozawa, T. and Linnane, A. W. (1997). "Method for in situ investigation of mitochondrial DNA deletions." Human Mutation 10(6):489-495.

Kovalenko, S. A., Kopsidas, G., Kelso, J., Rosenfeldt, F. and Linnane, A. W. (1998). "Tissue-specific distribution of multiple mitochondrial DNA rearrangements during human aging." Annals of the New York Academy of Sciences 854:171-181.

Kovalenko, S. A., Kopsidas, G., Kelso, J. M. and Linnane, A. W. (1997). "Deltoid human muscle mtDNA is extensively rearranged in old age subjects." Biochemical & Biophysical Research Communications 232(1):147-152.

Kowal, A. T., Morningstar, J. E., Johnson, M. K., Ramsay, R. R. and Singer, T. P. (1986). "Spectroscopic characterization of the number and type of iron-sulfur clusters in NADH:ubiquinone oxidoreductase." Journal of Biological Chemistry 261(20):9239-9245.

Kowald, A. and Kirkwood, T. B. (1993). "Mitochondrial mutations, cellular instability and ageing: modelling the population dynamics of mitochondria." Mutation Research 295(3):93-103.

Kozak, L. P., Britton, J. H., Kozak, U. C. and Wells, J. M. (1988). "The mitochondrial uncoupling protein gene. Correlation of exon structure to transmembrane domains." Journal of Biological Chemistry 263(25):12274-12277.

Kozopas, K. M., Yang, T., Buchan, H. L., Zhou, P. and Craig, R. W. (1993). "MCL1, a gene expressed in programmed myeloid cell differentiation, has sequence similarity to BCL2." Proceedings of the National Academy of Sciences of the United States of America 90(8):3516-3520.

Kretzchmar, H. A., DeArmond, S. J., Koch, T. K., Patel, M. S., Newth, C. J. L., Schmidt, K. A. and Packman, S. (1987). "Pyruvate dehydrogenase complex deficiency as a cause of subacute necrotizing encephalopathy (Leigh's disease)." Pediatrics 79(3):370-373.

Krige, D., Carroll, M. T., Cooper, J. M., Marsden, C. D. and Schapira, A. H. (1992). "Platelet mitochondrial function in Parkinson's Disease." Annals of Neurology 32(6):782-788.

Krings, M., Stone, A., Schmitz, R. W., Krainitzki, H., Stoneking, M. and Paabo, S. (1997). "Neandertal DNA sequences and the origin of modern humans [see comments]." Cell 90(1):19-30.

Kroemer, G., Zamzami, N. and Susin, S. A. (1997). "Mitochondrial control of apoptosis." Immunology Today 18(1):44-51.

Krueger, K. E. (1995). "Molecular and functional properties of mitochondrial benzodiazepine receptors." Biochimica et Biophysica Acta 1241(3):453-470.

Kruse, B., Narasimhan, N. and Attardi, G. (1989). "Termination of transcription in human mitochondria: identification and purification of a DNA binding protein factor that promotes termination." Cell 58(2):391-397.

Ksenzenko, M., Konstantinov, A. A., Khomutov, G. B., Tikhonov, A. N. and Ruuge, E. K. (1983). "Effect of electron transfer inhibitors on superoxide generation in the cytochrome bc1 site of the mitochondrial respiratory chain." FEBS Letters 155(1):19-24.

Ku, D. H., Kagan, J., Chen, S. T., Chang, C. D., Baserga, R. and Wurzel, J. (1990). "The human fibroblast adenine nucleotide translocator gene. Molecular cloning and sequence." Journal of Biological Chemistry 265(27):16060-16063.

Ku, H. H., Brunk, U. T. and Sohal, R. S. (1993). "Relationship between mitochondrial superoxide and hydrogen peroxide production and longevity of mammalian species." Free Radical Biology and Medicine 15(6):621-627.

Kubota, N., Hayashi, J., Inada, T. and Iwamura, Y. (1997). "Induction of a particular deletion in mitochondrial DNA by X rays depends on the inherent radiosensitivity of the cells." Radiation Research 148(4):395-398.

Kuida, K., Haydar, T. F., Kuan, C. Y., Gu, Y., Taya, C., Karasuyama, H., Su, M. S., Rakic, P. and Flavell, R. A. (1998). "Reduced apoptosis and cytochrome c-mediated caspase activation in mice lacking caspase 9." Cell 94(3):325-337.

Kumar, U., Dunlop, D. M. and Richardson, J. S. (1994). "Mitochondria from Alzheimer's fibroblasts show decreased uptake of calcium and increased sensitivity to free radicals." Life Sciences 54(24):1855-1860.

Kunchandy, J. and Kulkarni, S. K. (1988). "Hypoxic stress-induced convulsion and death: protective effect of alpha 2-adrenoceptor and benzodiazepine receptor agonists and Ro 5-4864." Archives Internationales de Pharmacodynamie et de Therapie 292:35-44.

Kunz, D., Luley, C., Fritz, S., Bohnensack, R., Winkler, K., Kunz, W. S. and Wallesch, C. W. (1995). "Oxygraphic evaluation of mitochondrial function in digitonin-permeabilized mononuclear cells and cultured skin fibroblasts of patients with chronic progressive external ophthalmoplegia." Biochemical and Molecular Medicine 54(2):105-111.

Kunz, W. S., Winkler, K., Kuznetsov, A. V., Lins, H., Kirches, E. and Wallesch, C. W. (1997). "Detection of mitochondrial defects by laser fluorimetry." Molecular and Cellular Biochemistry 174(1-2):97-100.

Kurland, C. G. and Andersson, S. G. (2000). "Origin and evolution of the mitochondrial proteome." Microbiology and Molecular Biology Review 64(4):786-820.

Kurosaki, K., Matsushita, T. and Ueda, S. (1993). "Individual DNA identification from ancient human remains." American Journal of Human Genetics 53(3):638-643.

Kurth, J. H., Kurth, M. C., Poduslo, S. E. and Schwankhaus, J. D. (1993). "Association of a monoamine oxidase B allele with Parkinson's disease." Annals of Neurology 33(4):368-372.

Kuwert, T., Lange, H. W., Boecker, H., Titz, H., Herzog, H., Aulich, A., Wang, B. C., Nayak, U. and Feinendegen, L. E. (1993). "Striatal glucose consumption in chorea-free subjects at risk of Huntington's disease [see comments]." Journal of Neurology 241(1):31-36.

Kwoh, T. J., Obermiller, P. S., McCue, A. W., Kwoh, D. Y., Sullivan, S. A. and Gingeras, T. R. (1988). "Introduction and expression of the bacterial PaeR7 restriction endonuclease gene in mouse cells containing the PaeR7 methylase." Nucleic Acids Research 16(24):11489-11506.

Kwong, L. K. and Sohal, R. S. (1998). "Substrate and site specificity of hydrogen peroxide generation in mouse mitochondria." Archives of Biochemistry & Biophysics 350(1):118-126.

L

top of page

Laderman, K. A., Penny, J. R., Mazzucchelli, F., Bresolin, N., Scarlato, G. and Attardi, G. (1996). "Aging-dependent functional alterations of mitochondrial DNA (mtDNA) from human fibroblasts transferred into mtDNA-less cells." Journal of Biological Chemistry 271(27):15891-15897.

Laforet, P., Eymard, B., Danan, C., Chevallay, M., Rouche, A., Frachon, P., Fardeau, M. and Lombes, A. (1997). "[Progressive external ophthalmoplegia of mitochondrial origin: contribution of morphological and molecular studies]." Revue Neurologique 155(1):51-58.

Lahermo, P., Sajantila, A., Sistonen, P., Lukka, M., Aula, P., Peltonen, L. and Savontaus, M. L. (1996). "The genetic relationship between the Finns and the Finnish Saami (Lapps): analysis of nuclear DNA and mtDNA." American Journal of Human Genetics 58(6):1309-1322.

Lalueza, C., Perez-Perez, A., Prats, E., Cornudella, L. and Turbon, D. (1997). "Lack of founding Amerindian mitochondrial DNA lineages in extinct aborigines from Tierra del Fuego-Patagonia." Human Molecular Genetics 6(1):41-46.

Lam, B. L. (1998). "Identical twins no longer discordant for Leber's hereditary optic neuropathy [letter]." Archives of Ophthalmology 116(7):956-957.

Lam, C. W., Lau, C. H., Williams, J. C., Chan, Y. W. and Wong, L. J. (1997). "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) triggered by valproate therapy." European Journal of Pediatrics 156(7):562-564.

Lam, C.W., Yang, T., Tsang, M.W. and Pang, C.P. (2001). "Homoplasmic 3316G-->A in the ND1 gene of the mitochondrial genome: a pathogenic mutation or a neutral polymorphism?" Journal of Medical Genetics 38(3):E10.

Lamminen, T., Huoponen, K., Sistonen, P., Juvonen, V., Lahermo, P., Aula, P., Nikoskelainen, E. and Savontaus, M. L. (1997). "mtDNA haplotype analysis in Finnish families with leber hereditary optic neuroretinopathy." European Journal of Human Genetics 5(5):271-279.

Lamminen, T., Majander, A., Juvonen, V., Wikstrom, M., Aula, P., Nikoskelainen, E. and Savontous, M. L. (1995). "A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy [letter]." American Journal of Human Genetics 56(5):1238-1240.

Lamont, P. J., Surtees, R., Woodward, C. E., Leonard, J. V., Wood, N. W. and Harding, A. E. (1998). "Clinical and laboratory findings in referrals for mitochondrial DNA analysis." Archives of Disease in Childhood 79(1):22-27.

Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E. and DiMauro, S. (2003). "Cerebellar ataxia and coenzyme Q10 deficiency." Neurology 60(7):1206-1208.

Lang, B. F., Burger, G., O'Kelly, C. J., Cedergren, R., Golding, G. B., Lemieux, C., Sankoff, D., Turmel, M. and Gray, M. W. (1997). "An ancestral mitochondrial DNA resembling a eubacterial genome in miniature [see comments]." Nature 387(6632):493-497.

Langer, S. Z. and Arbilla, S. (1988). "Imidazopyridines as a tool for the characterization of benzodiazepine receptors: a proposal for a pharmacological classification as omega receptor subtypes." Pharmacology Biochemsitry and Behavior 29(4):763-766.

Langston, J. W., Ballard, P., Tetrud, J. W. and Irwin, I. (1983). "Chronic parkinsonism in humans due to a product of meperidine-analog synthesis." Science 219(4587):979-980.

LaNoue, K. F., Jeffries, F. M. and Radda, G. K. (1986). "Kinetic control of mitochondrial ATP synthesis." Biochemistry 25(23):7667-7675.

Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., Dubrovsky, T., Chiriboga, C., Angelini, C., Pegoraro, E. and DiMauro, S. (2003). "Cerebellar ataxia and coenzyme Q10 deficiency." Neurology 60(7):1206-1208.

Larcher, J. C., Vayssiere, J. L., Le Marquer, F. J., Cordeau, L. R., Keane, P. E., Bachy, A., Gros, F. and Croizat, B. P. (1989). "Effects of peripheral benzodiazepines upon the O2 consumption of neuroblastoma cells." European Journal of Pharmacology 161(2-3):197-202.

Larsson, N. G. (2002). "Leber hereditary optic neuropathy: a nuclear solution of a mitochondrial problem." Annals of Neurology 52(5):529-530.

Larsson, N. G., Andersen, O., Holme, E., Oldfors, A. and Wahlstrom, J. (1991). "Leber's hereditary optic neuropathy and complex I deficiency in muscle." Annals of Neurology 30(5):701-708.

Larsson, N. G., Eiken, H. G., Boman, H., Holme, E., Oldfors, A. and Tulinius, M. H. (1992). "Lack of transmission of deleted mtDNA from a woman with Kearns-Sayre Syndrome to her child." American Journal of Human Genetics 50(2):360-363.

Larsson, N. G. and Holme, E. (1992). "Multiple short direct repeats associated with single mtDNA deletions." Biochimica et Biophysica Acta 1139(4):311-314.

Larsson, N. G., Holme, E., Kristiansson, B., Oldfors, A. and Tulinius, M. (1990). "Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome." Pediatric Research 28(2):131-136.

Larsson, N. G. and Luft, R. (1999). "Revolution in mitochondrial medicine." FEBS Letters 455(3):199-202.

Larsson, N. G., Oldfors, A., Holme, E. and Clayton, D. A. (1994). "Low levels of mitochondrial transcription factor A in mitochondrial DNA depletion." Biochemical and Biophysical Research Communications 200(3):1374-1381.

Larsson, N. G., Tulinius, M. H., Holme, E. and Oldfors, A. (1995). "Pathogenetic aspects of the A8344G mutation of mitochondrial DNA associated with MERRF syndrome and multiple symmetric lipomas." Muscle and Nerve 3(6):S102-106.

Larsson, N.-G., Tulinius, M. H., Holme, E., Oldfors, A., Andersen, O., Wahlstrom, J. and Aasly, J. (1992). "Segregation and manifestations of the mtDNA tRNALys A-G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) syndrome." American Journal of Human Genetics 51(6):1201-1212.

Larsson, N. G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S. and Clayton, D. A. (1998). "Mitochondrial transcription factor A is necessary for mtDNA maintenance and embryogenesis in mice [see comments]." Nature Genetics 18(3):231-236.

Lauber, J., Marsac, C., Kadenbach, B. and Seibel, P. (1991). "Mutations in mitochondrial tRNA genes: a frequent cause of neuromuscular diseases." Nucleic Acids Research 19(7):1393-1397.

Law, P. K., Goodwin, T. G., Li, H. J. and Chen, M. (1990). "Plausible structural/functional/behavioral/biochemical transformations following myoblast transfer therapy." Advances in Experimental Medicine & Biology 280:241-250.

Law, R. H., Farrell, L. B., Nero, D., Devenish, R. J. and Nagley, P. (1988). "Studies on the import into mitochondria of yeast ATP synthase subunits 8 and 9 encoded by artificial nuclear genes." FEBS Letters 236(2):501-505.

Le Fur, G., Perrier, M. L., Vaucher, N., Imbault, F., Flamier, A., Benavides, J., Uzan, A., Renault, C., Dubroeucq, M. C. and Gueremy, C. (1983). "Peripheral benzodiazepine binding sites: effect of PK 11195, 1-(2- chlorophenyl)-N-methyl-N-(1-methylpropyl)-3-isoquinolinecarboxamide. I. In vitro studies." Life Sciences 32(16):1839-1847.

Leber, T. (1871). "Ueber hereditare un congenital-angelegte Sehnervenleiden." Albrecht von Graefe's Archiv fur Klinische und Experimentalle Ophthalmologie 17:249-291.

Lebovitz, R. M., Zhang, H., Vogel, H., Cartwright, J., Jr., Dionne, L., Lu, N., Huang, S. and Matzuk, M. M. (1996). "Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice." Proceedings of the National Academy of Sciences of the United States of America 93(18):9782-9787.

Leckschat, S., Ream-Robinson, D. and Scheffler, I. E. (1993). "The gene for the iron sulfur protein of succinate dehydrogenase (SDH-IP) maps to human chromosome 1p35-36.1." Somat Cell Mol Genet 19(5):505-511.

LeDoux, S. P., Wilson, G. L., Beecham, E. J., Stevnsner, T., Wassermann, K. and Bohr, V. A. (1992). "Repair of mitochondrial DNA after various types of DNA damage in Chinese hamster ovary cells." Carcinogenesis 13(11):1967-1973.

LeDoux, S. P., Wilson, G. L. and Bohr, V. A. (1993). "Mitochondrial DNA repair and cell injury." In Mitochondrial Dysfunction, Methods in Toxicology 2: 461-476; New York, Academic Press. Jones, D. P. and Lash, L., Eds.

Lee, C. K., Klopp, R. G., Weindruch, R. and Prolla, T. A. (1999). "Gene expression profile of aging and its retardation by caloric restriction." Science 285(5432):1390-1393.

Lee, C. M., Weindruch, R. and Aiken, J. M. (1997). "Age-associated alterations of the mitochondrial genome." Free Radical Biology and Medicine 22(7):1259-1269.

Lee, H. C., Lim, M. L., Lu, C. Y., Liu, V. W., Fahn, H. J., Zhang, C., Nagley, P. and Wei, Y. H. (1999). "Concurrent increase of oxidative DNA damage and lipid peroxidation together with mitochondrial DNA mutation in human lung tissues during aging--smoking enhances oxidative stress on the aged tissues." Archives of Biochemistry & Biophysics 362(2):309-316.

Lee, H. C., Pang, C. Y., Hsu, H. S. and Wei, Y. H. (1994). "Ageing-associated tandem duplications in the D-loop of mitochondrial DNA of human muscle." FEBS Letters 354(1):79-83.

Lee, H. C., Pang, C. Y., Hsu, H. S. and Wei, Y. H. (1994). "Differential accumulations of 4,977 bp deletion in mitochondrial DNA of various tissues in human ageing." Biochimica et Biophysica Acta 1226(1):37-43.

Lee, H. C., Song, Y. D., Li, H. R., Park, J. O., Suh, H. C., Lee, E., Lim, S., Kim, K. and Huh, K. (1997). "Mitochondrial gene transfer ribonucleic acid (tRNA)Leu(UUR) 3243 and tRNA(Lys) 8344 mutations and diabetes mellitus in Korea." Journal of Clinical Endocrinology & Metabolism 82(2):372-374.

Lee, H. C. and Wei, Y. H. (1997). "Mutation and oxidative damage of mitochondrial DNA and defective turnover of mitochondria in human aging." Journal of the Formosan Medical Association 96(10):770-778.

Lee, S. D., Shin, C. H., Kim, K. B., Lee, Y. S. and Lee, J. B. (1997). "Sequence variation of mitochondrial DNA control region in Koreans." Forensic Science International 87(2):99-116.

Leeuwin, R. S., Zeegers, A. and Van Wilgenburg, H. (1996). "PK 11195 antagonizes the positive inotropic response of the isolated rat heart to diazepam but not the negative inotropic response." European Journal of Pharmacology 299(1-3):149-152.

Leijon, M., Sehlstedt, U., Nielsen, P. E. and Graslund, A. (1997). "Unique base-pair breathing dynamics in PNA-DNA hybrids." Journal of Molecular Biology 271(3):438-455.

Lell, J. T., Brown, M. D., Schurr, T. G., Sukernik, R. I., Starikovskaya, Y. B., Torroni, A., Moore, L. G., Troup, G. M. and Wallace, D. C. (1997). "Y chromosome polymorphisms in native American and Siberian populations: identification of native American Y chromosome haplotypes." Human Genetics 100(5-6):536-543.

Lell, J. T., Sukernik, R. I., Starikovskaya, Y. B., Su, B., Jin, L., Schurr, T. G., Underhill, P. A. and Wallace, D. C. (2002). "The dual origin and Siberian affinities of Native American Y chromosomes." American Journal of Human Genetics 70(1):192-206.

top of page

Lemmers, R. J., van der Maarel, S. M., van Deutekom, J. C., van der Wielen, M. J., Deidda, G., Dauwerse, H. G., Hewitt, J., Hofker, M., Bakker, E., Padberg, G. W. and Frants, R. R. (1998). "Inter- and intrachromosomal sub-telomeric rearrangements on 4q35: implications for facioscapulohumeral muscular dystrophy (FSHD) aetiology and diagnosis." Human Molecular Genetics 7(8):1207-1214.

Lemza, S. V., Sokolova, O. V. and Puzyrev, V. P. (1992). "Mitochondrial DNA polymorphism in Russians from west Siberia." Human Heredity 42(2):129-133.

Lenaz, G. (1998). "Role of mitochondria in oxidative stress and ageing." Biochimica et Biophysica Acta 1366(1-2):53-67.

Leo-Kottler, B., Christ-Adler, M., Baumann, B., Zrenner, E. and Wissinger, B. (1996). "Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene." German Journal of Ophthalmology 5(4):233-240.

Lerman, L. S., Silverstein, K. and Grinfeld, E. (1986). "Searching for gene defects by denaturing gradient gel electrophoresis." Cold Spring Harbor Symposia on Quantitative Biology 51(Pt 1):285-297.

Leroy, D. and Norby, S. (1994). "A new human mtDNA polymorphism: tRNAGln/4336 T(C)." Clinical Genetics 45(2):109-110.

Lertrit, P., Kapsa, R. M. I., Jean-Francois, M. J. B., Thyagarajan, D., Noer, A. S., Marzuki, S. and Byrne, E. (1994). "Mitochondrial DNA polymorphism in disease: a possible contributor to respiratory dysfunction." Human Molecular Genetics 3(11):1973-1981.

Lertrit, P., Noer, A. S., Byrne, E. and Marzuki, S. (1992). "Tissue segregation of a heteroplasmic mtDNA mutation in MERRF (myoclonic epilepsy with ragged red fibers) encephalomyopathy." Human Genetics 90(3):251-254.

Lertrit, P., Noer, A. S., Jean-Francois, M. J., Kapsa, R., Dennett, X., Thyagarajan, D., Lethlean, K., Byrne, E. and Marzuki, S. (1992). "A new disease-related mutation for mitochondrial encephalopathy lactic acidosis and strokelike episodes (MELAS) syndrome affects the ND4 subunit of the respiratory complex I [see comments]." American Journal of Human Genetics 51(3):457-468.

Lestienne, P. (1989). "Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects." Biochimie 71(11-12):1115-1123.

Lestienne, P. (1997). "[Do mitochondria play a role in aging?]." Comptes Rendus des Seances de la Societe de Biologie et de Ses Filiales 191(4):579-592.

Lestienne, P., Bataille, N. and Lucas-Heron, B. (1995). "Role of the mitochondrial DNA and calmitine in myopathies." Biochimica et Biophysica Acta 1271(1):159-163.

Lestienne, P. and Ponsot, G. (1988). "Kearns-Sayre syndrome with muscle mitochondrial DNA deletion [letter]." Lancet 1(8590):885.

Lestienne, P., Reynier, P., Chretien, M. F., Penisson-Besnier, I., Malthiery, Y. and Rohmer, V. (1997). "Oligoasthenospermia associated with multiple mitochondrial DNA rearrangements." Molecular Human Reproduction 3(9):811-814.

Letellier, T., Heinrich, R., Malgat, M. and Mazat, J. P. (1994). "The kinetic basis of threshold effects observed in mitochondrial diseases:a systemic approach." Biochemical Journal 302(Pt 1):171-174.

Letellier, T., Malgat, M., Rossignol, R. and Mazat, J. P. (1998). "Metabolic control analysis and mitochondrial pathologies." Molecular & Cellular Biochemistry 184(1-2):409-417.

Leuzzi, V., Carducci, C., Lenza, M., Salvetti, M., Ristori, G., Di Giovanni, S. and Torroni, A. (1997). "LHON mutations in Italian patients affected by multiple sclerosis." Acta Neurologica Scandinavica 96(3):145-148.

Levanon, D., Lieman-Hurwitz, J., Dafni, N., Wigderson, M., Sherman, L., Bernstein, Y., Laver-Rudich, Z., Danciger, E., Stein, O. and Groner, Y. (1985). "Architecture and anatomy of the chromosomal locus in human chromosome 21 encoding the Cu/Zn superoxide dismutase." EMBO Journal 4(1):77-84.

Levenson, R., Macara, I. G., Smith, R. L., Cantley, L. and Housman, D. (1982). "Role of mitochondrial membrane potential in the regulation of murine erythroleukemia cell differentiation." Cell 28(4):855-863.

Levin, B. C., Cheng, H. and Reeder, D. J. (1999). "A human mitochondrial DNA standard reference material for quality control in forensic identification, medical diagnosis, and mutation detection." Genomics 55(2):135-146.

Levine, R. L., Williams, J. A., Stadtman, E. R. and Shacter, E. (1994). "Carbonyl assays for determination of oxidatively modified proteins." Methods in Enzymology 233:346-357.

Levy, S. E., Waymire, K. G., Kim, Y. L., MacGregor, G. R. and Wallace, D. C. (1999). "Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse." Transgenic Research 8(2):137-145.

Levy-Lahad, E., Wasco, W., Poorkaj, P., Romano, D. M., Oshima, J., Pettingell, W. H., Yu, C. E., Jondro, P. D., Schmidt, S. D., Wang, K., Crowley, A. C., Fu, Y.-H., Guenette, S. Y., Galas, D., Nemens, E., Wijsman, E. M., Bird, T. D., Schellenberg, G. D. and Tanzi, R. E. (1995). "Candidate gene for the chromosome 1 familial Alzheimer's disease locus [see comments]." Science 269(5226):973-977.

Lewis, D.W., Erickson, C.E. and Castora, F.J. (1994). "Mutation analysis of mitochondrial transfer RNA genes in Rett syndrome. Abtract 229." Pediatric Neurology 11(2):143-144.

Lewis, P.D., Baxter, P., Griffiths, A.P., Parry, J.M. and Skibinski, D.O. (2000). "Detection of damage to the mitochondrial genome in the oncocytic cells of Warthin's tumour." Journal of Pathology 191(3):274-281.

Lewis, P.D., Baxter, P.W., Griffiths, A.P., Parry, J.M. and Skibinski, D.O. (2000). "Authors' reply. Mitochondrial DNA damage and oncocytic neoplasia." Journal of Pathology 192(4):562-563.

Lezza, A. M., Boffoli, D., Scacco, S., Cantatore, P. and Gadaleta, M. N. (1994). "Correlation between mitochondrial DNA 4977-bp deletion and respiratory chain enzyme activities in aging human skeletal muscles." Biochemical and Biophysical Research Communications 205(1):772-779.

Lezza, A. M., Cormio, A., Gerardi, P., Silvestri, G., Servidei, S., Serlenga, L., Cantatore, P. and Gadaleta, M. N. (1997). "Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy." FEBS Letters 418(1-2):167-170.

Li, H., Wang, J., Wilhelmsson, H., Hansson, A., Thoren, P., Duffy, J., Rustin, P. and Larsson, N. G. (2000). "Genetic modification of survival in tissue-specific knockout mice with mitochondrial cardiomyopathy." Proceedings of the National Academy of Sciences of the United States of America 97(7):3467-3472.

Li, K., Hodge, J. A. and Wallace, D. C. (1990). "OXBOX, a positive transcriptional element of the heart-skeletal muscle ADP/ATP translocator gene." Journal of Biological Chemistry 265(33):20585-20588.

Li, K., Warner, C. K., Hodge, J. A., Minoshima, S., Kudoh, J., Fukuyama, R., Maekawa, M., Shimizu, Y., Shimizu, N. and Wallace, D. C. (1989). "A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed." Journal of Biological Chemistry 264(24):13998-14004.

Li, X. J., Li, S. H., Sharp, A. H., Nucifora, F. C., Jr., Schilling, G., Lanahan, A., Worley, P., Snyder, S. H. and Ross, C. A. (1995). "A huntingtin-associated protein enriched in brain with implications for pathology." Nature 378(6555):398-402.

Li, X. J., Sharp, A. H., Li, S. H., Dawson, T. M., Snyder, S. H. and Ross, C. A. (1996). "Huntingtin-associated protein (HAP1): discrete neuronal localizations in the brain resemble those of neuronal nitric oxide synthase." Proceedings of the National Academy of Sciences of the United States of America 93(10):4839-4844.

Li, Y., Huang, T. T., Carlson, E. J., Melov, S., Ursell, P. C., Olson, J. L., Noble, L. J., Yoshimura, M. P., Berger, C., Chan, P. H., Wallace, D. C. and Epstein, C. J. (1995). "Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase." Nature Genetics 11(4):376-381.

Li, Y. Y., Hengstenberg, C. and Maisch, B. (1995). "Whole mitochondrial genome amplification reveals basal level multiple deletions in mtDNA of patients with dilated cardiomyopathy." Biochemical and Biophysical Research Communications 210(1):211-218.

Liang, B., Ardestani, S., Chow, H. H., Eskelson, C. and Watson, R. R. (1996). "Vitamin E deficiency and immune dysfunction in retrovirus-infected C57BL/6 mice are prevented by T-cell receptor peptide treatment." The Journal of Nutrition 126(5):1389-1397.

Liang, B., Chung, S., Araghiniknam, M., Lane, L. C. and Watson, R. R. (1996). "Vitamins and immunomodulation in AIDS." Nutrition 12(1):1-7.

Liang, B., Wang, J. Y. and Watson, R. R. (1996). "Murine AIDS, a key to understanding retrovirus-induced immunodeficiency." Viral Immunology 9(4):225-239.

Liang, B., Zhang, Z., Araghiniknam, M., Eskelson, C. and Watson, R. R. (1997). "Prevention of retrovirus-induced aberrant cytokine secretion, excessive lipid peroxidation, and tissue vitamin E deficiency by T cell receptor peptide treatments in C57BL/6 mice." Proceedings of the Society for Experimental Biology and Medicine 214(1):87-94.

Liang, M. H., Johnson, D. R. and Wong, L. J. (1998). "Preparazione and validation of PCR-generated positive controls for diagnostic dot blotting [published erratum appears in Clin Chem 1998 Sep;44(9):2070]." Clinical Chemistry 44(7):1578-1579.

Liang, M. H. and Wong, L. J. (1998). "Novel nucleotide substitutions in mitochondrial DNA." Journal of Inherited Metabolic Disease 21(8):871-873.

Liang, M. H. and Wong, L. J. (1998). "Yield of mtDNA mutation analysis in 2,000 patients." American Journal of Medical Genetics 77(5):395-400.

Liang, P., Hughes, V. and Fukagawa, N. K. (1997). "Increased prevalence of mitochondrial DNA deletions in skeletal muscle of older individuals with impaired glucose tolerance: possible marker of glycemic stress [published erratum appears in Diabetes 1997 Sep;46(9):1532]." Diabetes 46(5):920-923.

Liang, P. and Pardee, A. B. (1992). "Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction." Science 257(5072):967-971.

Liao, H. X. and Spremulli, L. L. (1990). "Effects of length and mRNA secondary structure on the interaction of bovine mitochondrial ribosomes with messenger RNA." Journal of Biological Chemistry 265(20):11761-11765.

Lifton, R. P. (1995). "Genetic determinants of human hypertension." Proceedings of the National Academy of Sciences of the United States of America 92(19):8545-8451.

Lifton, R. P. (1996). "Molecular genetics of human blood pressure variation." Science 272(5262):676-680.

Lightowlers, R. N., Chinnery, P. F., Turnbull, D. M. and Howell, N. (1997). "Mammalian mitochondrial genetics: heredity, heteroplasmy and disease." Trends in Genetics 13(11):450-455.

Lightowlers, R. N., Jacobs, H. T. and Kajander, O. A. (1999). "Mitochondrial DNA--all things bad?" Trends in Genetics 15(3):91-93.

top of page

Like, A. A. and Rossini, A. A. (1976). "Streptozotocin-induced pancreatic insulitis: new model of diabetes mellitus." Science 193(4251):415-417.

Limbach, K. J. and Wu, R. (1985). "Characterization of a mouse somatic cytochrome c gene and three cytochrome c pseudogenes." Nucleic Acids Research 13(2):617-631.

Lin, D., Chang, Y. J., Strauss, J. F. d. and Miller, W. L. (1993). "The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia." Genomics 18(3):643-650.

Lin, D., Chang, Y. J., Strauss, J. F. I. and Miller, W. L. (1993). "The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia." Genomics 18(3):643-650.

Lin, F., Lin, R., Wisniewski, H. M., Hwang, Y., Grundke-Iqbal, I., Healy-Louie, G. and Iqbal, K. (1992). "Detection of point mutations in codon 331 of mitochondrial NADH dehydrogenase subunit 2 in Alzheimer's brains." Biochemical and Biophysical Research Communications 182(1):238-246.

Lin, X., Wells, D. E., Kimberling, W. J. and Kumar, S. (1999). "Human NDUFB9 gene: genomic organization and a possible candidate gene associated with deafness disorder mapped to chromosome 8q13." Human Heredity 49(2):75-80.

Lindholm, E., Cavelier, L., Howell, W. M., Eriksson, I., Jalonen, P., Adolfsson, R., Blackwood, D. H., Muir, W. J., Brookes, A. J., Gyllensten, U. and Jazin, E. E. (1997). "Mitochondrial sequence variants in patients with schizophrenia." European Journal of Human Genetics 5(6):406-412.

Lindner, A., Hofmann, E., Naumann, M., Becker, G. and Reichmann, H. (1997). "Clinical, morphological, biochemical, and neuroradiological features of mitochondrial encephalomyopathies. Presentation of 19 patients." Molecular and Cellular Biochemistry 174(1-2):297-303.

Linke, P. and Weiss, H. (1986). "Reconstitution of ubiquinol-cytochrome c reductase from Neurospora mitochondria with regard to subunits I and II." Methods in Enzymology 126:201-210.

Linnane, A. W., Baumer, A., Maxwell, R. J., Preston, H., Zhang, C. and Marzuki, S. (1990). "Mitochondrial gene mutation: the aging process and degenerative diseases." Biochemistry International 22(6):1067-1076.

Linnane, A. W., Kovalenko, S. and Gingold, E. B. (1998). "The universality of bioenergetic disease. Age-associated cellular bioenergetic degradation and amelioration therapy." Annals of the New York Academy of Sciences 854:202-213.

Linnane, A. W., Marzuki, S., Ozawa, T. and Tanaka, M. (1989). "Mitochondrial DNA mutations as an important contributor to ageing and degenerative diseases." Lancet 1(8639):642-645.

Linnane, A. W., Zhang, C., Baumer, A. and Nagley, P. (1992). "Mitochondrial DNA mutation and the ageing process: bioenergy and pharmacological intervention." Mutation Research 275(3-6):195-208.

Liou, C. W., Huang, C. C., Chee, E. C., Jong, Y. J., Tsai, J. L., Pang, C. Y., Lee, H. C. and Wei, Y. H. (1994). "MELAS syndrome: correlation between clinical features and molecular genetic analysis." Acta Neurologica Scandinavica 90(5):354-359.

Littlefield, J. W. (1964). Nature 203:1142-1144.

Littlefield, N. A., Blackwell, B. N., Hewitt, C. C. and Gaylor, D. W. (1985). "Chronic toxicity and carcinogenicity studies of gentian violet in mice." Fundam Appl Toxicol 5(5):902-912.

Littlefield, N. A., Gaylor, D. W., Blackwell, B. N. and Allen, R. R. (1989). "Chronic toxicity/carcinogenicity studies of sulphamethazine in B6C3F1 mice." Food & Chemical Toxicology 27(7):455-463.

Liu, A. M., Mak, S. C., Tsai, C. R. and Chi, C. S. (1998). "Childhood MELAS syndrome presenting with seizure and cortical blindness: a case report." Chung Hua i Hsueh Tsa Chih - Chinese Medical Journal 61(12):730-735.

Liu, C. S., Kao, S. H. and Wei, Y. H. (1997). "Smoking-associated mitochondrial DNA mutations in human hair follicles." Environmental & Molecular Mutagenesis 30(1):47-55.

Liu, P. K., Hsu, C. Y., Dizdaroglu, M., Floyd, R. A., Kow, Y. W., Karakaya, A., Rabow, L. E. and Cui, J. K. (1996). "Damage, repair, and mutagenesis in nuclear genes after mouse forebrain ischemia-reperfusion." Journal of Neuroscience 16(21):6795-6806.

Liu, V. W., Zhang, C., Linnane, A. W. and Nagley, P. (1997). "Quantitative allele-specific PCR: demonstration of age-associated accumulation in human tissues of the A-->G mutation at nucleotide 3243 in mitochondrial DNA." Human Mutation 9(3):265-271.

Liu, V. W., Zhang, C. and Nagley, P. (1998). "Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing." Nucleic Acids Research 26(5):1268-1275.

Liu, V. W., Zhang, C., Pang, C. Y., Lee, H. C., Lu, C. Y., Wei, Y. H. and Nagley, P. (1998). "Independent occurrence of somatic mutations in mitochondrial DNA of human skin from subjects of various ages." Human Mutation 11(3):191-196.

Liu, X., Kim, C. N., Yang, J., Jemmerson, R. and Wang, X. (1996). "Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c." Cell 86(1):147-157.

Livingstone, I. R., Mastaglia, F. L., Howe, J. W. and Aherne, G. E. (1980). "Leber's optic neuropathy: clinical and visual evoked response studies in asymptomatic and symptomatic members of a 4-generation family." British Journal of Ophthalmology 64(10):751-757.

Lockhart, D. J., Dong, H., Byrne, M. C., Follettie, M. T., Gallo, M. V., Chee, M. S., Mittmann, M., Wang, C., Kobayashi, M., Horton, H. and Brown, E. L. (1996). "Expression monitoring by hybridization to high-density oligonucleotide arrays." Nature Biotechnology 14(13):1675-1680.

Lodi, R., Montagna, P., Iotti, S., Zaniol, P., Barboni, P., Puddu, P. and Barbiroli, B. (1994). "Brain and muscle energy metabolism studied in vivo by 31P-magnetic resonance spectroscopy in NARP syndrome." Journal of Neurology, Neurosurgery and Psychiatry 57(12):1492-1496.

Lodi, R., Taylor, D. J., Tabrizi, S. J., Kumar, S., Sweeney, M., Wood, N. W., Styles, P., Radda, G. K. and Schapira, A. H. (1997). "In vivo skeletal muscle mitochondrial function in Leber's hereditary optic neuropathy assessed by 31P magnetic resonance spectroscopy." Annals of Neurology 42(4):573-579.

Loeffen, J., Smeets, R., Smeitink, J., Triepels, R., Sengers, R., Trijbels, F. and van den Heuvel, L. (1999). "The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients." Journal of Inherited Metabolic Disease 22(1):19-28.

Loeffen, J., Smeitink, J., Triepels, R., Smeets, R., Schuelke, M., Sengers, R., Trijbels, F., Hamel, B., Mullaart, R. and van den Heuvel, L. (1998). "The first nuclear-encoded complex I mutation in a patient with Leigh Syndrome." American Journal of Human Genetics 63(6):1598-1608.

Loeffen, J., van den Heuvel, L., Smeets, R., Triepels, R., Sengers, R., Trijbels, F. and Smeitink, J. (1998). "cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed." Biochemical and Biophysical Research Communications 247(3):751-758.

Loeffen, J. L., Triepels, R. H., van den Heuvel, L. P., Schuelke, M., Buskens, C. A., Smeets, R. J., Trijbels, J. M. and Smeitink, J. A. (1998). "cDNA of eight nuclear encoded subunits of NADH:ubiquinone oxidoreductase: human complex I cDNA characterization completed." Biochemical and Biophysical Research Communications 253(2):415-422.

Lomax, M. I. and Grossman, L. I. (1989). "Tissue-specific genes for respiratory proteins." Trends in Biochemical Sciences 14:501-503.

Lomax, M. I., Hsieh, C. L., Darras, B. T. and Francke, U. (1991). "Structure of the human cytochrome c oxidase subunit Vb gene and chromosomal mapping of the coding gene and of seven pseudogenes." Genomics 10(1):1-9.

Lomax, M. I., Welch, M. D., Darras, B. T., Francke, U. and Grossman, L. I. (1990). "Novel use of a chimpanzee pseudogene for chromosomal mapping of human cytochrome c oxidase subunit IV." Gene 86(2):209-216.

Lombardo, M. C., van der Zwaan, J. W., Brul, S. and Tager, J. M. (1992). "A procedure for selecting mammalian cells with an impairment in oxidative phosphorylation." Biochimica et Biophysica Acta 1138(4):275-281.

Lorenc, A., Bryk, J., Golik, P., Kupryjanczyk, J., Ostrowski, J., Pronicki, M., Semczuk, A., Szolkowska, M. and Bartnik, E. (2003). "Homoplasmic MELAS A3243G mtDNA mutation in a colon cancer sample." Mitochondrion 3(2):119-124.

Lorenz, J. G. and Smith, D. G. (1994). "Distribution of the 9-bp mitochondrial DNA region V deletion among North American Indians." Human Biology 66(5):777-788.

Loschen, G., Azzi, A., Richter, C. and Flohe, L. (1974). "Superoxide radicals as precursors of mitochondrial hydrogen peroxide." FEBS Letters 42(1):68-72.

Lott, M. T., Voljavec, A. S. and Wallace, D. C. (1990). "Variable genotype of Leber's hereditary optic neuropathy patients." American Journal of Ophthalmology 109(6):625-631.

Love, S., Nicoll, J. A. and Kinrade, E. (1993). "Sequencing and quantitative assessment of mutant and wild-type mitochondrial DNA in paraffin sections from cases of MELAS." Journal of Pathology 170(1):9-14.

Loveland, B., Wang, C. R., Yonekawa, H., Hermel, E. and Fischer-Lindahl, D. (1990). "Maternally transmitted histocompatibility antigen of mice: a hydrophobic peptide of a mitochondrially encoded protein." Cell 60(6):971-980.

Lowenstein, C. J., Hill, S. L., Lafond-Walker, A., Wu, J., Allen, G., Landavere, M., Rose, N. R. and Herskowitz, A. (1996). "Nitric oxide inhibits viral replication in murine myocarditis." Journal of Clinical Investigation 97(8):1837-1843.

Lowis, G. W., Sheremata, W. A., Wickman, P. R., Dube, S., Dube, K. and Poiesz, B. J. (1999). "HTLV-II risk factors in Native Americans in Florida." Neuroepidemiology 18(1):37-47.

Lu, C. Y., Lee, H. C., Fahn, H. J. and Wei, Y. H. (1999). "Oxidative damage elicited by imbalance of free radical scavenging enzymes is associated with large-scale mtDNA deletions in aging human skin." Mutation Research 423(1-2):11-21.

Luciakova, K., Sokolikova, B., Chloupkova, M. and Nelson, B. D. (1999). "Enhanced mitochondrial biogenesis is associated with increased expression of the mitochondrial ATP-dependent Lon protease." FEBS Letters 444(2-3):186-188.

Lucking, C. B., Kosel, S., Mehraein, P. and Graeber, M. B. (1995). "Absence of the mitochondrial A7237T mutation in Parkinson's disease." Biochemical and Biophysical Research Communications 211(2):700-704.

Lucotte, G., Guerin, P., Halle, L., Loirat, F. and Hazout, S. (1989). "Y chromosome DNA polymorphisms in two African populations." American Journal of Human Genetics 45(1):16-20.

Lucotte, G. and Loirat, F. (1999). "Y-chromosome DNA haplotype 15 in Europe." Human Biology 71(3):431-437.

Luder, A. and Barash, V. (1994). "Complex I deficiency with diabetes, Fanconi syndrome and mtDNA deletion." Journal of Inherited Metabolic Disease 17(3):298-300.

Luft, R. (1994). "The development of mitochondrial medicine." Proceedings of the National Academy of Sciences of the United States of America 91(19):8731-8738.

Luft, R., Ikkos, D., Palmieri, G., Ernster, L. and Afzelius, B. A. (1962). "A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical, and morphological study." Journal of Clinical Investigation 41:1776-1804.

Lum, J. K. and Cann, R. L. (1998). "mtDNA and language support a common origin of Micronesians and Polynesians in Island Southeast Asia." American Journal of Physical Anthropology 105(2):109-119.

Lum, J. K., Rickards, O., Ching, C. and Cann, R. L. (1994). "Polynesian mitochondrial DNAs reveal three deep maternal lineage clusters." Human Biology 66(4):567-590.

Lunardi, J., Darrouzet, E., Dupuis, A. and Issartel, J. P. (1998). "The nuoM arg368his mutation in NADH:ubiquinone oxidoreductase from Rhodobacter capsulatus: a model for the human nd4-11778 mtDNA mutation associated with Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1407(2):114-124.

Lundin, K., Wilichowski, E., Ernst, B. P. and Hanefeld, F. (1997). "S1 nuclease hybrid analysis of mitochondrial DNA amplified by long-distance PCR: rapid screening for small-scale rearrangements." Nucleic Acids Research 25(12):2535-2536.

Lutsenko, S. and Cooper, M. J. (1998). "Localization of the Wilson's disease protein product to mitochondria." Proceedings of the National Academy of Sciences of the United States of America 95(11):6004-6009.

Lutter, R., Saraste, M., van Walraven, H. S., Runswick, M. J., Finel, M., Deatherage, J. F. and Walker, J. E. (1993). "F1F0-ATP synthase from bovine heart mitochondria: development of the purification of a monodisperse oligomycin-sensitive ATPase." Biochemical Journal 295(Pt 3):799-806.

Lynn, S., Wardell, T., Johnson, M. A., Chinnery, P. F., Daly, M. E., Walker, M. and Turnbull, D. M. (1998). "Mitochondrial diabetes: investigation and identification of a novel mutation." Diabetes 47(11):1800-1802.

M

top of page

Ma, H., Kunes, S., Schatz, P. J. and Botstein, D. (1987). "Plasmid construction by homologous recombination in yeast." Gene 58(2-3):201-216.

Maassen, J. A., van den Ouweland, J. M., tHart, L. M. and Lemkes, H. H. (1997). "Maternally inherited diabetes and deafness: a diabetic subtype associated with a mutation in mitochondrial DNA." Hormone & Metabolic Research 29(2):50-55.

Maca-Meyer, N., Gonzalez, A.M., Larruga, J.M., Flores, C. and Cabrera, V.M. (2001). "Major genomic mitochondrial lineages delineate early human expansions." BMC Genetics 2(1):13.

Maca-Meyer, N., Sanchez-Velasco, P., Flores, C., Larruga, J. M., Gonzalez, A. M., Oterino, A. and Leyva-Cobian, F. (2003). "Y chromosome and mitochondrial DNA characterization of Pasiegos, a human isolate from Cantabria (Spain)." Annals of Human Genetics 67(4):329-339.

Macaulay, V., Richards, M., Hickey, E., Vega, E., Cruciani, F., Guida, V., Scozzari, R., Bonne-Tamir, B., Sykes, B. and Torroni, A. (1999). "The emerging tree of West Eurasian mtDNAs: a synthesis of control-region sequences and RFLPs." American Journal of Human Genetics 64(1):232-249.

Macaulay, V. A., Richards, M. B., Forster, P., Bendall, K. E., Watson, E., Sykes, B. and Bandelt, H. J. (1997). "mtDNA mutation rates--no need to panic." American Journal of Human Genetics 61(4):983-990.

MacGregor, R. R. (1987). "Alcohol and drugs as co-factors for AIDS." Advances in Alcohol & Substance Abuse 7(2):47-71.

Macho, A., Castedo, M., Marchetti, P., Aguilar, J. J., Decaudin, D., Zamzami, N., Girard, P. M., Uriel, J. and Kroemer, G. (1995). "Mitochondrial dysfunctions in circulating T lymphocytes from human immunodeficiency virus-1 carriers." Blood 86(7):2481-2487.

Mack, S. J. and Erlich, H. A. (1998). "HLA class II polymorphism in the Ticuna of Brazil: evolutionary implications of the DRB10807 allele." Tissue Antigens 51(1):41-50.

Mackey, D. and Howell, N. (1992). "A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology." American Journal of Human Genetics 51(6):1218-1228.

Mackey, D. A. (1994). "Three subgroups of patients from the United Kingdom with Leber hereditary optic neuropathy." Eye 8(Pt 4):431-436.

Mackey, D. A. and Buttery, R. G. (1992). "Leber hereditary optic neuropathy in Australia." Australian and New Zealand Journal of Ophthalmology 20(3):177-184.

Mackey, D. A., Oostra, R. J., Rosenberg, T., Nikoskelainen, E., Bronte-Stewart, J., Poulton, J., Harding, A. E., Govan, G., Bolhuis, P. A. and Norby, S. (1996). "Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy." American Journal of Human Genetics 59(2):481-485.

Macmillan, C., Kirkham, T., Fu, K., Allison, V., Andermann, E., Chitayat, D., Fortier, D., Gans, M., Hare, H., Quercia, N., Zackon, D. and Shoubridge, E. A. (1998). "Pedigree analysis of French Canadian families with 14484 T>C Leber's hereditary optic neuropathy." Neurology 50(2):417-422.

Macmillan, C., Lach, B. and Shoubridge, E. A. (1993). "Variable distribution of mutant mitochondrial DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation." Neurology 43(8):1586-1590.

Macreadie, I. G., Novitski, C. E., Maxwell, R. J., John, U., Ooi, B. G., McMullen, G. L., Lukins, H. B., Linnane, A. W. and Nagley, P. (1983). "Biogenesis of mitochondria: the mitochondrial gene (aap1) coding for mitochondrial ATPase subunit 8 in Saccharomyces cerevisiae." Nucleic Acids Research 11(13):4435-4451.

Madden, J. J., Donahoe, R. M., Zwemer-Collins, J., Shafer, D. A. and Falek, A. (1987). "Binding of naloxone to human T lymphocytes." Biochemical Pharmacology 36(23):4103-4109.

Madden, J. J., Ketelsen, D., Whaley, W. L., Donahoe, R. M. and Oleson, D. (1995). "Mitogenic activation of human T lymphocytes induces a high affinity morphine binding site." Advances in Experimental Medicine and Biology 373:37-40.

Madden, J. J., Whaley, W. L. and Ketelsen, D. (1998). "Opiate binding sites in the cellular immune system: expression and regulation." Journal of Neuroimmunology 83(1-2):57-62.

Madsen, C. S., Ghivizzani, S. C. and Hauswirth, W. W. (1993). "Protein binding to a single termination-associated sequence in the mitochondrial DNA D-loop region." Molecular and Cellular Biology 13(4):2162-2171.

Magnani, M., Fraternale, A., Casabianca, A., Schiavano, G. F., Chiarantini, L., Palamara, A. T., Ciriolo, M. R., Rotilio, G. and Garaci, E. (1997). "Antiretroviral effect of combined zidovudine and reduced glutathione therapy in murine AIDS." AIDS Research and Human Retroviruses 13(13):1093-1099.

Mahapatra, R. K., Mahapatra, D. and Yaden, S. (1987). "Clinical experience with a transdermal nitroglycerin system." Angiology 38(4):277-286.

Majamaa, K., Moilanen, J. S., Uimonen, S., Remes, A. M., Salmela, P. I., Karppa, M., Majamaa-Voltti, K. A., Rusanen, H., Sorri, M., Peuhkurinen, K. J. and Hassinen, I. E. (1998). "Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population." American Journal of Human Genetics 63(2):447-454.

Majamaa, K., Rusanen, H., Remes, A. and Hassinen, I. E. (1997). "Metabolic interventions against complex I deficiency in MELAS syndrome." Molecular & Cellular Biochemistry 174(1-2):291-296.

Majamaa, K., Turkka, J., Karppa, M., Winqvist, S. and Hassinen, I. E. (1997). "The common MELAS mutation A3243G in mitochondrial DNA among young patients with an occipital brain infarct." Neurology 49(5):1331-1334.

Majander, A., Finel, M., Savontaus, M. L., Nikoskelainen, E. and Wikstrom, M. (1996). "Catalytic activity of complex I in cell lines that possess replacement mutations in the ND genes in Leber's hereditary optic neuropathy." European Journal of Biochemistry 239(1):201-207.

Majander, A., Huoponen, K., Savontaus, M. L., Nikoskelainen, E. and Wikstrom, M. (1991). "Electron transfer properties of NADH:ubiquinone reductase in the ND1/3460 and the ND4/11778 mutations of the Leber hereditary optic neuroretinopathy (LHON)." FEBS Letters 292(1-2):289-292.

Majander, A., Lamminen, T., Juvonen, V., Aula, P., Nikoskelainen, E., Savontaus, M. L. and Wikstrom, M. (1997). "Mutations in subunit 6 of the F1F0-ATP synthase cause two entirely different diseases." FEBS Letters 412(2):351-354.

Majumder, P. P., Roy, B., Banerjee, S., Chakraborty, M., Dey, B., Mukherjee, N., Roy, M., Thakurta, P. G. and Sil, S. K. (1999). "Human-specific insertion/deletion polymorphisms in Indian populations and their possible evolutionary implications." European Journal of Human Genetics 7(4):435-446.

Mak, S. C., Chi, C. S. and Tsai, C. R. (1998). "Mitochondrial DNA 8993 T > C mutation presenting as juvenile Leigh syndrome with respiratory failure." Journal of Child Neurology 13(7):349-351.

Makela-Bengs, P., Suomalainen, A., Majander, A., Rapola, J., Kalimo, H., Nuutila, A. and Pihko, H. (1995). "Correlation between the clinical symptoms and the proportion of mitochondrial DNA carrying the 8993 point mutation in the NARP syndrome." Pediatric Research 37(5):634-639.

Makino, M., Horai, S., Goto, Y. and Nonaka, I. (1998). "Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome." Neuromuscular Disorders 8(3-4):149-151.

Makman, M. H., Dobrenis, K. and Surratt, C. K. (1998). "Properties of mu 3 opiate alkaloid receptors in macrophages, astrocytes, and HL-60 human promyelocytic leukemia cells." Advances in Experimental Medicine and Biology 437:137-148.

Malaisse, W. J. (1994). "The beta cell in NIDDM: giving light to the blind." Diabetologia 37:S36-42.

Malaisse-Lagae, F. and Malaisse, W. J. (1988). "Hexose metabolism in pancreatic islets: regulation of mitochondrial hexokinase binding." Biochemical Medicine and Metabolic Biology 39(1):80-89.

Malcovati, M., Marchetti, T., Zanelli, T. and Tenchini, M. L., Eds. (1991). Flavins and Flavoproteins 1990. Flavins and Flavoproteins 1990. Berlin, Walter de Gruyter & Co.

Malgat, M., Letellier, T., Jouaville, S. L. and Mazat, J. P. (1995). "Value of control theory in the study of cellular metabolism -- biomedical implications." Journal of Biological Systems 3(1):165-175.

Malhi, R. S., Eshleman, J. A., Greenberg, J. A., Weiss, D. A., Schultz Shook, B. A., Kaestle, F. A., Lorenz, J. G., Kemp, B. M., Johnson, J. R. and Smith, D. G. (2002). "The structure of diversity within New World mitochondrial DNA haplogroups: implications for the prehistory of North America." American Journal of Human Genetics 70(4):905-919.

Malyarchuk, B. A. (1997). "[Distribution of mitochondrial DNA markers in the European populations of Eurasia]." Genetika 33(7):986-991.

Malyarchuk, B. A. (1997). "[A mitochondrial portrait of Eastern Slavs]." Genetika 33(1):101-105.

Malyarchuk, B. A. (1997). "[The origin of caucasoid BamHI-3/MspI-4 mitochondrial DNA marker]." Genetika 33(12):1669-1674.

Malyarchuk, B. A. (1997). "[Similarity of geographic distribution of frequencies of p(c) allele of erythrocyte acid phosphatase and BamHI-3/MspI-4 types of mitochondrial DNA in Caucasoid human populations]." Genetika 33(3):393-398.

Malyarchuk, B. A., Grzybowski, T., Derenko, M. V., Czarny, J., Drobnic, K. and Miscicka-Sliwka, D. (2003). "Mitochondrial DNA variability in Bosnians and Slovenians." Annals of Human Genetics 67(5):412-425.

Malyarchuk, B. A., Grzybowski, T., Derenko, M. V., Czarny, J., Wozniak, M. and Miscicka-Sliwka, D. (2002). "Mitochondrial DNA variability in Poles and Russians." Annals of Human Genetics 66(4):261-283.

Man, P. Y., Griffiths, P. G., Brown, D. T., Howell, N., Turnbull, D. M. and Chinnery, P. F. (2003). "The epidemiology of Leber hereditary optic neuropathy in the North East of England." American Journal of Human Genetics 72(2):333-339.

Man, P. Y., Morris, C. M., Zeviani, M., Carrara, F., Turnbull, D. M. and Chinnery, P. F. (2003). "The role of APOE in the phenotypic expression of Leber hereditary optic neuropathy." Journal of Medical Genetics 40(4):e41.

Man, P. Y., Turnbull, D. M. and Chinnery, P. F. (2002). "Leber hereditary optic neuropathy." Journal of Medical Genetics 39(3):162-169.

Mancini, M., Nicholson, D. W., Roy, S., Thornberry, N. A., Peterson, E. P., Casciola-Rosen, L. A. and Rosen, A. (1998). "The caspase-3 precursor has a cytosolic and mitochondrial distribution: implications for apoptotic signaling." Journal of Cell Biology 140(6):1485-1495.

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Mandavilli, B. S., Santos, J. H. and Van Houten, B. (2002). "Mitochondrial DNA repair and aging." Mutation Research 509(1-2):127-151.

Manfredi, G., Bonilla, E., Schon, E. A., DiMauro, S. and Moraes, C. (1994). "A mitochondrial DNA missense mutation in the cytochrome oxidase subunit III gene associated with a progressive encephalopathy." Miami Short Reports 4:17.

Manfredi, G., Fu, J., Ojaimi, J., Sadlock, J. E., Kwong, J. Q., Guy, J. and Schon, E. A. (2002). "Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus." Nature Genetics 30(4):394-399.

Manfredi, G., Gupta, N., Vazquez-Memije, M. E., Sadlock, J. E., Spinazzola, A., De Vivo, D. C. and Schon, E. A. (1999). "Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene." Journal of Biological Chemistry 274(14):9386-9391.

Manfredi, G., Schon, E. A., Bonilla, E., Moraes, C. T., Shanske, S. and DiMauro, S. (1996). "Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy." Human Mutation 7(2):158-163.

Manfredi, G., Schon, E. A., Moraes, C. T., Bonilla, E., Berry, G. T., Sladky, J. T. and DiMauro, S. (1995). "A new mutation associated with MELAS is located in a mitochondrial DNA polipeptide-coding gene." Neuromuscular Disorders 5(5):391-398.

Manfredi, G., Servidei, S., Bonilla, E., Shanske, S., Schon, E. A., DiMauro, S. and Moraes, C. T. (1995). "High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy." Neurology 45(4):762-768.

Manfredi, G., Thyagarajan, D., Papadopoulou, L. C., Pallotti, F. and Schon, E. A. (1997). "The fate of human sperm-derived mtDNA in somatic cells." American Journal of Human Genetics 61(4):953-960.

Manfredi, G., Vu, T., Bonilla, E., Schon, E. A., DiMauro, S., Arnaudo, E., Zhang, L., Rowland, L. P. and Hirano, M. (1997). "Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?" Annals of Neurology 42(2):180-188.

Mann, V. M., Cooper, J. M., Krige, D., Daniel, S. E., Schapira, A. H. and Marsden, C. D. (1992). "Brain, skeletal muscle and platelet homogenate mitochondrial function in Parkinson's disease." Brain 115(Pt 2):333-342.

Mann, V. M., Cooper, J. M. and Schapira, A. H. V. (1992). "Quantitation of a mitochondrial DNA deletion in Parkinson's disease." FEBS Letters 299(3):218-222.

Manouvrier, S., Rotig, A., Hannebique, G., Gheerbrandt, J. D., Royer-Legrain, G., Munnich, A., Parent, M., Grunfeld, J. P., Largilliere, C., Lombes, A. and Bonnefont, J. P. (1995). "Point mutation of the mitochondrial tRNALeu gene (A 3243 G) in maternally inherited hypertrophic cardiomyopathy, diabetes mellitus, renal failure, and sensorineural deafness." Journal of Medical Genetics 32(8):654-656.

Mansergh, F. C., Millington-Ward, S., Kennan, A., Kiang, A. S., Humphries, M., Farrar, G. J., Humphries, P. and Kenna, P. F. (1999). "Retinitis pigmentosa and progressive sensorineural hearing loss caused by a C12258A mutation in the mitochondrial MTTS2 gene." American Journal of Human Genetics 64(4):971-985.

Mansouri, A., Fromenty, B., Berson, A., Robin, M. A., Grimbert, S., Beaugrand, M., Erlinger, S. and Pessayre, D. (1997). "Multiple hepatic mitochondrial DNA deletions suggest premature oxidative aging in alcoholic patients." Journal of Hepatology 27(1):96-102.

Mansouri, A., Gaou, I., Fromenty, B., Berson, A., Letteron, P., Degott, C., Erlinger, S. and Pessayre, D. (1997). "Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease." Gastroenterology 113(2):599-605.

Mao, M., Fu, G., Wu, J. S., Zhang, Q. H., Zhou, J., Kan, L. X., Huang, Q. H., He, K. L., Gu, B. W., Han, Z. G., Shen, Y., Gu, J., Yu, Y. P., Xu, S. H., Wang, Y. X., Chen, S. J. and Chen, Z. (1998). "Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full- length cDNA cloning." Proceedings of the National Academy of Sciences of the United States of America 95(14):8175-8180.

Marangos, P. J., Patel, J., Boulenger, J. P. and Clark-Rosenberg, R. (1982). "Characterization of peripheral-type benzodiazepine binding sites in brain using [3H]Ro 5-4864." Molecular Pharmacology 22(1):26-32.

Marchington, D. R., Hartshorne, G. M., Barlow, D. and Poulton, J. (1997). "Homopolymeric tract heteroplasmy in mtDNA from tissues and single oocytes: support for a genetic bottleneck." American Journal of Human Genetics 60(2):408-416.

Marchington, D. R., Macaulay, V., Hartshorne, G. M., Barlow, D. and Poulton, J. (1998). "Evidence from human oocytes for a genetic bottleneck in an mtDNA disease." American Journal of Human Genetics 63(3):769-775.

Marin-Garcia, J., Ananthakrishnan, R. and Goldenthal, M. J. (1995). "Heart mitochondria response to alcohol is different than brain and liver." Alcoholism: Clinical and Experimental Research 19(6):1463-1466.

Marin-Garcia, J., Ananthakrishnan, R. and Goldenthal, M. J. (1996). "Mitochondrial dysfunction after fetal alcohol exposure." Alcoholism: Clinical and Experimental Research 20(6):1029-1032.

Marin-Garcia, J., Ananthakrishnan, R., Goldenthal, M. J., Filiano, J. J. and Perez-Atayde, A. (1997). "Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy." Journal of Inherited Metabolic Disease 20(5):674-680.

Marin-Garcia, J. and Goldenthal, M. J. (1997). "Mitochondrial cardiomyopathy: molecular and biochemical analysis." Pediatric Cardiology 18(4):251-260.

Marin-Garcia, J., Goldenthal, M. J., Flores-Sarnat, L. and Sarnat, H. B. (2002). "Severe mitochondrial cytopathy with complete A-V block, PEO, and mtDNA deletions." Pediatric Neurology 27(3):213-216.

Mariotti, C., Savarese, N., Suomalainen, A., Rimoldi, M., Comi, G., Prelle, A., Antozzi, C., Servidei, S., Jarre, L., DiDonato, S. and Zeviani, M. (1995). "Genotype to phenotype correlations in mitochondrial encephalomyopathies associated with the A3243G mutation of mitochondrial DNA." Journal of Neurology 242(5):304-312.

Mariotti, C., Tiranti, V., Carrara, F., Dallapiccola, B., DiDonato, S. and Zeviani, M. (1994). "Defective respiratory capacity and mitochondrial protein synthesis in transformant cybrids harboring the tRNALeu(UUR) mutation associated with maternally inherited myopathy and cardiomyopathy." Journal of Clinical Investigation 93(3):1102-1107.

Mariottini, P., Chomyn, A., Attardi, G., Trovato, D., Strong, D. D. and Doolittle, R. F. (1983). "Antibodies against synthetic peptides reveal that the unidentified reading frame A6L, overlapping the ATPase 6 gene, is expressed in human mitochondria." Cell 32(4):1269-1277.

Markel, P., Shu, P., Ebeling, C., Carlson, G. A., Nagle, D. L., Smutko, J. S. and Moore, K. J. (1997). "Theoretical and empirical issues for marker-assisted breeding of congenic mouse strains [see comments]." Nature Genetics 17(3):280-284.

Martin, W. R., Clark, C., Ammann, W., Stoessl, A. J., Shtybel, W. and Hayden, M. R. (1992). "Cortical glucose metabolism in Huntington's disease." Neurology 42(1):223-229.

Martin-Negrier, M. L., Coquet, M., Moretto, B. T., Lacut, J. Y., Dupon, M., Bloch, B., Lestienne, P. and Vital, C. (1998). "Partial triplication of mtDNA in maternally transmitted diabetes mellitus and deafness." American Journal of Human Genetics 63(4):1227-1232.

Marzo, I., Brenner, C., Zamzami, N., Jurgensmeier, J. M., Susin, S. A., Vieira, H. L., Prevost, M. C., Xie, Z., Matsuyama, S., Reed, J. C. and Kroemer, G. (1998). "Bax and adenine nucleotide translocator cooperate in the mitochondrial control of apoptosis." Science 281(5385):2027-2031.

Marzuki, S., Berkovic, S. F., Saifuddin Noer, A., Kapsa, R. M., Kalnins, R. M., Byrne, E., Sasmono, T. and Sudoyo, H. (1997). "Developmental genetics of deleted mtDNA in mitochondrial oculomyopathy." Journal of the Neurological Sciences 145(2):155-162.

Marzuki, S., Lertrit, P., Noer, A. S., Kapsa, R. M. I., Sudoyo, H., Byrne, E. and Thyagarajan, D. (1992). "Reply to Howell etal.: The need for a joint effort in the construction of a reference data base for normal sequence variants of human mtDNA." American Journal of Human Genetics 50(6):1337-1340.

Marzuki, S., Noer, A. S., Letrit, P., Thyagarajan, D., Kapsa, R., Utthanaphol, P. and Byrne, E. (1991). "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base." Human Genetics 88(2):139-145.

Mashima, Y., Hiida, Y., Kubota, R., Oguchi, Y., Kudoh, J. and Shimizu, N. (1994). "DNA diagnosis of Leber's hereditary optic neuropathy by using dried blood specimens [letter]." American Journal of Ophthalmology 116(6):773-774.

Mashima, Y., Hiida, Y. and Oguchi, Y. (1992). "Remission of Leber's hereditary optic neuropathy with idebenone [letter]." Lancet 340(8815):368-369.

Mashima, Y., Hiida, Y., Oguchi, Y., Kudoh, J. and Shimizu, N. (1993). "High frequency of mutations at position 11778 in mitochondrial ND4 gene in Japanese families with Leber's hereditary optic neuropathy." Human Genetics 92(1):101-102.

Mashima, Y., Hiida, Y., Saga, M., Oguchi, Y., Kudoh, J. and Shimizu, N. (1995). "Risk of false-positive molecular genetic diagnosis of Leber's hereditary optic neuropathy." American Journal of Ophthalmology 119(2):245-246.

Mashima, Y., Saga, M., Hiida, Y., Oguchi, Y., Wakakura, M., Kudoh, J. and Shimizu, N. (1995). "Quantitative determination of heteroplasmy in Leber's hereditary optic neuropathy by single-strand conformation polymorphism." Investigative Ophthalmology and Visual Science 36(8):1714-1720.

Mashima, Y., Yamada, K., Wakakura, M., Kigasawa, K., Kudoh, J., Shimizu, N. and Oguchi, Y. (1998). "Spectrum of pathogenic mitochondrial DNA mutations and clinical features in Japanese families with Leber's hereditary optic neuropathy." Current Eye Research 17(4):403-408.

Masoro, E. J. (1993). "Dietary restriction and aging." Journal of the American Geriatrics Society 41(9):994-999.

Masoro, E. J., McCarter, R. J., Katz, M. S. and McMahan, C. A. (1992). "Dietary restriction alters characteristics of glucose fuel use (published erratum appears in J Gerontol 1993 Mar;48(2):B73)." Journal of Gerontology 47(6):B202-B208.

Massin, P., Guillausseau, P. J., Vialettes, B., Paquis, V., Orsini, F., Grimaldi, A. D. and Gaudric, A. (1995). "Macular pattern dystrophy associated with a mutation of mitochondrial DNA." American Journal of Ophthalmology 120(2):247-248.

Massotti, M., Mele, L. and De Luca, C. (1990). "Involvement of the "peripheral" benzodiazepine receptor type (omega 3) in the tolerance to the electroencephalographic effects of benzodiazepines in rats: comparison of diazepam and clonazepam." Pharmacology Biochemsitry and Behavior 35(4):933-936.

Masucci, J. P., Davidson, M., Koga, Y., Schon, E. A. and King, M. P. (1995). "In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNALysgene: two genotypes produce similar phenotypes." Molecular and Cellular Biology 15(5):2872-2881.

Masucci, J. P., Schon, E. A. and King, M. P. (1997). "Point mutations in the mitochondrial tRNA(Lys) gene: implications for pathogenesis and mechanism." Molecular & Cellular Biochemistry 174(1-2):215-219.

Mather, M. W. and Rottenberg, H. (1998). "Intrinsic uncoupling of cytochrome c oxidase may cause the maternally inherited mitochondrial diseases MELAS and LHON." FEBS Letters 433(1-2):93-97.

Mathews, C. E. and Berdanier, C. D. (1998). "Noninsulin-dependent diabetes mellitus as a mitochondrial genomic disease." Proceedings of the Society for Experimental Biology & Medicine 219(2):97-108.

Matouk, C., Gosselin, D., Malo, D., Skamene, E. and Radzioch, D. (1996). "PCR-analyzed microsatellites for the inbred mouse strain 129/Sv, the strain most commonly used in gene knockout technology." Mammalian Genome 7(8):603-605.

Matsuda, C., Endo, H., Ohta, S. and Kagawa, Y. (1993). "Gene structure of human mitochondrial ATP synthase gamma-subunit. Tissue specificity produced by alternative RNA splicing." Journal of Biological Chemistry 268(33):24950-24958.

Matsumoto, M., Hayasaka, S., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S. and Kanai, A. (1998). "Mitochondrial DNA mutations in Japanese patients with optic neuropathy unassociated with a mutation at nucleotide position 11,778." Journal of Human Genetics 43(4):242-245.

Matsumoto, M., Hayasaka, S., Kadoi, C., Hotta, Y., Fujiki, K., Fujimaki, T., Takeda, M., Ishida, N., Endo, S. and Kanai, A. (1999). "Secondary mutations of mitochondrial DNA in Japanese patients with Leber's hereditary optic neuropathy." Ophthalmic Genetics 20(3):153-160.

Matsuya, Y. and Yamane, I. (1985). "Cell fusion and cell agglutination: enhancing effect by a combined use of lectin and polycation." Somatic Cell & Molecular Genetics 11(3):247-255.

Matthews, D. E., Hessler, R. A., Denslow, N. D., Edwards, J. S. and O'Brien, T. W. (1982). "Protein composition of the bovine mitochondrial ribosome." Journal of Biological Chemistry 257(15):8788-8794.

Matthews, P. M., Brown, R. M., Morten, K., Marchington, D., Poulton, J. and Brown, G. (1995). "Intracellular heteroplasmy for disease-associated point mutations in mtDNA: implications for disease expression and evidence for mitotic segregation of heteroplasmic units of mtDNA." Human Genetics 96(3):261-268.

Matthews, P. M., Ford, B., Dandurand, R. J., Eidelman, D. H., O'Connor, D., Sherwin, A., Karpati, G., Andermann, F. and Arnold, D. L. (1993). "Coenzyme Q10 with multiple vitamins is generally ineffective in treatment of mitochondrial disease." Neurology 43(5):884-890.

Matthews, P. M., Hopkin, J., Brown, R. M., Stephenson, J. B., Hilton-Jones, D. and Brown, G. K. (1994). "Comparison of the relative levels of the 3243 (A-G) mtDNA mutation in heteroplasmic adult and fetal tissues." Journal of Medical Genetics 31(1):41-44.

Matthews, P. M., Marchington, D. R., Squier, M., Land, J., Brown, R. M. and Brown, G. K. (1993). "Molecular genetic characterization of an X-linked form of Leigh's syndrome." Annals of Neurology 33(6):652-655.

Matthijs, G., Claes, S., Longo-Mbenza, B. and Cassiman, J. J. (1994). "Teenage onset non-syndromic deafness associated with a mutation and a polymorphism in the mitochondrial 12S ribosomal RNA gene in a large Zairese pedigree." American Journal of Human Genetics 55:A23 (abstract).

Mattson, M. P. (1995). "Free radicals and disruption of neuronal ion homeostasis in AD: a role for amyloid beta-peptide?" Neurobiology of Aging 16(4):679-682.

Mattson, M. P. (1997). "Mother's legacy: mitochondrial DNA mutations and Alzheimer's disease." Trends in Neurosciences 20(9):373-375.

Maximo, V., Sores, P., Rocha, A. S. and Sobrinho-Simoes, M. (1998). "The common deletion of mitochondrial DNA is found in goiters and thyroid tumors with and without oxyphil cell change [letter]." Ultrastructural Pathology 22(3):271-273.

Mayr-Wohlfart, U., Rodel, G. and Henneberg, A. (1997). "Mitochondrial tRNA(Gln) and tRNA(Thr) gene variants in Parkinson's disease." European Journal of Medical Research 2(3):111-113.

Mazat, J. P., Letellier, T., Malgat, M., Rossignol, R., Korzeniewski, B., Demaugre, F. and Leroux, J. P. (1998). "Inborn errors of metabolism in the light of metabolic control analysis." Biochemical Society Transactions 26(2):141-145.

Mazziotta, M. R., Ricci, E., Bertini, E., Vici, C. D., Servidei, S., Burlina, A. B., Sabetta, G., Bartuli, A., Manfredi, G., Silvestri, G., Moraes, C. T. and DiMauro, S. (1992). "Fatal infantile liver failure associated with mitochondrial DNA depletion." Journal of Pediatrics 121(6):896-901.

McBride, H. M., Goping, I. S. and Shore, G. C. (1996). "The human mitochondrial import receptor, hTom20p, prevents a cryptic matrix targeting sequence from gaining access to the protein translocation machinery." Journal of Cell Biology 134(2):307-313.

McCabe, E. R. (1994). "Microcompartmentation of energy metabolism at the outer mitochondrial membrane: role in diabetes mellitus and other diseases." Journal of Bioenergetics and Biomembranes 26(3):317-325.

McCabe, R. T., Schoenheimer, J. A., Skolnick, P., Newman, A. H., Rice, K. C., Reig, J. A. and Klein, D. C. (1989). "[3H]AHN 086 acylates peripheral benzodiazepine receptors in the rat pineal gland." FEBS Letters 244(2):263-267.

McCarter, R. J. and Palmer, J. (1992). "Energy metabolism and aging: a lifelong study of Fischer 344 rats." American Journal of Physiology 263(3 Pt 1):E448-E452.

McEnery, M. W., Snowman, A. M., Trifiletti, R. R. and Snyder, S. H. (1992). "Isolation of the mitochondrial benzodiazepine receptor: association with the voltage-dependent anion channel and the adenine nucleotide carrier." Proceedings of the National Academy of Sciences of the United States of America 89(8):3170-3174.

McFarland, R., Taylor, R. W. and Turnbull, D. M. (2002). "The neurology of mitochondrial DNA disease." Lancet. Neurology 1(6):343-351.

McKelvie, P. A., Morley, J. B., Byrne, E. and Marzuki, S. (1991). "Mitochondrial encephalomyopathies: a correlation between neuropathological findings and defects in mitochondrial DNA." Journal of the Neurological Sciences 102(1):51-60.

McKusick, V. (1999). Online Mendelian Inheritance in Man, OMIM(TM), Center for Medical Genetics, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD.).

McKusick, V. A. and Antonarakis, S. E. (1998). Mendelian Inheritance in Man: A Catalog of Human Genes and Genetic Disorders. Baltimore, Johns Hopkins University Press.

McMahon, F. J., Stine, O. C., Meyers, D. A., Simpson, S. G. and DePaulo, J. R. (1995). "Patterns of maternal transmission in bipolar affective disorder." American Journal of Human Genetics 56(6):1277-1286.

McShane, M. A., Hammans, M., Sweeney, I., Holt, I. J., Beattie, T. J., Brett, E. M. and Harding, A. E. (1991). "Pearson Syndrome and mitochondrial encephalomyopathy in patient with a deletion of mtDNA." American Journal of Human Genetics 48(1):39-42.

Mecocci, P., Beal, M. F., Cecchetti, R., Polidori, M. C., Cherubini, A., Chionne, F., Avellini, L., Romano, G. and Senin, U. (1997). "Mitochondrial membrane fluidity and oxidative damage to mitochondrial DNA in aged and AD human brain." Molecular & Chemical Neuropathology 31(1):53-64.

Mecocci, P., MacGarvey, U. and Beal, M. F. (1994). "Oxidative damage to mitochondrial DNA is increased in Alzheimer's disease." Annals of Neurology 36(5):747-751.

Mecocci, P., MacGarvey, U., Kaufman, A. E., Koontz, D., Shoffner, J. M., Wallace, D. C. and Beal, M. F. (1993). "Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain." Annals of Neurology 34(4):609-616.

Meera Khan, P., Wijnen, L. M. and Pearson, P. L. (1978). "Assignment of the mitochondrial aconitase gene (ACONM) to human chromosome 22." Cytogenetics and Cell Genetics 22(1-6):212-214.

Mehta, A. B., Vulliamy, T., Gordon-Smith, E. C. and Luzzatto, L. (1989). "A new genetic polymorphism in the 16S ribosomal RNA gene of human mitochondrial DNA." Annals of Human Genetics 53(Pt 4):303-310.

Meijerink, J. P., Mensink, E. J., Wang, K., Sedlak, T. W., Sloetjes, A. W., de Witte, T., Waksman, G. and Korsmeyer, S. J. (1998). "Hematopoietic malignancies demonstrate loss-of-function mutations of BAX." Blood 91(8):2991-2997.

Meinila, M., Finnila, S. and Majamaa, K. (2001). "Evidence for mtDNA admixture between the Finns and the Saami." Human Heredity 52(3):160-170.

Meirelles, F. V. and Smith, L. C. (1997). "Mitochondrial genotype segregation in a mouse heteroplasmic lineage produced by embryonic karyoplast transplantation." Genetics 145(2):445-451.

Meirelles, F. V. and Smith, L. C. (1998). "Mitochondrial genotype segregation during preimplantation development in mouse heteroplasmic embryos." Genetics 148(2):877-883.

Meissner, C. and von Wurmb, N. (1998). "Sensitive detection of the 4977-bp deletion in human mitochondrial DNA of young individuals." Biotechniques 25(4):652-654.

Meissner, C., von Wurmb, N. and Oehmichen, M. (1997). "Detection of the age-dependent 4977 bp deletion of mitochondrial DNA. A pilot study." International Journal of Legal Medicine 110(5):288-291.

Melberg, A., Holme, E., Oldfors, A. and Lundberg, P. O. (1998). "Rhabdomyolysis in autosomal dominant progressive external ophthalmoplegia." Neurology 50(1):299-300.

Melegh, B., Bock, I., Gati, I. and Mehes, K. (1996). "Multiple mitochondrial DNA deletions and persistent hyperthermia in a patient with Brachmann-de Lange phenotype." American Journal of Medical Genetics 65(1):82-88.

Melov, S., Coskun, E. P. and Wallace, D. C. (1999). "Mouse models of mitochondrial disease, oxidative stress, and senescence." Mutation Research 434(3):233-242.

Melov, S., Coskun, P., Patel, M., Tunistra, R., Cottrell, B., Jun, A. S., Zastawny, T. H., Dizdaroglu, M., Goodman, S. I., Huang, T., Miziorko, H., Epstein, C. J. and Wallace, D. C. (1999). "Mitochondrial disease in superoxide dismutase 2 mutant mice." Proceedings of the National Academy of Sciences of the United States of America 96(3):846-851.

Melov, S., Hinerfeld, D., Esposito, L. and Wallace, D. C. (1997). "Multi-organ characterization of mitochondrial genomic rearrangements in ad libitum and caloric restricted mice show striking somatic mitochondrial DNA rearrangements with age." Nucleic Acids Research 25(5):974-982.

Melov, S., Schneider, J. A., Coskun, P. E., Bennett, D. A. and Wallace, D. C. (1999). "Mitochondrial DNA rearrangements in aging human brain and in situ PCR of mtDNA." Neurobiology of Aging 20(5):565-571.

Melov, S., Schneider, J. A., Day, B. J., Hinerfeld, D., Coskun, P., Mirra, S. S., Crapo, J. D. and Wallace, D. C. (1998). "A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase [see comments]." Nature Genetics 18(2):159-163.

Melov, S., Shoffner, J. M., Kaufman, A. and Wallace, D. C. (1995). "Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle [published erratum appears in Nucleic Acids Res 1995 Dec 11;23(23):4938]." Nucleic Acids Research 23(20):4122-4126.

Melton, T., Clifford, S., Martinson, J., Batzer, M. and Stoneking, M. (1998). "Genetic evidence for the proto-Austronesian homeland in Asia: mtDNA and nuclear DNA variation in Taiwanese aboriginal tribes." American Journal of Human Genetics 63(6):1807-1823.

Melton, T., Peterson, R., Redd, A. J., Saha, N., Sofro, A. S., Martinson, J. and Stoneking, M. (1995). "Polynesian genetic affinities with Southeast Asian populations as identified by mtDNA analysis." American Journal of Human Genetics 57(2):403-414.

Menzies, R. A. and Gold, P. H. (1971). "The turnover of mitochondria in a variety of tissues of young adult and aged rats." Journal of Biological Chemistry 246(8):2425-2429.

Merante, F., Tein, I., Benson, L. and Robinson, B. H. (1994). "Maternally inherited hypertrophic cardiomyopathy due to a novel T-to-C transition at nucleotide 9997 in the mitochondrial tRNA(glycine) gene." American Journal of Human Genetics 55(3):437-446.

Merelli, E., Selleri, L., Ferrari, S., Sola, P., Colombo, A. and Torelli, G. (1991). "Mitochondrial DNA deletion in oculoskeletal myopathy." European Neurology 31(3):160-163.

Merriwether, D. A., Clark, A. G., Ballinger, S. W., Schurr, T. G., Soodyall, H., Jenkins, T., Sherry, S. T. and Wallace, D. C. (1991). "The structure of human mitochondrial DNA variation." Journal of Molecular Evolution 33(6):543-555.

Merriwether, D. A., Ferrell, R. E. and Rothhammer, F. (1995). "mtDNA D-loop 6-bp deletion found in the Chilean aymara: not a unique marker for Chibcha-speaking amerindians [letter]." American Journal of Human Genetics 56(3):812-813.

Merriwether, D. A., Hall, W. W., Vahlne, A. and Ferrell, R. E. (1996). "mtDNA variation indicates Mongolia may have been the source for the founding population for the New World." American Journal of Human Genetics 59(1):204-212.

Merriwether, D. A., Huston, S., Iyengar, S., Hamman, R., Norris, J. M., Shetterly, S. M., Kamboh, M. I. and Ferrell, R. E. (1997). "Mitochondrial versus nuclear admixture estimates demonstrate a past history of directional mating." American Journal of Physical Anthropology 102(2):153-159.

Messina, A., Oliva, M., Rosato, C., Huizing, M., Ruitenbeek, W., van den Heuvel, L. P., Forte, M., Rocchi, M. and De Pinto, V. (1999). "Mapping of the human Voltage-Dependent Anion Channel isoforms 1 and 2 reconsidered." Biochemical & Biophysical Research Communications 255(3):707-710.

Mestre, M., Carriot, T., Belin, C., Uzan, A., Renault, C., Dubroeucq, M. C., Gueremy, C. and Le Fur, G. (1984). "Electrophysiological and pharmacological characterization of peripheral benzodiazepine receptors in a guinea pig heart preparation." Life Sciences 35(9):953-962.

Michaels, G. S., Hauswirth, W. W. and Laipis, P. J. (1982). "Mitochondrial DNA copy number in bovine oocytes and somatic cells." Developmental Biology 94(1):246-251.

Michikawa, Y., Hofhaus, G., Lerman, L. S. and Attardi, G. (1997). "Comprehensive, rapid and sensitive detection of sequence variants of human mitochondrial tRNA genes." Nucleic Acids Research 25(12):2455-2463.

Michikawa, Y., Mazzucchelli, F., Bresolin, N., Scarlato, G. and Attardi, G. (1999). "Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication." Science 286(5440):774-779.

Mickelson, J. R., Greaser, M. L. and Marsh, B. B. (1980). "Purification of skeletal-muscle mitochondria by density-gradient centrifugation with Percoll." Analytical Biochemistry 109(2):255-260.

Mielot, F., Bader-Meunier, B., Tchernia, G. and Dommergues, J. P. (1997). "[Myelodysplasia in children and mitochondrial cytopathies]." Pathologie Biologie 45(7):594-599.

Mihm, S., Ennen, J., Pessara, U., Kurth, R. and Droge, W. (1991). "Inhibition of HIV-1 replication and NF-kappa B activity by cysteine and cysteine derivatives." AIDS 5(5):497-503.

Milatovich, A., Parisi, M. A., Poulton, J., Clayton, D. A. and Francke, U. (1991). "Sequences homologous to MTTF1, mitochondrial transcription factor 1, are located on human chromosomes 7 (7pter-cen), 10, and 11 (11cen-qter)." Cytogenetics and Cell Genetics 58:1929.

Miller, A. D. and Rosman, G. J. (1996). "Improved retroviral vectors for gene transfer and expression." Nature Biotechnology 14:3.

Miller, K. E. and Joshi, H. C. (1996). "Tubulin transport in neurons." Journal of Cell Biology 133(6):1355-1366.

Miller, K. W., Dawson, J. L. and Hagelberg, E. (1996). "A concordance of nucleotide substitutions in the first and second hypervariable segments of the human mtDNA control region." International Journal of Legal Medicine 109(3):107-113.

Miller, L. G., Galpern, W. R., Byrnes, J. J., Greenblatt, D. J. and Shader, R. I. (1992). "Chronic benzodiazepine administration. X. Concurrent administration of the peripheral-type benzodiazepine ligand PK11195 attenuates chronic effects of lorazepam." Journal of Pharmacology and Experimental Therapeutics 261(1):285-289.

Miller, L. G., Greenblatt, D. J., Barnhill, J. G. and Shader, R. I. (1988). "Chronic benzodiazepine administration. I. Tolerance is associated with benzodiazepine receptor downregulation and decreased gamma-aminobutyric acidA receptor function." Journal of Pharmacology and Experimental Therapeutics 246(1):170-176.

Miller, L. G., Greenblatt, D. J., Roy, R. B., Summer, W. R. and Shader, R. I. (1988). "Chronic benzodiazepine administration. II. Discontinuation syndrome is associated with upregulation of gamma-aminobutyric acidA receptor complex binding and function." Journal of Pharmacology and Experimental Therapeutics 246(1):177-182.

Mills, K. A., Ellison, J. W. and Mathews, K. D. (1996). "The Ant1 gene maps near Klk3 on proximal mouse chromosome 8." Mammalian Genome 7(9):707.

Milner, C. M. and Campbell, R. D. (1990). "Structure and expression of the three MHC-linked HSP70 genes." Immunogenetics 32(4):242-251.

Mimaki, M., Ikota, A., Sato, A., Komaki, H., Akanuma, J., Nonaka, I. and Goto, Y. (2003). "A double mutation (G11778A and G12192A) in mitochondrial DNA associated with Leber's hereditary optic neuropathy and cardiomyopathy." Journal of Human Genetics 48(1):47-50.

Mindell, D. P., Sorenson, M. D. and Dimcheff, D. E. (1998). "An extra nucleotide is not translated in mitochondrial ND3 of some birds and turtles." Molecular Biology and Evolution 15:1568-1571.

Mindell, D. P., Sorenson, M. D. and Dimcheff, D. E. (1998). "Multiple independent origins of mitochondrial gene order in birds." Proceedings of the National Academy of Sciences of the United States of America 95(18):10693-10697.

Minshu, Y., Xinfang, Q., Jinglun, X., Zudong, L., Jiazhen, T., Houjun, L., Dexiang, L., Li, L., Wuzhong, Y., Xianzhen, T. and Meirong, Z. (1988). "Mitochondrial DNA polymorphism in Chinese." Scientia Sinica 31:860-872.

Miquel, J. (1998). "An update on the oxygen stress-mitochondrial mutation theory of aging: genetic and evolutionary implications." Experimental Gerontology 33(1-2):113-126.

Miquel, J., Economos, A. C., Fleming, J. and Johnson, J. E., Jr. (1980). "Mitochondrial role in cell aging." Experimental Gerontology 15(6):575-591.

Miquel, J. F., Covarrubias, C., Villaroel, L., Mingrone, G., Greco, A. V., Puglielli, L., Carvallo, P., Marshall, G., Del Pino, G. and Nervi, F. (1998). "Genetic epidemiology of cholesterol cholelithiasis among Chilean Hispanics, Amerindians, and Maoris [see comments]." Gastroenterology 115(4):937-946.

Miranda, A. F., Ishii, S., DiMauro, S. and Shay, J. W. (1989). "Cytochrome c oxidase deficiency in Leigh's syndrome: genetic evidence for a nuclear DNA-encoded mutation." Neurology 39(5):697-702.

Mirault, M. E., Tremblay, A., Beaudoin, N. and Tremblay, M. (1991). "Overexpression of seleno-glutathione peroxidase by gene transfer enhances the resistance of T47D human breast cells to clastogenic oxidants." Journal of Biological Chemistry 266(31):20752-20760.

Mirault, M. E., Tremblay, A., Furling, D., Trepanier, G., Dugre, F., Puymirat, J. and Pothier, F. (1994). "Transgenic glutathione peroxidase mouse models for neuroprotection studies." Annals of the New York Academy of Sciences 738:104-115.

Mirel, D. B., Marder, K., Graziano, J., Freyer, G., Zhao, Q., Mayeux, R. and Wilhelmsen, K. C. (1998). "Characterization of the human mitochondrial aconitase gene (ACO2)." Gene 213(1-2):205-218.

Mishmar, D., Ruiz-Pesini, E.E., Golik, P., Macaulay, V., Clark, A.G., Hosseini, S., Brandon, M., Easley, K., Chen, E., Brown, M.D., Sukernik, R.I., Olckers, A. and Wallace, D.C. (2003). "Natural selection shaped regional mtDNA variation in humans." Proceedings of the National Academy of Sciences of the United States of America 100(1):171-176.

Mita, S., Monnat, R. J., Jr. and Loeb, L. A. (1988). "Direct selection of mutations in the human mitochondrial tRNAThr gene: reversion of an 'uncloneable' phenotype." Mutation Research 199(1):183-190.

Mita, S., Rizzuto, R., Moraes, C. T., Shanske, S., Arnaudo, E., Fabrizi, G. M., Koga, Y., DiMauro, S. and Schon, E. A. (1990). "Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA." Nucleic Acids Research 18(3):561-567.

Mita, S., Schmidt, B., Schon, E. A., DiMauro, S. and Bonilla, E. (1989). "Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome." Proceedings of the National Academy of Sciences of the United States of America 86(23):9509-9513.

Mita, S., Tokunaga, M., Kumamoto, T., Uchino, M., Nonaka, I. and Ando, M. (1995). "Mitochondrial DNA mutation and muscle pathology in mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes." Muscle and Nerve 3(8):S113-S118.

Mita, S., Tokunaga, M., Uyama, E., Kumamoto, T., Uekawa, K. and Uchino, M. (1998). "Single muscle fiber analysis of myoclonus epilepsy with ragged-red fibers." Muscle and Nerve 21(4):490-497.

Mitani, I., Miyazaki, S., Hayashi, T., Fukidome, Y. and Shimo-oku, M. (1998). "Detection of mitochondrial DNA nucleotide 11778 point mutation of Leber hereditary optic neuropathy from archival stained histopathological preparations." Acta Ophthalmologica Scandinavica 76(1):14-19.

Mitchell, G. A., Ozand, P. T., Robert, M. F., Ashmarina, L., Roberts, J., Gibson, K. M., Wanders, R. J., Wang, S., Chevalier, I., Plochl, E. and Miziorko, H. (1998). "HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q." American Journal of Human Genetics 62(2):295-300.

Mitchell, P. (1976). "Possible molecular mechanisms of the protonmotive function of cytochrome systems." Journal of Theoretical Biology 62:327-347.

Mitchell, P. (1976). "Vectorial chemistry and the molecular mechanics of chemiosmotic coupling: power transmission by proticity." Biochemical Society Transactions 4:399-430.

Mitchell, P. and Moyle, J. (1967). "Acid-base titration across the membrane system of rat-liver mitochondria. Catalysis by uncouplers." Biochemical Journal 104(2):588-600.

Mitchell, P. and Moyle, J. (1967). "Chemiosmotic hypothesis of oxidative phosphorylation." Nature 213(72):137-139.

Miyabayashi, S., Hanamizu, H., Endo, H., Tada, K. and Horai, S. (1991). "A new type of mitochondrial DNA deletion in patients with encephalomyopathy." Journal of Inherited Metabolic Disease 14(5):805-812.

Miyabayashi, S., Hanamizu, H., Nakamura, R., Endo, H. and Tada, K. (1992). "Defects of mitochondrial respiratory enzymes in cloned cells from MELAS fibroblasts." Journal of Inherited Metabolic Disease 15(5):797-802.

Miyako, K., Kai, Y., Irie, T., Takeshige, K. and Kang, D. (1997). "The content of intracellular mitochondrial DNA is decreased by 1-methyl-4-phenylpyridinium ion (MPP+)." Journal of Biological Chemistry 272(15):9605-9608.

Miyata, T., Hayashida, H., Kikuno, R., Hasegawa, M., Kobayashi, M. and Koike, K. (1982). "Molecular clock of silent substitution: at least six-fold preponderance of silent changes in mitochondrial genes over those in nuclear genes." Journal of Molecular Evolution 19(1):28-35.

Mizoule, J., Gauthier, A., Uzan, A., Renault, C., Dubroeucq, M. C., Gueremy, C. and Le Fur, G. (1985). "Opposite effects of two ligands for peripheral type benzodiazepine binding sites, PK 11195 and RO5-4864, in a conflict situation in the rat." Life Sciences 36(11):1059-1068.

Mizuno, Y., Ikebe, S., Hattori, N., Kondo, T., Tanaka, M. and Ozawa, T. (1993). "Mitochondrial energy crisis in Parkinson's disease." Advances in Neurolology 60:282-287.

Mizuno, Y., Ikebe, S., Hattori, N., Nakagawa-Hattori, Y., Mochizuki, H., Tanaka, M. and Ozawa, T. (1995). "Role of mitochondria in the etiology and pathogenesis of Parkinson's disease." Biochimica et Biophysica Acta 1271(1):265-274.

Mizuno, Y., Ohta, S., Tanaka, M., Takamiya, S., Suzuki, K., Sato, T., Oya, H., Ozawa, T. and Kagawa, Y. (1989). "Deficiencies in complex I subunits of the respiratory chain in Parkinson's disease." Biochemical and Biophysical Research Communications 163(3):1450-1455.

Mizuno, Y., Saitoh, T. and Sone, N. (1987). "Inhibition of mitochondrial alpha-ketoglutarate dehydrogenase by 1-methyl-4-phenylpyridinium ion." Biochemical and Biophysical Research Communications 143(3):971-976.

Mizuno, Y., Sone, N. and Saitoh, T. (1987). "Effects of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine and 1-methyl-4-phenylpyridinium ion on activities of the enzymes in the electron transport system in mouse brain." Journal of Neurochemistry 48(6):1787-1793.

Mizuno, Y., Sone, N., Suzuki, K. and Saitoh, T. (1988). "Studies on the toxicity of 1-methyl-4-phenylpyridinium ion (MPP+) against mitochondria of mouse brain." Journal of the Neurological Sciences 86(1):97-110.

Mizuno, Y., Suzuki, K. and Ohta , S. (1990). "Postmortem changes in mitochondrial respiratory enzymes in brain and a preliminary observation in Parkinson's disease." Journal of the Neurological Sciences 96(1):49-57.

Mizuno, Y., Suzuki, K., Sone, N. and Saitoh, T. (1988). "Inhibition of mitochondrial respiration by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) in mouse brain in vivo." Neuroscience Letters 91(3):349-353.

Mohri, I., Taniike, M., Fujimura, H., Matsuoka, T., Inui, K., Nagai, T. and Okada, S. (1998). "A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up." Journal of the Neurological Sciences 158(1):106-109.

Moilanen, J. S. and Majamaa, K. (2001). "Relative fitness of carriers of the mitochondrial DNA mutation 3243A > G." European Journal of Human Genetics 9(1):59-62.

Mojon, D. S., Kaufmann, P., Odel, J. G., Lincoff, N. S., Marquez-Fernandez, M., Santiesteban, R., Fuentes-Pelier, D. and Hirano, M. (1997). "Clinical course of a cohort in the Cuban epidemic optic and peripheral neuropathy." Neurology 48(1):19-22.

Moncada, S., Palmer, R. M. and Higgs, E. A. (1989). "Biosynthesis of nitric oxide from L-arginine. A pathway for the regulation of cell function and communication." Biochemical Pharmacology 38(11):1709-1715.

Monsalve, M. V., Cardenas, F., Guhl, F., Delaney, A. D. and Devine, D. V. (1996). "Phylogenetic analysis of mtDNA lineages in South American mummies." Annals of Human Genetics 60(Pt 4):293-303.

Monsalve, M. V., Groot de Restrepo, H., Espinel, A., Correal, G. and Devine, D. V. (1994). "Evidence of mitochondrial DNA diversity in South American aboriginals." Annals of Human Genetics 58(Pt 3):265-273.

Monsalve, M. V. and Hagelberg, E. (1997). "Mitochondrial DNA polymorphisms in Carib people of Belize." Proceedings of the Royal Society of London - Series B: Biological Sciences 264(1385):1217-1224.

Montagna, P., Gallassi, R., Medori, R., Govoni, E., Zeviani, M., Di Mauro, S., Lugaresi, E. and Andermann, F. (1988). "MELAS syndrome: characteristic migrainous and epileptic features and maternal transmission." Neurology 38(5):751-754.

Montgomery, R. I., Coleman, W. B., Eble, K. S. and Cunningham, C. C. (1987). "Ethanol-elicited alterations in the oligomycin sensitivity and structural stability of the mitochondrial F0 . F1 ATPase." Journal of Biological Chemistry 262(27):13285-13289.

Montoya, J., Christianson, T., Levens, D., Rabinowitz, M. and Attardi, G. (1982). "Identification of initiation sites for heavy-strand and light-strand transcription in human mitochondrial DNA." Proceedings of the National Academy of Sciences of the United States of America 79:7195-7199.

Montoya, J., Gaines, G. L. and Attardi, G. (1983). "The pattern of transcription of the human mitochondrial rRNA genes reveals two overlapping transcription units." Cell 34:151-159.

Montoya, J., Ojala, D. and Attardi, G. (1981). "Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs." Nature 290:465-470.

Monzini, N., Legname, G., Marcucci, F., Gromo, G. and Modena, D. (1994). "Identification and cloning of human chaperonin 10 homologue." Biochimica et Biophysica Acta 1218(3):478-480.

Moore, F. L. and Reijo-Pera, R. A. (2000). "Male sperm motility dictated by mother's mtDNA." American Journal of Human Genetics 67(3):543-548.

Moorman, C. M., Elston, J. S. and Matthews, P. (1993). "Leber's hereditary optic neuropathy as a cause of severe visual loss in childhood." Pediatrics 91(5):988-989.

Moraes, C. T., Andreetta, F., Bonilla, E., Shanske, S., DiMauro, S. and Schon, E. A. (1991). "Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region." Molecular and Cellular Biology 11(3):1631-1637.

Moraes, C. T., Ciacci, F., Bonilla, E., Ionasescu, V., Schon, E. A. and DiMauro, S. (1993). "A mitochondrial tRNA anticodon swap associated with a muscle disease." Nature Genetics 4:284-288.

Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Hirano, M., Rao, N., Lovelace, R. E., Rowland, L. P., Schon, E. A. and DiMauro, S. (1993). "Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNALeu(UUR) gene an etiologic hot spot?" Journal of Clinical Investigation 92(6):2906-2915.

Moraes, C. T., Ciacci, F., Bonilla, E., Jansen, C., Ionasescu, V. V., Hirano, M., Rao, N., Lovelace, R. E., Schon, E. A. and DiMauro, S. (1993). "Identification of novel pathogenetic mitochondrial DNA mutations in patients with mitochondrial encephalomyopathies." Neurology 43:A401.

Moraes, C. T., Ciacci, F., Silverstri, G., Shanske, S., Sciacco, M., Hirano, M., Schon, E. A., Bonilla, E. and DiMauro, S. (1993). "Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA." Neuromuscular Disorders 3(1):43-50.

Moraes, C. T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., et al. (1989). "Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome." New England Journal of Medicine 320:1293-1299.

Moraes, C. T., Ricci, E., Bonilla, E., DiMauro, S. and Schon, E. A. (1992). "The mitochondrial tRNALeu(UUR) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle." American Journal of Human Genetics 50(5):934-949.

Moraes, C. T., Ricci, E., Petruzzella, V., Shanske, S., DiMauro, S., Schon, E. A. and Bonilla, E. (1992). "Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions." Nature Genetics 1(5):359-367.

Moraes, C. T. and Schon, E. A. (1996). "Detection and analysis of mitochondrial DNA and RNA in muscle by in situ hybridization and single-fiber PCR." Methods in Enzymology 264:522-540.

Moraes, C. T., Schon, E. A., DiMauro, S. and Miranda, A. F. (1989). "Heteroplasmy of mitochondrial genomes in clonal cultures from patients with Kearns-Sayre syndrome." Biochemical and Biophysical Research Communications 160:765-771.

Moraes, C. T., Sciacco, M., Ricci, E., Tengan, C. H., Hao, H., Bonilla, E., Schon, E. A. and DiMauro, S. (1995). "Phenotype-genotype correlations in skeletal muscle of patients with mtDNA deletions." Muscle and Nerve 3(3):S150-S153.

Moraes, C. T., Shanske, S., Tritschler, H. J., Aprille, J. R., Andreetta, F., Bonilla, E., Schon, E. A. and DiMauro, S. (1991). "MtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases." American Journal of Human Genetics 48(3):492-501.

Moraes, C. T., Zeviani, M., Schon, E. A., Hickman, R. O., Vlcek, B. W. and DiMauro, S. (1991). "Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: an example of phenotypic mimicry?" American Journal of Medical Genetics 41:301-305.

Morais, R., Desjardins, P., Turmel, C. and Zinkewich-Peotti, K. (1988). "Development and characterization of continuous avian cell lines depleted of mitochondrial DNA." In Vitro Cellular and Developmental Biology 24(7):649-658.

Moreadith, R. W. and Fiskum, G. (1984). "Isolation of mitochondria from ascites tumor cells permeabilized with digitonin." Analytical Biochemistry 137(2):360-367.

Morgan-Hughes, J. A. and Hanna, M. G. (1999). "Mitochondrial encephalomyopathies: the enigma of genotype versus phenotype." Biochimica et Biophysica Acta 1410(2):125-145.

Morgan-Hughes, J. A., Sweeney, M. G., Cooper, J. M., Hammans, S. R., Brockington, M., Schapira, A. H., Harding, A. E. and Clark, J. B. (1995). "Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype." Biochimica et Biophysica Acta 1271(1):135-140.

Morgello, S., Wolfe, D., Godfrey, E., Feinstein, R., Tagliati, M. and Simpson, D. M. (1995). "Mitochondrial abnormalities in human immunodeficiency virus-associated myopathy." Acta Neuropathologica 90(4):366-374.

Morikawa, Y., Matsuura, N., Kakudo, K., Higuchi, R., Koike, M. and Kobayashi, Y. (1993). "Pearson's marrow/pancreas syndrome: a histological and genetic study." Virchows Arch A, Pathological Anatomy and Histopathology 423:227-231.

Morris, A. A., Farnsworth, L., Ackrell, B. A., Turnbull, D. M. and Birch-Machin, M. A. (1994). "The cDNA sequence of the flavoprotein subunit of human heart succinate dehydrogenase." Biochim Biophys Acta 1185(1):125-128.

Morris, A. A., Lamont, P. J. and Clayton, P. T. (1997). "Pearson's syndrome without marrow involvement." Archives of Disease in Childhood 77(1):56-57.

Morris, A. A., Leonard, J. V., Brown, G. K., Bidouki, S. K., Bindoff, L. A., Woodward, C. E., Harding, A. E., Lake, B. D., Harding, B. N., Farrell, M. A., Bell, J. E., Mirakhur, M. and Turnbull, D. M. (1996). "Deficiency of respiratory chain complex I is a common cause of Leigh disease." Annals of Neurology 40(1):25-30.

Morris, A. A., Taanman, J. W., Blake, J., Cooper, J. M., Lake, B. D., Malone, M., Love, S., Clayton, P. T., Leonard, J. V. and Schapira, A. H. (1998). "Liver failure associated with mitochondrial DNA depletion." Journal of Hepatology 28(4):556-563.

Morrissey, S. P., Borruat, F. X., Miller, D. H., Moseley, I. F., Sweeney, M. G., Govan, G. G., Kelly, M. A., Francis, D. A., Harding, A. E. and McDonald, W. I. (1995). "Bilateral simultaneous optic neuropathy in adults: clinical, imaging, serological, and genetic studies." Journal of Neurology, Neurosurgery and Psychiatry 58(1):70-74.

Morse, H. C. d., Chattopadhyay, S. K., Makino, M., Fredrickson, T. N., Hugin, A. W. and Hartley, J. W. (1992). "Retrovirus-induced immunodeficiency in the mouse: MAIDS as a model for AIDS [editorial]." AIDS 6(7):607-621.

Morten, K., Brown, G., Lake, B., Wilson, J. and Poulton, J. (1992). "A new point mutation associated with the MELAS phenotype." 2nd Internationl Congress of Human Mitochondrial Pathology (EUROMIT):39.

Morten, K. J., Poulton, J. and Sykes, B. (1995). "Multiple independent occurrence of the 3243 mutation in mitochondrial tRNA(leuUUR) in patients with the MELAS phenotype." Human Molecular Genetics 4(9):1689-1691.

Mosewich, R. K., Donat, J. R., DiMauro, S., Ciafaloni, E., Shanske, S., Erasmus, M. and George, D. (1993). "The syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes presenting without stroke." Archives of Neurology 50:275-278.

Mosier, D. E. (1996). "Small animal models for acquired immune deficiency syndrome (AIDS) research." Laboratory Animal Science 46(3):257-265.

Mosier, D. E., Yetter, R. A. and Morse, H. C. (1985). "Retroviral induction of acute lymphoproliferative disease and profound immunosuppression in adult C57BL/6 mice." Journal of Experimental Medicine 161(4):766-784.

Moslemi, A. R., Lindberg, C. and Oldfors, A. (1997). "Analysis of multiple mitochondrial DNA deletions in inclusion body myositis." Human Mutation 10(5):381-386.

Moslemi, A. R., Tulinius, M., Holme, E. and Oldfors, A. (1998). "Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres." Neuromuscular Disorders 8(5):345-349.

Mountain, J. L., Hebert, J. M., Bhattacharyya, S., Underhill, P. A., Ottolenghi, C., Gadgil, M. and Cavalli-Sforza, L. L. (1995). "Demographic history of India and mtDNA-sequence diversity." American Journal of Human Genetics 56(4):979-992.

Mountford, P., Zevnik, B., Duwel, A., Nichols, J., Li, M., Dani, C., Robertson, M., Chambers, I. and Smith, A. (1994). "Dicistronic targeting constructs: reporters and modifiers of mammalian gene expression." Proceedings of the National Academy of Sciences of the United States of America 91(10):4303-4307.

Mrozikiewicz, P. M., Landt, O., Cascorbi, I. and Roots, I. (1997). "Peptide nucleic acid-mediated polymerase chain reaction clamping allows allelic allocation of CYP1A1 mutations." Analytical Biochemistry 250(2):256-257.

Muller, U. (1999). "Ten years of gene targeting: targeted mouse mutants, from vector design to phenotype analysis." Mech Dev 82(1-2):3-21.

Muller-Hocker, J. (1990). "Cytochrome c oxidase deficient fibres in the limb muscle and diaphragm of man without muscular disease: an age-related alteration." Journal of the Neurological Sciences 100:14-21.

Muller-Hocker, J. (1992). "Mitochondria and ageing." Brain Pathology 2(2):149-158.

Muller-Hocker, J., Aust, D., Rohrbach, H., Napiwotzky, J., Reith, A., Link, T. A., Seibel, P., Holzel, D. and Kadenbach, B. (1997). "Defects of the respiratory chain in the normal human liver and in cirrhosis during aging." Hepatology 26(3):709-719.

Muller-Hocker, J., Jacob, U. and Seibel, P. (1998). "The common 4977 base pair deletion of mitochondrial DNA preferentially accumulates in the cardiac conduction system of patients with Kearns-Sayre syndrome." Modern Pathology 11(3):295-301.

Muller-Hocker, J., Jacob, U. and Seibel, P. (1998). "Hashimoto thyroiditis is associated with defects of cytochrome-c oxidase in oxyphil Askanazy cells and with the common deletion (4,977) of mitochondrial DNA." Ultrastructural Pathology 22(1):91-100.

Muller-Hocker, J., Schneiderbanger, K., Stefani, F. H. and Kadenbach, B. (1992). "Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing -- a cytochemical-immunohistochmeical study." Mutation Research 275:115-124.

Muller-Hocker, J., Seibel, P., Schneiderbanger, K. and Kadenbach, B. (1993). "Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly." Virchows Arch A, Pathological Anatomy and Histopathology 422:7-15.

Mumm, S., Whyte, M. P., Thakker, R. V., Buetow, K. H. and Schlessinger, D. (1997). "mtDNA analysis shows common ancestry in two kindreds with X-linked recessive hypoparathyroidism and reveals a heteroplasmic silent mutation." American Journal of Human Genetics 60(1):153-159.

Munaro, M., Tiranti, V., Sandona, D., Lamantea, E., Uziel, G., Bisson, R. and Zeviani, M. (1997). "A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome." Human Molecular Genetics 6(2):221-228.

Munnich, A. (1997). "[Respiratory chain and mitochondrial DNA]." Journees Annuelles de Diabetologie de l Hotel-Dieu:1-15.

Munscher, C., Muller-Hocker, J. and Kadenbach, B. (1993). "Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA." Biological Chemistry Hoppe Seyler 374:1099-1104.

Munscher, C., Rieger, T., Muller-Hocker, J. and Kadenbach, B. (1993). "The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages." FEBS Letters 317(1-2):27-30.

Muraki, K., Goto, Y., Nishino, I., Hayashidani, M., Takeuchi, S., Horai, S., Sakura, N. and Ueda, K. (1997). "Severe lactic acidosis and neonatal death in Pearson syndrome." Journal of Inherited Metabolic Disease 20(1):43-48.

Murdock, D. G., Christacos, N. C. and Wallace, D. C. (2000). "The age-related accumulation of a mitochondrial DNA control region mutation in muscle, but not brain, detected by a sensitive PNA-directed PCR clamping based method." Nucleic Acids Research 28(21):4350-4355.

Murdock, D., Boone, B. E., Esposito, L. and Wallace, D. C. (1999). "Up-regulation of nuclear and mitochondrial genes in the skeletal muscle of mice lacking the heart/muscle isoform of the adenine nucleotide translocator." Journal of Biological Chemistry 274(20):14429-14433.

Murphy, M. P. and Smith, R. A. (2000). "Drug delivery to mitochondria: the key to mitochondrial medicine." Advance Drug Delivery Reveiws 41(2):235-250.

Murphy, R. C., Diwan, J. J., King, M. and Kinnally, K. W. (1998). "Two high conductance channels of the mitochondrial inner membrane are independent of the human mitochondrial genome." FEBS Letters 425(2):259-262.

Murrell, J., Farlow, M., Ghetti, B. and Benson, M. D. (1991). "A mutation in the amyloid precursor protein associated with hereditary Alzheimer's disease." Science 254(5028):97-99.

Musumeci, O., Andreu, A. L., Shanske, S., Bresolin, N., Comi, G. P., Rothstein, R., Schon, E. A. and DiMauro, S. (2000). "Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy." American Journal of Human Genetics 66(6):1900-1904.

Mutisya, E. M., Bowling, A. C. and Beal, M. F. (1994). "Cortical cytochrome oxidase activity is reduced in Alzheimer's disease." Journal of Neurochemistry 63(6):2179-2184.

Myers, R. M., Fischer, S. G., Lerman, L. S. and Maniatis, T. (1985). "Nearly all single base substitutions in DNA fragments joined to a GC- clamp can be detected by denaturing gradient gel electrophoresis." Nucleic Acids Research 13(9):3131-3145.

N

Nachman, M. W. (1998). "Deleterious mutations in animal mitochondrial DNA." Genetica 102-103(1-6):61-69.

Nagase, T., Seki, N., Tanaka, A., Ishikawa, K. and Nomura, N. (1995). "Prediction of the coding sequences of unidentified human genes. IV. The coding sequences of 40 new genes (KIAA0121-KIAA0160) deduced by analysis of cDNA clones from human cell line KG-1." DNA Research 2(4):167-174, 199-210.

Nagashima, T., Mori, M., Katayama, K., Nunomura, M., Nishihara, H., Hiraga, H., Tanaka, S., Goto, Y. and Nagashima, K. (1999). "Adult Leigh syndrome with mitochondrial DNA mutation at 8993." Acta Neuropathologica 97(4):416-422.

Nagel, J. D., Haverkamp, F. and Lentze, M. J. (1997). "[Mitochondrial diseases]." Klinische Padiatrie 209(6):345-356.

Nagley, P., Mackay, I. R., Baumer, A., Maxwell, R. J., Vaillant, F., Wang, Z. X., Zhang, C. and Linnane, A. W. (1992). "Mitochondrial DNA mutation associated with aging and degenerative disease." Annals of the New York Academy of Science 673:92-102.

Nagley, P. and Wei, Y. H. (1998). "Ageing and mammalian mitochondrial genetics." Trends in Genetics 14(12):513-517.

Nagley, P., Zhang, C., Martinus, R. D., Vaillant, F. and Linnane, A. (1992). "Mitochondrial DNA mutation and human aging: molecular biology, bioenergetics, and redox therapy." In Mitochondrial DNA in Human Pathology: 137-157; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Nakagawa, Y., Ikegami, H., Yamato, E., Takekawa, K., Fujisawa, T., Hamada, Y., Ueda, H., Uchigata, Y., Miki, T., Kumahara, Y. and Ogihara, T. (1995). "A new mitochondrial DNA mutation associated with non-insulin-dependent diabetes mellitus [published erratum appears in Biochim Biophys Res Commun 209:664-668, 1995]." Biochemical and Biophysical Research Communications 209(2):664-668.

Nakagawa-Hattori, Y., Yoshino, H., Kondo, T., Mizuno, Y. and Horai, S. (1992). "Is Parkinson's disease a mitochondrial disorder?" Journal of the Neurological Sciences 107:29-33.

Nakahara, H., Kanno, T., Inai, Y., Utsumi, K., Hiramatsu, M., Mori, A. and Packer, L. (1998). "Mitochondrial dysfunction in the senescence accelerated mouse (SAM)." Free Radical Biology and Medicine 24(1):85-92.

Nakai, A., Goto, Y., Fujisawa, K., Shigematsu, Y., Kikawa, Y., Konishi, Y., Nonaka, I. and Sudo, M. (1994). "Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion." Lancet 343(8910):1397-1398.

Nakai, K. and Kanehisa, M. (1992). "A knowledge base for predicting protein localization sites in eukaryotic cells." Genomics 14(4):897-911.

Nakamura, M. and Akiguchi, I. (1997). "[Detection of mit DNA point mutations by mutation-specific PCR]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3277-3281.

Nakamura, M., Ara, F., Yamada, M., Hotta, Y., Hayakawa, M., Fujiki, K., Kanai, A., Sakai, J., Inoue, M., Yamamoto, M., Fujiwara, Y., Umoto, A., Miyazaki, S., Shimo-Oku, M., Furuyama, J.-I., Nakajima, A. and Imachi, J. (1992). "High frequency of mitochondrial ND4 gene mutation in Japanese pedigrees with Leber hereditary optic neuropathy." Japanese Journal of Ophthalmology 36(1):56-61.

Nakamura, M., Fujiwara, Y. and Yamamoto, M. (1993). "Homoplasmic and exclusive ND4 gene mutation in Japanese pedigrees with Leber's disease." Investigative Ophthalmology and Visual Science 34(3):488-495.

Nakamura, M., Nakano, S., Goto, Y., Ozawa, M., Nagahama, Y., Fukuyama, H., Akiguchi, I., Kaji, R. and Kimura, J. (1995). "A novel point mutation in the mitochondrial tRNASer(UCN) gene detected in a family with MERRF/MELAS overlap syndrome." Biochemical and Biophysical Research Communications 214(1):86-93.

Nakamura, M. and Yamamoto, M. (1994). "[Genetic characteristics of Japanese pedigrees with Leber's hereditary optic neuropathy]." Nippon Ganka Gakkai Zasshi 98(4):319-326.

Nakamura, N. (1997). "[Specific detection of deleted mitochondrial DNA by in situ hybridization using an oligonucleotide probe]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3286-3290.

Nakano, S., Fukuda, M., Hotta, F., Ito, T., Ishii, T., Kitazawa, M., Nishizawa, M., Kigoshi, T., Kakinuma, H., Takahashi, H. and Uchida, K. (1998). "Mitochondrial DNA point mutation at nucleotide pair 3316 in a Japanese family with heterogeneous phenotypes of diabetes." Endocrine Journal 45(5):625-630.

Nakase, H., Moraes, C. T., Rizzuto, R., Lombes, A., DiMauro, S. and Schon, E. A. (1990). "Transcription and translation of deleted mitochondrial genomes in Kearns-Sayre syndrome: implications for pathogenesis." American Journal of Human Genetics 46:418-427.

Nakazono, K., Watanabe, N., Matsuno, K., Sasaki, J., Sato, T. and Inoue, M. (1991). "Does superoxide underlie the pathogenesis of hypertension?" Proceedings of the National Academy of Sciences of the United States of America 88(22):10045-10048.

Napiwotzki, J. and Kadenbach, B. (1998). "Extramitochondrial ATP/ADP-ratios regulate cytochrome c oxidase activity via binding to the cytosolic domain of subunit IV." Biological Chemistry 379(3):335-339.

Napiwotzki, J., Shinzawa-Itoh, K., Yoshikawa, S. and Kadenbach, B. (1997). "ATP and ADP bind to cytochrome c oxidase and regulate its activity." Biological Chemistry 378(9):1013-1021.

Nardelli, M., Tommasi, S., D'Erchia, A. M., Tanzariello, F., Tullo, A., Primavera, A. T., De Lena, M., Sbisa, E. and Saccone, C. (1994). "Detection of novel transcripts in the human mitochondrial DNA region coding for ATPase8-ATPase6 subunits." FEBS Letters 344(1):10-14.

Nass, S. and Nass, M. M. K. (1963). "Intramitochondrial fibers with DNA characteristics." Journal of Cell Biology 19:593-629.

Naumova, O., Rychkov, S., Bazaliiskii, V. I., Mamonova, N. N., Sulerzhitskii, L. D. and Rychkov Iu, G. (1997). "[Molecular genetic characteristics of the neolithic population of the Baikal region: RFLP analysis of the ancient mitochondrial DNA from osseous remains found in the Ust-Ida I burial ground]." Genetika 33(10):1418-1425.

Naumova, O. Y. and Rychkov, S. Y. (1998). "Siberian population of the New Stone Age: mtDNA haplotype diversity in the ancient population from the Ust'-Ida I burial ground, dated 4020-3210 BC by 14C." Anthropologischer Anzeiger 56(1):1-6.

Naviaux, R. K., Nyhan, W. L., Barshop, B. A., Poulton, J., Markusic, D., Karpinski, N. C. and Haas, R. H. (1999). "Mitochondrial DNA polymerase gamma deficiency and mtDNA depletion in a child with Alpers' syndrome." Annals of Neurology 45(1):54-58.

Neckelmann, N., Li, K., Wade, R. P., Shuster, R. and Wallace, D. C. (1987). "cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes." Proceedings of the National Academy of Sciences of the United States of America 84(21):7580-7584.

Neckelmann, N., Warner, C., K., Chung, A., Kudoh, J., Minoshima, S., Fukuyama, R., Maekawa, M., Shimizu, Y., Shimizu, N., Liu, J. D. and Wallace, D. C. (1989). "The human ATP synthase beta subunit gene: sequence analysis, chromosome assignment, and differential expression." Genomics 5(4):829-843.

Nei, M. and Tajima, F. (1983). "Maximum likelihood estimation of the number of nucleotide substitutions from restriction sites data." Genetics 105:207-217.

Nelson, I., Bonne, G., Degoul, F., Marsac, C., Ponsot, G. and Lestienne, P. (1992). "Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations." Neuropediatrics 23:199-205.

Nelson, I., d'Auriol, L., Galibert, F., Ponsot, G. and Lestienne, P. (1989). "[Nucleotide mapping and a kinetic model of a heteroplasmic deletion of 4,666 base pairs from mitochondrial DNA in the Kearns-Sayre syndrome]." Comptes Rendus de l'Academie des Sciences - Serie III, Science de la Vie 309:403-407.

Nelson, I., Hanna, M. G., Alsanjari, N., Scaravilli, F., Morgan-Hughes, J. A. and Harding, A. E. (1995). "A new mitochondrial DNA mutation associated with progressive dementia and chorea: a clinical, pathological, and molecular genetic study." Annals of Neurology 37(3):400-403.

Nelson, I., Hanna, M. G., Wood, N. W. and Harding, A. E. (1997). "Depletion of mitochondrial DNA by ddC in untransformed human cell lines." Somatic Cell & Molecular Genetics 23(4):287-290.

Nesbo, C. L., Arab, M. O. and Jakobsen, K. S. (1998). "Heteroplasmy, length and sequence variation in the mtDNA control regions of three percid fish species (Perca fluviatilis, Acerina cernua, Stizostedion lucioperca)." Genetics 148(4):1907-1919.

Neubert, D., Oberdisse, E. and Bass, R. (1968). "Biosynthesis and degradation of mammalian mitochondrial DNA." In Biochemical Aspects of the Biogenesis of Mitochondria: 103-128; Bari, Adriatica Editrice. Slater, E. C., Tager, J. M., Papa, S. and Quagliarello, E., Eds.

Neupert, W. (1997). "Protein import into mitochondria." Annual Review of Biochemistry 66:863-917.

Nevel-McGarvey, C. A., Levin, R. M., Haugaard, N., Wu, X. and Hudson, A. P. (1999). "Mitochondrial involvement in bladder function and dysfunction." Molecular & Cellular Biochemistry 194(1-2):1-15.

Newkirk, J. E., Taylor, R. W., Howell, N., Bindoff, L. A., Chinnery, P. F., Alberti, K. G., Turnbull, D. M. and Walker, M. (1997). "Maternally inherited diabetes and deafness: prevalence in a hospital diabetic population." Diabetic Medicine 14(6):457-460.

Newman, N. J. (1993). "Leber's hereditary optic neuropathy. New genetic considerations." Archives of Neurology 50(5):540-548.

Newman, N. J., Lott, M. T. and Wallace, D. C. (1991). "The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation." American Journal of Ophthalmology 111(6):750-762.

Newman, N. J., Torroni, A., Brown, M. D., Lott, M. T., Fernandez, M. M., Wallace, D. C. and Cuba Neuropathy Field Investigation Team (1994). "Epidemic neuropathy in Cuba not associated with mitochondrial DNA mutations found in Leber's hereditary optic neuropathy patients." American Journal of Ophthalmology 118(2):158-168.

Newman, N. J., Torroni, A., Brown, M. D., Lott, M. T., Wallace, D. C., Philen, R. and Roman, G. C. (1995). "Cuban optic neuropathy [letter; comment]." Neurology 45(2):397.

Newman, N. J. and Wallace, D. C. (1990). "Mitochondria and Leber's hereditary optic neuropathy." American Journal of Ophthalmology 109(6):726-730.

Ngo, K. Y., Vergnaud, G., Johnsson, C., Lucotte, G. and Weissenbach, J. (1986). "A DNA probe detecting multiple haplotypes of the human Y chromosome." American Journal of Human Genetics 38(4):407-418.

Niaudet, P., Heidet, L., Munnich, A., Schmitz, J., Bouissou, F., Gubler, M. C. and Rotig, A. (1994). "Deletion of the mitochondrial DNA in a case of de Toni-Debre-Fanconi syndrome and Pearson syndrome." Pediatric Nephrology 8(2):164-168.

Niaudet, P. and Rotig, A. (1997). "The kidney in mitochondrial cytopathies [editorial]." Kidney International 51(4):1000-1007.

Nicklas, W. J., Vyas, I. and Heikkila, R. E. (1985). "Inhibition of NADH-linked oxidation in brain mitochondria by 1-methyl-4-phenyl-pyridine, a metabolite of the neurotoxin, 1-methyl-4-phenyl-1,2,5,6-tetrahydropyridine." Life Sciences 36(26):2503-2508.

Nicolino, M., Ferlin, T., Forest, M., Godinot, C., Carrier, H., David, M., Chatelain, P. and Mousson, B. (1997). "Identification of a large-scale mitochondrial deoxyribonucleic acid deletion in endocrinopathies and deafness: report of two unrelated cases with diabetes mellitus and adrenal insufficiency, respectively." Journal of Clinical Endocrinology & Metabolism 82(9):3063-3067.

Nielsen, R. (1998). "Maximum likelihood estimation of population divergence times and population phylogenies under the infinite sites model." Theoretical Population Biology 53(2):143-151.

Niemi, A. K., Hervonen, A., Hurme, M., Karhunen, P. J., Jylha, M. and Majamaa, K. (2003). "Mitochondrial DNA polymorphisms associated with longevity in a Finnish population." Human Genetics 112(1):29-33.

Nierlich, D. P. (1982). "Fragmentary 5S rRNA gene in the human mitochondrial genome." Molecular and Cellular Biology 2:207-209.

Nigou, M., Parfait, B., Clauser, E. and Olivier, J. L. (1998). "Detection and quantification of the A3243G mutation of mitochondrial DNA by ligation detection reaction." Molecular & Cellular Probes 12(5):273-282.

Nigro, M. A., Martens, M. E., Awerbuch, G. I., Peterson, P. L. and Lee, C. P. (1990). "Partial cytochrome b deficiency and generalized dystonia." Pediatric Neurology 6(6):407-410.

Nikoskelainen, E. (1984). "New aspects of the genetic, etiologic, and clinical puzzle of Leber's disease." Neurology 34(11):1482-1484.

Nikoskelainen, E., Hassinen, I. E., Paljarvi, L., Lang, H. and Kalimo, H. (1984). "Leber's hereditary optic neuroretinopathy, a mitochondrial disease?" Lancet 2(8417-8418):1474.

Nikoskelainen, E., Hoyt, W. F. and Nummelin, K. (1982). "Ophthalmoscopic findings in Leber's hereditary optic neuropathy. I. Fundus findings in asymptomatic family members." Archives of Ophthalmology 100(10):1597-1602.

Nikoskelainen, E., Hoyt, W. F., Nummelin, K. and Schatz, H. (1984). "Fundus findings in Leber's hereditary optic neuroretinopathy. III. Fluorescein angiographic studies." Archives of Ophthalmology 102(7):981-989.

Nikoskelainen, E. K., Marttila, R. J., Huoponen, K., Juvonen, V., Lamminen, T., Sonninen, P. and Savontaus, M. L. (1995). "Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy." Journal of Neurology, Neurosurgery and Psychiatry 59(2):160-164.

Nikoskelainen, E. K., Savontaus, M. L., Huoponen, K., Antila, K. and Hartiala, J. (1994). "Pre-excitation syndrome in Leber's hereditary optic neuropathy." Lancet 344(8926):857-858.

Nikoskelainen, E. K., Savontaus, M. L., Wanne, O. P., Katila, M. J. and Nummelin, K. U. (1987). "Leber's hereditary optic neuroretinopathy, a maternally inherited disease. A genealogic study in four pedigrees." Archives of Ophthalmology 105(5):665-671.

Nishikimi, M., Hosokawa, Y., Toda, H., Suzuki, H. and Ozawa, T. (1990). "The primary structure of human Rieske iron-sulfur protein of mitochondrial cytochrome bc1 complex deduced from cDNA analysis." Biochemistry International 20(1):155-160.

Nishikimi, M., Ohta, S., Suzuki, H., Tanaka, T., Kikkawa, F., Tanaka, M., Kagawa, Y. and Ozawa, T. (1988). "Nucleotide sequence of a cDNA encoding the precursor to human cytochrome c1." Nucleic Acids Research 16(8):3577.

Nishikimi, M., Suzuki, H., Yamaguchi, M., Matsukage, A., Yoshida, M. C. and Ozawa, T. (1988). "Assignment of the human cytochrome c1 gene to chromosome 8." Biochemistry International 16(4):655-660.

Nishimura, M., Obayashi, H., Ohta, M., Uchiyama, T., Hao, Q. and Saida, T. (1995). "No association of the 11778 mitochondrial DNA mutation and multiple sclerosis in Japan." Neurology 45(7):1333-1334.

Nishino, I., Seki, A., Maegaki, Y., Takeshita, K., Horai, S., Nonaka, I. and Goto, Y. (1996). "A novel mutation in the mitochondrial tRNAThr gene associated with a mitochondrial encephalomyopathy." Biochemical and Biophysical Research Communications 225(1):180-185.

Nishino, I., Spinazzola, A. and Hirano, M. (1999). "Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder." Science 283(5402):689-692.

Nishizuka, S., Tamura, G., Goto, Y., Murayama, K., Konno, T., Hakozaki, M., Nonaka, I., Tohgi, H. and Satodate, R. (1998). "Tissue-specific involvement of multiple mitochondrial DNA deletions in familial mitochondrial myopathy." Biochemical & Biophysical Research Communications 247(1):24-27.

Noer, A. S., Sudoya, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E. and Marzuki, S. (1991). "A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome [see comments]." American Journal of Human Genetics 49(4):715-722.

Nonaka, I. (1997). "[Molecular pathology of muscle diseases]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3100-3105.

Nonaka, I. (1998). "[Electron transfer complex IV (cytochrome c oxidase) deficiency]." Ryoikibetsu Shokogun Shirizu (19 Pt 2):497-500.

Nonaka, I. (1998). "[Mitochondria: an overview]." Ryoikibetsu Shokogun Shirizu (19 Pt 2):483-487.

Norby, S. (1993). "Mutation-specific PCR: a rapid and inexpensive diagnostic method, as exemplified by mitochondrial DNA analysis in Leber's hereditary optic neuropathy." DNA and Cell Biology 12(6):549-552.

Norby, S. (1993). "Screening for the two most frequent mutations in Leber's hereditary optic neuropathy by duplex PCR based on allele-specific amplification." Human Mutation 2(4):309-313.

Norby, S., Lestienne, P., Nelson, I., Nielsen, I. M., Schmalbruch, H., Sjo, O. and Warburg, M. (1994). "Juvenile Kearns-Sayre syndrome initially misdiagnosed as a psychosomatic disorder." Journal of Medical Genetics 31(1):45-50.

Norby, S., Lestienne, P., Nelson, I. and Rosenberg, T. (1991). "Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming." Biochemical & Biophysical Research Communications 175(2):631-636.

Nordmann, R. (1994). "Alcohol and antioxidant systems." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 29(5):513-522.

Noronha-Dutra, A. A., Epperlein, M. M. and Woolf, N. (1993). "Reaction of nitric oxide with hydrogen peroxide to produce potentially cytotoxic singlet oxygen as a model for nitric oxide-mediated killing." FEBS Letters 321(1):59-62.

Novgorodov, S. A., Gudz, T. I., Milgrom, Y. M. and Brierley, G. P. (1992). "The permeability transition in heart mitochondria is regulated synergistically by ADP and cyclosporin A." Journal of Biological Chemistry 267(23):16274-16282.

Novotny, E. J., Singh, G., Wallace, D. C., Dorfman, L. J., Louis, A., Sogg, R. L. and Steinman, L. (1986). "Leber's disease and dystonia: a mitochondrial disease." Neurology 36:1053-1060.

Nuovo, G. J. (1997). PCR in situ hybridization: protocols and applications. Philadelphia, Lippincott-Raven Publishers.

Nuovo, G. J., Forde, A., MacConnell, P. and Fahrenwald, R. (1993). "In situ detection of PCR-amplified HIV-1 nucleic acids and tumor necrosis factor cDNA in cervical tissues." American Journal of Pathology 143(1):40-48.

Nuovo, G. J., Gallery, F., MacConnell, P. and Braun, A. (1994). "In situ detection of polymerase chain reaction-amplified HIV-1 nucleic acids and tumor necrosis factor-alpha RNA in the central nervous system." American Journal of Pathology 144(4):659-666.

O

Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T. and Ozawa, T. (1992). "Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy." American Heart Journal 124(5):1263-1269.

Obermaier-Kusser, B., Lorenz, B., Schubring, S., Paprotta, A., Zerres, K., Meitinger, T., Meire, F., Cochaux, P., Blankenagel, A., Kommerell, G., Jaksch, M. and Gerbitz, K. D. (1994). "Features of mtDNA mutation patterns in European pedigrees and sporadic cases with Leber hereditary optic neuropathy." American Journal of Human Genetics 55(5):1063-1066.

Obermaier-Kusser, B., Muller-Hocker, J., Nelson, I., Lestienne, P., Enter, C., Riedele, T. and Gerbitz, K. D. (1990). "Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR." Biochemical and Biophysical Research Communications 169:1007-1015.

Obermaier-Kusser, B., Paetzke-Brunner, I., Enter, C., Muller-Hocker, J., Zierz, S., Ruitenbeek, W. and Gerbitz, K.-D. (1991). "Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome (tRNALeu(UUR))." FEBS Letters 286:67-70.

O'Brien, T. W., Denslow, N. D., Anders, J. C. and Courtney, B. C. (1990). "The translation system of mammalian mitochondria." Biochimica et Biophysica Acta 1050(1-3):174-178.

Odawara, M., Arinami, T., Tachi, Y., Hamaguchi, H., Toru, M. and Yamashita, K. (1998). "Absence of association between a mitochondrial DNA mutation at nucleotide position 3243 and schizophrenia in Japanese [letter]." Human Genetics 102(6):708-709.

Odawara, M., Asakura, Y., Tada, K., Tsurushima, Y. and Yamashita, K. (1995). "Mitochondrial gene mutation as a cause of insulin resistance." Diabetes Care 18(2):275.

Odawara, M., Isaka, M., Tada, K., Mizusawa, H. and Yamashita, K. (1997). "Diabetes mellitus associated with mitochondrial myopathy and schizophrenia: a possible link between diabetes mellitus and schizophrenia." Diabetic Medicine 14(6):503.

Odawara, M., Maki, H. and Yamada, N. (1999). "Pathogenicity of homoplasmic mitochondrial DNA mutation and nuclear gene involvement." Journal of Medical Genetics 36(12):934-935.

Odawara, M., Sasaki, K., Nagafuchi, S., Tanae, A. and Yamashita, K. (1994). "Lack of association between mitochondrial gene mutation np 3243 and type 1 diabetes mellitus and autoimmune thyroid diseases." Lancet 344(8929):1086.

Odawara, M., Sasaki, K., Tachi, Y. and Yamashita, K. (1995). "Selection of primers for detection of A to G mutation at nucleotide 3243 of the mitochondrial gene." Diabetologia 38(3):377-378.

Odawara, M. and Yamashita, K. (1997). "Mutation at nucleotide position 3243 of the mitochondrial DNA as a cause of IDDM - a meta-analysis [letter; comment]." Diabetologia 40(12):1493-1496.

Odawara, M. and Yamashita, K. (1999). "Mitochondrial DNA abnormalities in hypertrophic cardiomyopathy [letter]." Lancet 353(9147):150.

Odeleye, O. E., Eskelson, C. D., Mufti, S. I. and Watson, R. R. (1992). "Vitamin E protection against nitrosamine-induced esophageal tumor incidence in mice immunocompromised by retroviral infection." Carcinogenesis 13(10):1811-1816.

O'Donovan, M. C., Oefner, P. J., Roberts, S. C., Austin, J., Hoogendoorn, B., Guy, C., Speight, G., Upadhyaya, M., Sommer, S. S. and McGuffin, P. (1998). "Blind analysis of denaturing high-performance liquid chromatography as a tool for mutation detection." Genomics 52(1):44-49.

Ogilvie, I., Wilkens, S., Rodgers, A. J., Aggeler, R. and Capaldi, R. A. (1998). "The second stalk: the delta-b subunit connection in ECF1F0." Acta Physiologica Scandinavica. Supplementum 643:169-175.

Ogle, R. F., Christodoulou, J., Fagan, E., Blok, R. B., Kirby, D. M., Seller, K. L., Dahl, H. H. and Thorburn, D. R. (1997). "Mitochondrial myopathy with tRNA(Leu(UUR)) mutation and complex I deficiency responsive to riboflavin." Journal of Pediatrics 130(1):138-145.

O'Gorman, S., Dagenais, N. A., Qian, M. and Marchuk, Y. (1997). "Protamine-Cre recombinase transgenes efficiently recombine target sequences in the male germ line of mice, but not in embryonic stem cells." Proceedings of the National Academy of Sciences of the United States of America 94(26):14602-14607.

Ohama, E., Ohara, S., Ikuta, F., Tanaka, K., Nishizawa, M. and Miyatake, T. (1987). "Mitochondrial angiopathy in cerebral blood vessels of mitochondrial encephalomyopathy." Acta Neuropathologica (Berlin) 74(3):226-233.

Ohkoshi, N., Mizusawa, H., Shiraiwa, N., Shoji, S., Harada, K. and Yoshizawa, K. (1995). "Superoxide dismutases of muscle in mitochondrial encephalomyopathies." Muscle and Nerve 18(11):1265-1271.

Ohnishi, T. (1979). Mitochondrial iron-sulfur flavohydrogenases. New York, Dekker.

Ohnishi, T., Leigh, J. S., Ragan, C. I. and Racker, E. (1974). "Low temperature electron paramagnetic resonance studies on iron centers in cardiac NADH dehydrogenase." Biochem Biophys Res Commun 56:775-782.

Ohnishi, T., Ragan, C. I. and Hatefi, Y. (1985). "EPR studies of iron-sulfur clusters in isolated subunits and subfractions of NADH-ubiquinone oxidoreductase." Journal of Biological Chemistry 260:2782-2788.

Ohno, K., Tanaka, M., Sahashi, K., Ibi, T., Sato, W., Yamamoto, T., Takahashi, A. and Ozawa, T. (1991). "Mitochondrial DNA deletions in inherited recurrent myoglobinuria." Annals of Neurology 29:364-369.

Ohno, K., Tanaka, M., Suzuki, H., Ohbayashi, T., Ikebe, S.-I., Ino, H., Kumar, S., Takahashi, A. and Ozawa, T. (1991). "Identification of a possible control element, Mt5, in the major noncoding region of mitochondrial DNA by intraspecific nucleotide conservation." Biochemistry International 24:263-272.

Ohta, S., Goto, K., Arai, H. and Kagawa, Y. (1987). "An extremely acidic amino-terminal presequence of the precursor for the human mitochondrial hinge protein." FEBS Letters 226(1):171-175.

Ohta, S. and Kagawa, Y. (1986). "Human F1-ATPase: molecular cloning of cDNA for the beta subunit." Journal of Biochemistry (Tokyo) 99(1):135-141.

Ohta, S., Tomura, H., Matsuda, K. and Kagawa, Y. (1988). "Gene structure of the human mitochondrial adenosine triphosphate synthase beta subunit." Journal of Biological Chemistry 263(23):11257-11262.

Ohtsuka, Y., Amano, R., Oka, E. and Ohtahara, S. (1993). "Myoclonus epilepsy with ragged-red fibers: a clinical and electrophysiologic follow-up study on two sibling cases." Journal of Child Neurology 8(4):366-372.

Ojaimi, J., Katsabanis, S., Bower, S., Quigley, A. and Byrne, E. (1998). "Mitochondrial DNA in stroke and migraine with aura." Cerebrovascular Diseases 8(2):102-106.

Ojala, D., Crews, S., Montoya, J., Gelfand, R. and Attardi, G. (1981). "A small polydenylated RNA (7S RNA), containing a putative ribosome attachment site, maps near the origin of human mitochondrial DNA replication." Journal of Molecular Biology 150:303-314.

Ojala, D., Montoya, J. and Attardi, G. (1981). "tRNA punctuation model of RNA processing in human mitochondria." Nature 290:470-474.

Oka, Y. (1994). "NIDDM--genetic marker; glucose transporter, glucokinase, and mitochondria gene." Diabetes Research and Clinical Practice 24(21):S117-121.

Oka, Y. (1997). "Symposium on gene abnormalities in medical diseases. 2. Genetic defects and diabetes mellitus-defects of glucokinase gene and mitochondrial gene in diabetic patients." Internal Medicine 36(2):150-151.

Oka, Y., Katagiri, H., Ishihara, H., Asano, T., Kikuchi, M. and Kobayashi, T. (1995). "Mitochondrial diabetes mellitus--glucose-induced signaling defects and beta-cell loss." Muscle and Nerve 3(6):S131-136.

Oka, Y., Katagiri, H., Yazaki, Y., Murase, T. and Kobayashi, T. (1993). "Mitochondrial gene mutation in islet-cell-antibody-positive patients who were initially non-insulin-dependent diabetics." Lancet 342:527-528.

Okayama, H. and Berg, P. (1983). "A cDNA cloning vector that permits expression of cDNA inserts in mammalian cells." Molecular & Cellular Biology 3(2):280-289.

Oldfors, A., Larsson, N.-G., Holme, E., Tulinius, M., Kadenbach, B. and Droste, M. (1992). "Mitochondrial DNA deletions and cytochrome c oxidase deficiency in muscle fibres." Journal of the Neurological Sciences 110:169-177.

Oldfors, A., Larsson, N. G., Lindberg, C. and Holme, E. (1993). "Mitochondrial DNA deletions in inclusion body myositis." Brain 116:325-336.

Oldfors, A., Moslemi, A. R., Fyhr, I. M., Holme, E., Larsson, N. G. and Lindberg, C. (1995). "Mitochondrial DNA deletions in muscle fibers in inclusion body myositis." Journal of Neuropathology and Experimental Neurology 54(4):581-587.

Oliver, C. N., Starke-Reed, P. E., Stadtman, E. R., Liu, G. J., Carney, J. M. and Floyd, R. A. (1990). "Oxidative damage to brain proteins, loss of glutamine synthetase activity, and production of free radicals during ischemia/reperfusion-induced injury to gerbil brain." Proceedings of the National Academy of Sciences of the United States of America 87(13):5144-5147.

Oliver, N. A., Greenberg, B. D. and Wallace, D. C. (1983). "Assignment of a polymorphic polipeptide to the human mitochondrial DNA unidentified reading frame 3 gene by a new peptide mapping strategy." Journal of Biological Chemistry 258(9):5834-5839.

Oliver, N. A., McCarthy, J. and Wallace, D. C. (1984). "Comparison of mitochondrially synthesized polypeptides of human, mouse, and monkey cell lines by a two-dimensional protease gel system." Somatic Cell and Molecular Genetics 10(6):639-643.

Oliver, N. A. and Wallace, D. C. (1982). "Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction." Molecular and Cellular Biology 2(1):30-41.

Olsen, N. K., Hansen, A. W., Norby, S., Edal, A. L., Jorgensen, J. R. and Rosenberg, T. (1995). "Leber's hereditary optic neuropathy associated with a disorder indistinguishable from multiple sclerosis in a male harbouring the mitochondrial DNA 11778 mutation." Acta Neurologica Scandinavica 91(5):326-329.

Olsson, C., Zethelius, B., Lagerstrom-Fermer, M., Asplund, J., Berne, C. and Landegren, U. (1998). "Level of heteroplasmy for the mitochondrial mutation A3243G correlates with age at onset of diabetes and deafness." Human Mutation 12(1):52-58.

Oltvai, Z. N., Milliman, C. L. and Korsmeyer, S. J. (1993). "Bcl-2 heterodimerizes in vivo with a conserved homolog, Bax, that accelerates programmed cell death." Cell 74(4):609-619.

OMIM 516030 (1999). Complex IV, cytochrome c oxidase subunit I, OMIM Number 516030. On-line Mendelian Inheritance in ManTM. McKusick, V. Baltimore, MD, Johns Hopkins University.

Onishi, H., Hanihara, T., Sugiyama, N., Kawanishi, C., Iseki, E., Maruyama, Y., Yamada, Y., Kosaka, K., Yagishita, S., Sekihara, H. and Satoh, S. (1998). "Pancreatic exocrine dysfunction associated with mitochondrial tRNA(Leu)(UUR) mutation." Journal of Medical Genetics 35(3):255-257.

Onishi, H., Inoue, K., Osaka, H., Kimura, S., Nagatomo, H., Hanihara, T., Kawamoto, S., Okuda, K., Yamada, Y. and Kosaka, K. (1993). "Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) and diabetes mellitus: molecular genetic analysis and family study." Journal of the Neurological Sciences 114:05-08.

Onishi, H., Kawanishi, C., Iwasawa, T., Osaka, H., Hanihara, T., Inoue, K., Yamada, Y. and Kosaka, K. (1997). "Depressive disorder due to mitochondrial transfer RNALeu(UUR) mutation." Biological Psychiatry 41(11):1137-1139.

Oostra, R. J., Bolhuis, P. A., Wijburg, F. A., Zorn-Ende, G. and Bleeker-Wagemakers, E. M. (1994). "Leber's hereditary optic neuropathy: correlations between mitochondrial genotype and visual outcome." Journal of Medical Genetics 31(4):280-286.

Oostra, R. J., Bolhuis, P. A., Zorn-Ende, I., de Kok-Nazaruk, M. M. and Bleeker-Wagemakers, E. M. (1994). "Leber's hereditary optic neuropathy: no significant evidence for primary or secondary pathogenicity of the 15257 mutation." Human Genetics 94(3):265-270.

Oostra, R. J., Tijmes, N. T., Cobben, J. M., Bolhuis, P. A., van Nesselrooij, B. P., Houtman, W. A., de Kok-Nazaruk, M. M. and Bleeker-Wagemakers, E. M. (1997). "On the many faces of Leber hereditary optic neuropathy." Clinical Genetics 51(6):388-393.

Oostra, R. J., Van den Bogert, C., Nijtmans, L. G., van Galen, M. J., Zwart, R., Bolhuis, P. A. and Bleeker-Wagemakers, E. M. (1995). "Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy: molecular, biochemical, and clinical findings [letter]." American Journal of Human Genetics 57(4):954-957.

Oostra, R. J., Van Galen, M. J., Bolhuis, P. A., Bleeker-Wagemakers, E. M. and Van den Bogert, C. (1995). "The mitochondrial DNA mutation ND6/14484C associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain." Biochemical and Biophysical Research Communications 215(3):1001-1005.

Opdal, S. H., Rognum, T. O., Torgersen, H. and Vege, A. (1999). "Mitochondrial DNA point mutations detected in four cases of sudden infant death syndrome." Acta Paediatrica 88(9):957-960.

Opdal, S. H., Rognum, T. O., Vege, A., Stave, A. K., Dupuy, B. M. and Egeland, T. (1998). "Increased number of substitutions in the D-loop of mitochondrial DNA in the sudden infant death syndrome." Acta Paediatrica 87(10):1039-1044.

Opdal, S. H., Vege, A., Egeland, T., Musse, M. A. and Rognum, T. O. (2002). "Possible role of mtDNA mutations in sudden infant death." Pediatric Neurology 27(1):23-29.

Orekhov, V., Poltoraus, A., Zhivotovsky, L. A., Spitsyn, V., Ivanov, P. and Yankovsky, N. (1999). "Mitochondrial DNA sequence diversity in Russians." FEBS Letters 445(1):197-201.

Orr, W. C. and Sohal, R. S. (1994). "Extension of life-span by overexpression of superoxide dismutase and catalase in Drosophila melanogaster." Science 263(5150):1128-1130.

Ortiz, R. G., Newman, N. J., Manoukian, S. V., Diesenhouse, M. C., Lott, M. T. and Wallace, D. C. (1992). "Optic disk cupping and electrocardiographic abnormalities in an American pedigree with Leber's hereditary optic neuropathy." American Journal of Ophthalmology 113(5):561-566.

Ortiz, R. G., Newman, N. J., Shoffner, J. M., Kaufman, A. E., Koontz, D. A. and Wallace, D. C. (1993). "Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation." Archives of Ophthalmology 111(11):1525-1530.

Orum, H., Nielsen, P. E., Egholm, M., Berg, R. H., Buchardt, O. and Stanley, C. (1993). "Single base pair mutation analysis by PNA directed PCR clamping." Nucleic Acids Research 21(23):5332-5336.

Osako, M. and Keltner, J. L. (1991). "Botulinum A toxin (Oculinum) in ophthalmology." Survey of Ophthalmology 36(1):28-46.

Osiewacz, H. D. and Hamann, A. (1997). "DNA reorganization and biological aging. A review." Biochemistry 62(11):1275-1284.

Ota, Y., Miyake, Y., Awaya, S., Kumagai, T., Tanaka, M. and Ozawa, T. (1994). "Early retinal involvement in mitochondrial myopathy with mitochondrial DNA deletion." Retina 14(3):270-276.

Ota, Y., Tanaka, M., Sato, W., Ohno, K., Yamamoto, T., Maehara, M., Negoro, T., Watanabe, K., Awaya, S. and Ozawa, T. (1991). "Detection of platelet mitochondrial DNA deletions in Kearns-Sayre syndrome." Investigative Ophthalmology and Visual Science 32:2667-2675.

Otabe, S., Sakura, H., Shimokawa, K., Mori, Y., Kadowaki, H., Yasuda, K., Nonaka, K., Hagura, R., Akanuma, Y., Yazaki, Y. and Kadowaki, T. (1994). "The high prevalence of the diabetic patients with a mutation in the mitochondrial gene in Japan." Journal of Clinical Endocrinology and Metabolism 79(3):768-771.

Otabe, S., Yasuda, K., Mori, Y., Shimokawa, K., Kadowaki, H., Jimi, A., Nonaka, K., Akanuma, Y., Yazaki, Y. and Kadowaki, T. (1999). "Molecular and histological evaluation of pancreata from patients with a mitochondrial gene mutation associated with impaired insulin secretion." Biochemical & Biophysical Research Communications 259(1):149-156.

Otsuga, D., Keegan, B. R., Brisch, E., Thatcher, J. W., Hermann, G. J., Bleazard, W. and Shaw, J. M. (1998). "The dynamin-related GTPase, Dnm1p, controls mitochondrial morphology in yeast." Journal of Cell Biology 143(2):333-349.

Otsuka, M., Mizuno, Y., Yoshida, M., Kagawa, Y. and Ohta, S. (1988). "Nucleotide sequence of cDNA encoding human cytochrome c oxidase subunit VIc." Nucleic Acids Research 16(22):10916.

Otsuka, M., Niijima, K., Mizuno, Y., Yoshida, M., Kagawa, Y. and Ohta, S. (1990). "Marked decrease of mitochondrial DNA with multiple deletions in a patient with familial mitochondrial myopathy." Biochemical and Biophysical Research Communications 167:680-685.

Ottman, R., Annegers, J. F., Hauser, W. A. and Kurland, L. T. (1988). "Higher risk of seizures in offspring of mothers than of fathers with epilepsy." American Journal of Human Genetics 43(3):257-264.

Ottman, R., Hauser, W. A. and Susser, M. (1985). "Genetic and maternal influences on susceptibility to seizures. An analytic review." American Journal of Epidemiololgy 122(6):923-939.

Otulakowski, G. and Robinson, B. H. (1987). "Isolation and sequence determination of cDNA clones for porcine and human lipoamide dehydrogenase. Homology to other disulfide oxidoreductases." Journal of Biological Chemistry 262(36):17313-17318.

Oudshoorn, P., VanSteeg, H., Swinkels, B. W., Schoppink, P. and Grivell, L. A. (1987). "Subunit II of yeast QH2:cytochrome-c oxidoreductase. Nucleotide sequence of the gene and features of the protein." European Journal of Biochemistry 163:97-103.

Ovchinnikov, I. V., Götherström, A., Romanova, G. P., Kharitonov, V. M., Lidén, K. and Goodwin, W. (2000). "Molecular analysis of Neanderthal DNA from the northern Caucasus." Nature 404(6777):490-493.

Ozawa, M., Nishino, I., Horai, S., Nonaka, I. and Goto, Y. I. (1997). "Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families [see comments]." Muscle & Nerve 20(3):271-278.

Ozawa, M., Nonaka, I. and Goto, Y. (1998). "Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome." Journal of the Neurological Sciences 159(2):170-175.

Ozawa, T. (1995). "Mechanism of somatic mitochondrial DNA mutations associated with age and diseases." Biochimica et Biophysica Acta 1271(1):177-189.

Ozawa, T. (1997). "Genetic and functional changes in mitochondria associated with aging." Physiological Reviews 77(2):425-464.

Ozawa, T. (1997). "Oxidative damage and fragmentation of mitochondrial DNA in cellular apoptosis." Bioscience Reports 17(3):237-250.

Ozawa, T. (1998). "Mitochondrial DNA mutations and age." Annals of the New York Academy of Sciences 854:128-154.

Ozawa, T., Hayakawa, M., Katsumata, K., Yoneda, M., Ikebe, S. and Mizuno, Y. (1997). "Fragile mitochondrial DNA: the missing link in the apoptotic neuronal cell death in Parkinson's disease." Biochemical & Biophysical Research Communications 235(1):158-161.

Ozawa, T., Katsumata, K., Hayakawa, M., Tanaka, M., Sugiyama, S., Tanaka, T., Itoyama, S., Nunoda, S. and Sekiguchi, M. (1995). "Genotype and phenotype of severe mitochondrial cardiomyopathy: a recipient of heart transplantation and the genetic control." Biochemical and Biophysical Research Communications 207(2):613-620.

Ozawa, T., Sahashi, K., Nakase, Y. and Chance, B. (1995). "Extensive tissue oxygenation associated with mitochondrial DNA mutations." Biochemical and Biophysical Research Communications 213(2):432-438.

Ozawa, T., Sugiyama, S., Tanaka, M. and Hattori, K. (1991). "Mitochondrial DNA mutations and disturbances of energy metabolism in myocardium." Japanese Circulation Journal 55:1158.

Ozawa, T., Tanaka, M., Ikebe, S., Ohno, K., Kondo, T. and Mizuno, Y. (1990). "Quantitative determination of deleted mitochondrial DNA relative to normal DNA in parkinsonian striatum by a kinetic PCR analysis." Biochemical and Biophysical Research Communications 172:483-489.

Ozawa, T., Tanaka, M., Ino, H., Ohno, K., Sano, T., Wada, Y., Yoneda, M., Tanno, Y., Miyatake, T., Tanaka, T., Itoyama, S., Ikebe, S., Hattori, N. and Mizuno, Y. (1991). "Distinct clustering of point mutations in mitochondrial DNA among patients with mitochondrial encephalomyopathies and with Parkinson's disease." Biochemical and Biophysical Research Communications 176(2):938-946.

Ozawa, T., Tanaka, M., Sugiyama, S., Hattori, K., Ito, T., Ohno, K., Takahashi, A., Sato, W., Takada, G., Mayumi, B., Yamamoto, K., Adachi, K., Koga, Y. and Toshima, H. (1990). "Multiple mitochondrial DNA deletions exist in cardiomyocytes of patients with hypertrophic or dilated cardiomyopathy." Biochemical and Biophysical Research Communications 170:830-836.

Ozawa, T., Tanaka, M., Sugiyama, S., Ino, H., Ohno, K., Hattori, K., Ohbayashi, T., Ito, T., Deguchi, H., Kawamura, K., Nakane, Y. and Hashiba, K. (1991). "Patients with idiopathic cardiomyopathy belong to the same mitochondrial DNA gene family of Parkinson's disease and mitochondrial encephalomyopathy." Biochemical and Biophysical Research Communications 177(1):518-525.

Ozawa, T., Yoneda, M., Tanaka, M., Ohno, K., Sato, W., Suzuki, H., Nishikimi, M., Yamamoto, M., Nonaka, I. and Horai, S. (1988). "Maternal inheritance of deleted mitochondrial DNA in a family with mitochondrial myopathy." Biochemical and Biophysical Research Communications 154:1240-1247.

Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., de Leon, D., Brin, M. F., Raymond, D., Corey, D. P., Fahn, S., Risch, N. J., Buckler, A. J., Gusella, J. F. and Breakefield, X. O. (1997). "The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein." Nature Genetics 17(1):40-48.

Ozelius, L. J., Hewett, J. W., Page, C. E., Bressman, S. B., Kramer, P. L., Shalish, C., de Leon, D., Brin, M. F., Raymond, D., Jacoby, D., Penney, J., Risch, N. J., Fahn, S., Gusella, J. F. and Breakefield, X. O. (1998). "The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family." Advances in Neurology 78:93-105.

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Paabo, S. (1985). "Molecular cloning of ancient Egyptian mummy DNA." Nature 1314(6012):644-645.

Paabo, S. (1989). "Ancient DNA: extraction, characterization, molecular cloning, and enzymatic amplification." Proceedings of the National Academy of Sciences of the United States of America 86(6):1939-1943.

Paabo, S., Gifford, J. A. and Wilson, A. C. (1988). "Mitochondrial DNA sequences from a 7000-year old brain." Nucleic Acids Research 16(20):9775-9787.

Paabo, S., Higuchi, R. G. and Wilson, A. C. (1989). "Ancient DNA and the polymerase chain reaction." Journal of Biological Chemistry 264(17):9709-9712.

Pai, C. Y., Chou, S. L., Tang, T. K., Wei, Y. H. and Yang, C. H. (1997). "Haplotyping of mitochondrial DNA in the D-loop region by PCR: forensic application." Journal of the Formosan Medical Association 96(2):73-82.

Palamara, A. T., Garaci, E., Rotilio, G., Ciriolo, M. R., Casabianca, A., Fraternale, A., Rossi, L., Schiavano, G. F., Chiarantini, L. and Magnani, M. (1996). "Inhibition of murine AIDS by reduced glutathione." AIDS Research and Human Retroviruses 12(14):1373-1381.

Palmer, D. N., Fearnley, I. M., Medd, S. M., Walker, J. E., Martinus, R. D., Bayliss, S. L., Hall, N. A., Lake, B. D., Wolfe, L. S. and Jolly, R. D. (1990). "Lysosomal storage of the DCCD reactive proteolipid subunit of mitochondrial ATP synthase in human and ovine ceroid lipfuscinoses." In Lipofuscin and Ceroid Pigments: 211; New York, Plenum Press. Porta, E. A., Ed.

Palmer, G. (1993). "Current issues in the chemistry of cytochrome c oxidase." Journal of Bioenergetics and Biomembranes 25:145-151.

Pandarpurkar, M., Wilson-Fritch, L., Corvera, S., Markholst, H., Hornum, L., Greiner, D. L., Mordes, J. P., Rossini, A. A. and Bortell, R. (2003). "Ian4 is required for mitochondrial integrity and T cell survival." Proceedings of the National Academy of Sciences of the United States of America 100(18):10382-10387.

Pandya, A., Xia, X., Radnaabazar, J., Batsuuri, J., Dangaansuren, B., Fischel-Ghodsian, N. and Nance, W. E. (1997). "Mutation in the mitochondrial 12S rRNA gene in two families from Mongolia with matrilineal aminoglycoside ototoxicity." Journal of Medical Genetics 34(2):169-172.

Pang, C. Y., Huang, C. C., Yen, M. Y., Wang, E. K., Kao, K. P., Chen, S. S. and Wei, Y. H. (1999). "Molecular epidemiologic study of mitochondrial DNA mutations in patients with mitochondrial diseases in Taiwan." Journal of the Formosan Medical Association 98(5):326-334.

Pang, C. Y., Lee, H. C., Yang, J. H. and Wei, Y. H. (1994). "Human skin mitochondrial DNA deletions associated with light exposure." Archives of Biochemistry and Biophysics 312(2):534-538.

Panov, A. V., Filippova, S. N. and Liakhovich, I. (1979). "[Mechanism of non-phosphorylative effects of ADP on mitochondrial functions]." Biokhimiia 44(10):1738-1746.

Papadimitriou, A., Comi, G. P., Hadjigeorgiou, G. M., Bordoni, A., Sciacco, M., Napoli, L., Prelle, A., Moggio, M., Fagiolari, G., Bresolin, N., Salani, S., Anastasopoulos, I., Giassakis, G., Divari, R. and Scarlato, G. (1998). "Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome." Neurology 51(4):1086-1092.

Papadopoulou, L. C., Sue, C. M., Davidson, M. M., Tanji, K., Nishino, I., et al. (1999). "Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene." Nature Genetics 23(3):333-337.

Papiha, S. S., Rathod, H., Briceno, I., Pooley, J. and Datta, H. K. (1998). "Age related somatic mitochondrial DNA deletions in bone." Journal of Clinical Pathology 51(2):117-120.

Paquis-Flucklinger, V., Pellissier, J., F., Camboulives, J., Chabrol, B., Saunieres, A., Monfort, M. F., Giudicelli, H. and Desnuelle, C. (1995). "Early-onset fatal encephalomyopathy associated with severe mtDNA depletion." European Journal of Pediatrics 154(7):557-562.

Paquis-Flucklinger, V., Vialettes, B., Canivet, B., Freychet, P., Hieronimus, S., Vague, P., Saunieres, A. and Desnuelle, C. (1997). "[Detection and prevalence of mitochondrial genome mutations in diabetes]." Journees Annuelles de Diabetologie de l Hotel-Dieu:25-31.

Paquis-Flucklinger, V., Vialettes, B., Vague, P., Canivet, B., Hieronimus, S., Oliver, C., Pellissier, J. F., Saunieres, A. and Desnuelle, C. (1998). "Importance of searching for mtDNA defects in patients with diabetes and hearing deficit [letter]." Diabetologia 41(6):740-741.

Parfait, B., Percheron, A., Chretien, D., Rustin, P., Munnich, A. and Rotig, A. (1997). "No mitochondrial cytochrome oxidase (COX) gene mutations in 18 cases of COX deficiency." Human Genetics 101(2):247-250.

Parfait, B., Rustin, P., Munnich, A. and Rotig, A. (1998). "Co-amplification of nuclear pseudogenes and assessment of heteroplasmy of mitochondrial DNA mutations." Biochemical & Biophysical Research Communications 247(1):57-59.

Parisi, M. A. and Clayton, D. A. (1991). "Similarity of human mitochondrial transcription factor 1 to high mobility group proteins." Science 252(5008):965-969.

Parker, J. O., Amies, M. H., Hawkinson, R. W., Heilman, J. M., Hougham, A. J., Vollmer, M. C. and Wilson, R. R. (1995). "Intermittent transdermal nitroglycerin therapy in angina pectoris. Clinically effective without tolerance or rebound. Minitran Efficacy Study Group." Circulation 91(5):1368-1374.

Parker, W. D., Jr., Boyson, S. J., Luder, A. S. and Parks, J. K. (1990). "Evidence for a defect in NADH: ubiquinone oxidoreductase (complex I) in Huntington's disease." Neurology 40:1231-1234.

Parker, W. D., Jr., Boyson, S. J. and Parks, J. K. (1989). "Abnormalities of the electron transport chain in idiopathic Parkinson's disease." Annals of Neurology 26:719-723.

Parker, W. D., Jr., Filley, C. M. and Parks, J. K. (1990). "Cytochrome oxidase deficiency in Alzheimer's disease." Neurology 40:1302-1303.

Parker, W. D., Jr., Oley, C. A. and Parks, J. K. (1989). "A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy." New England Journal of Medicine 320(20):1331-1333.

Parker, W. D., Jr. and Swerdlow, R. H. (1998). "Mitochondrial dysfunction in idiopathic Parkinson disease." American Journal of Human Genetics 62(4):758-762.

Parker, W. D. J., Oley, C. A. and Parks, J. K. (1989). "A defect in mitochondrial electron-transport activity (NADH-coenzyme Q oxidoreductase) in Leber's hereditary optic neuropathy." New England Journal of Medicine 320(20):1331-1333.

Parkes, T. L., Elia, A. J., Dickinson, D., Hilliker, A. J., Phillips, J. P. and Boulianne, G. L. (1998). "Extension of Drosophila lifespan by overexpression of human SOD1 in motorneurons." Nature Genetics 19(2):171-174.

Parr, R. L., Carlyle, S. W. and O'Rourke, D. H. (1996). "Ancient DNA analysis of Fremont Amerindians of the Great Salt Lake Wetlands." American Journal of Physical Anthropology 99(4):507-518.

Partridge, T. A. (1991). "Invited review: myoblast transfer: a possible therapy for inherited myopathies?" Muscle & Nerve 14(3):197-212.

Pascucci, B., Versteegh, A., van Hoffen, A., van Zeeland, A. A., Mullenders, L. H. and Dogliotti, E. (1997). "DNA repair of UV photoproducts and mutagenesis in human mitochondrial DNA." Journal of Molecular Biology 273(2):417-427.

Passarino, G., Semino, O., Bernini, L. F. and Santachiara-Benerecetti, A. S. (1996). "Pre-Caucasoid and Caucasoid genetic features of the Indian population, revealed by mtDNA polymorphisms." American Journal of Human Genetics 59(4):927-934.

Passarino, G., Semino, O., Modiano, G. and Santachiara-Benerecetti, A. S. (1993). "COII / tRNALys intergenic 9-bp deletion and other mtDNA markers clearly reveal that the Tharus (Southern Nepal) have oriental affinities." American Journal of Human Genetics 53:609-618.

Passarino, G., Semino, O., Pepe, G., Shrestha, S. L., Modiano, G. and Santachiara-Benerecetti, A. S. (1992). "MtDNA polymorphisms among Tharus of Eastern Terai (Nepal)." Gene Geography 6(3):139-147.

Passarino, G., Semino, O., Quintana-Murci, L., Excoffier, L., Hammer, M. and Santachiara-Benerecetti, A. S. (1998). "Different genetic components in the Ethiopian population, identified by mtDNA and Y-chromosome polymorphisms." American Journal of Human Genetics 62(2):420-434.

Pastores, G. M., Santorelli, F. M., Shanske, S., Gelb, B. D., Fyfe, B., Wolfe, D. and Willner, J. P. (1994). "Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)." American Journal of Medical Genetics 50(3):265-271.

Pastorino, J. G., Marcineviciute, A., Cahill, A. and Hoek, J. B. (1999). "Potentiation by chronic ethanol treatment of the mitochondrial permeability transition." Biochemical and Biophysical Research Communications 265(2):405-409.

Pata, I., Tensing, K. and Metspalu, A. (1997). "A human cDNA encoding the homologue of NADH: ubiquinone oxidoreductase subunit B13." Biochimica et Biophysica Acta 1350(2):115-118.

Patel, M. (1998). "Inhibition of neuronal apoptosis by a metalloporphyrin superoxide dismutase mimic." Journal of Neurochemistry 71(3):1068-1074.

Patel, M., Day, B. J., Crapo, J. D., Fridovich, I. and McNamara, J. O. (1996). "Requirement for superoxide in excitotoxic cell death." Neuron 16(2):345-355.

Paulus, W., Straube, A., Bauer, W. and Harding, A., E. (1993). "Central nervous system involvement in Leber's optic neuropathy." Journal of Neurology 240:251-253.

Pautot, V., Macaigne, C. and Chariot, P. (1998). "[Mitochondrial DNA and Parkinson disease. Methodologic review]." Archives d Anatomie et de Cytologie Pathologiques 46(4):261-268.

Pavlakis, S. G., Phillips, P. C., DiMauro, S., De Vivo, D. C. and Rowland, L. P. (1984). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: a distinctive clinical syndrome." Annals of Neurology 16(4):481-488.

Pavlath, G. K., Rich, K., Webster, S. G. and Blau, H. M. (1989). "Localization of muscle gene products in nuclear domains." Nature 337(6207):570-573.

Payami, H. and Zareparsi, S. (1998). "Genetic epidemiology of Parkinson's disease." Journal of Geriatric Psychiatry & Neurology 11(2):98-106.

Pear, W. S., Nolan, G. P., Scott, M. L. and Baltimore, D. (1993). "Production of high-titer helper-free retroviruses by transient transfection." Proceedings of the National Academy of Sciences of the United States of America 90(18):8392-8396.

Pearson, H. A., Lobel, J. S., Kocoshis, S. A., Naiman, J. L., Windmiller, J., Lammi, A. T., Hoffman, R. and Marsh, J. C. (1979). "A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic function." Journal of Pediatrics 95(6):976.

Pedersen, P. L. (1993). "An introduction to the mitochondrial anion carrier family." Journal of Bioenergetics and Biomembranes 25(5):431-434.

Pegoraro, E., Carelli, V., Zeviani, M., Cortelli, P., Montagna, P., Barboni, P., Angelini, C. and Hoffman, E. P. (1996). "X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant." American Journal of Medical Genetics 61(4):356-362.

top of page

Peltz, S. W., He, F., Welch, E. and Jacobson, A. (1994). "Nonsense-mediated mRNA decay in yeast." Progress in Nucleic Acid Research & Molecular Biology 47:271-298.

Penisson-Besnier, I., Degoul, F., Desnuelle, C., Dubas, F., Josi, K., Emile, J. and Lestienne, P. (1992). "Uneven distribution of mitochondrial DNA mutation in MERRF dizygotic twins." Journal of the Neurological Sciences 110(1-2):144-148.

Penisson-Besnier, I., Reynier, P., Asfar, P., Douay, O., Sortais, A., Dubas, F., Emile, J. and Malthiery, Y. (2000). "Recurrent brain hematomas in MELAS associated with an ND5 gene mitochondrial mutation." Neurology 55(2):317-318.

Penn, A. M. W., Lee, J. W. K., Thuillier, P., Wagner, M., Maclure, K. M., Menard, M. R., Hall, L. D. and Kennaway, N. G. (1992). "MELAS syndrome with mitochondrial tRNALeu(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin." Neurology 42:2147-2152.

Pennacchio, L. A., Bergmann, A., Fukushima, A., Okubo, K., Salemi, A. and Lennon, G. G. (1995). "Structure, sequence and location of the UQCRFS1 gene for the human Rieske Fe-S protein." Gene 155(2):207-211.

Perez-Atayde, A. R., Fox, V., Teitelbaum, J. E., Anthony, D. A., Fadic, R., Kalsner, L., Rivkin, M., Johns, D. R. and Cox, G. F. (1998). "Mitochondrial neurogastrointestinal encephalomyopathy: diagnosis by rectal biopsy." American Journal of Surgical Pathology 22(9):1141-1147.

Perez-Lezaun, A., Calafell, F., Seielstad, M., Mateu, E., Comas, D., Bosch, E. and Bertranpetit, J. (1997)."Population genetics of Y-chromosome short tandem repeats in humans." Journal of Molecular Evolution 45(3):265-270.

Pericak-Vance, M. A., Bebout, J. L., Gaskell, P. C. J., Yamaoka, L. H., Hung, W.-Y., Alberts, M. J., Walker, A. P., Bartlett, R. J., Haynes, C. A., Welsh, K. A., Earl, N. L., Heyman, A., Clark, C. M. and Roses, A. D. (1991)."Linkage studies in familial Alzheimer disease: evidence for chromosome 19 linkage." American Journal of Human Genetics 48(6):1034-1050.

Perier, F., Radeke, C. M., Raab-Graham, K. F. and Vandenberg, C. A. (1995)."Expression of a putative ATPase suppresses the growth defect of a yeast potassium transport mutant: identification of a mammalian member of the Clp/HSP104 family." Gene 152(2):157-163.

Perlick, H. A., Medghalchi, S. M., Spencer, F. A., Kendzior, R. J., Jr. and Dietz, H. C. (1996)."Mammalian orthologues of a yeast regulator of nonsense transcript stability." Proceedings of the National Academy of Sciences of the United States of America 93(20):10928-10932.

Peroutka, S. J. (1998)."Genetic basis of migraine." Clinical Neuroscience 5(1):34-37.

Persichetti, F., Blasi, P., Hammer, M., Malaspina, P., Jodice, C., Terrenation, L. and Novelletto, A. (1992)."Disequilibrium of multiple DNA markers on the human Y chromosome." Annals of Human Genetics 56(Pt 4):303-310.

Perucca-Lostanlen, D., Taylor, R.W., Narbonne, H., Mousson de Camaret, B., Hayes, C.M., Saunieres, A., Paquis-Flucklinger, V., Turnbull, D.M., Vialettes, B. and Desnuelle, C. (2002). "Molecular and functional effects of the T14709C point mutation in the mitochondrial DNA of a patient with maternally inherited diabetes and deafness." Biochimica et Biophysica Acta 1588(3):210-216.

Peterson, C. and Goldman, J. E. (1986). "Alterations in calcium content and biochemical processes in cultured skin fibroblasts from aged and Alzheimer donors." Proceedings of the National Academy of Sciences of the United States of America 83:2758-2762.

Petit, P. X., Susin, S. A., Zamzami, N., Mignotte, B. and Kroemer, G. (1996). "Mitochondria and programmed cell death: back to the future." FEBS Letters 396(1):7-13.

Petruzzella, V., Chen, X. and Schon, E. A. (1992). "Is a point mutation in the mitochondrial ND2 gene associated with Alzheimer's disease?" Biochemical and Biophysical Research Communications 186:491-497.

Petruzzella, V., Moraes, C. T., Sano, M. C., Bonilla, E., DiMauro, S. and Schon, E. A. (1994). "Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243." Human Molecular Genetics 3(3):449-454.

Pettepher, C. C., LeDoux, S. P., Bohr, V. A. and Wilson, G. L. (1991). "Repair of alkali-labile sites within the mitochondrial DNA of RINr 38 cells after exposure to the nitrosourea streptozotocin." Journal of Biological Chemistry 266(5):3113-3117.

Pesce, V., Cormio, A., Fracasso, F., Vecchiet, J., Felzani, G., Lezza, A. M., Cantatore, P. and Gadaleta, M. N. (2001). "Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscle." Free Radical Biology and Medicine 30(11):1223-1233.

Pesce, V., Cormio, A., Marangi, L. C., Guglielmi, F. W., Lezza, A. M., Francavilla, A., Cantatore, P. and Gadaleta, M. N. (2002). "Depletion of mitochondrial DNA in the skeletal muscle of two cirrhotic patients with severe asthenia." Gene 286(1):143-148.

Pezzi, P. P., De Negri, A. M., Sadun, F., Carelli, V. and Leuzzi, V. (1998). "Childhood Leber's hereditary optic neuropathy (ND1/3460) with visual recovery." Pediatric Neurology 19(4):308-312.

Pfanner, N. and Neupert, W. (1990). "The mitochondrial protein import apparatus." Annual Review of Biochemistry 59:331-353.

Pfanner, N., Sollner, T. and Neupert, W. (1991). "Mitochondrial import receptors for precursor proteins." Trends in Biochemical Sciences 16(2):63-67.

Piano, M. R. and Schwertz, D. W. (1994). "Alcoholic heart disease: a review." Heart Lung 23(1):3-17; quiz 18-20.

Piercy, R., Sullivan, K. M., Benson, N. and Gill, P. (1993). "The application of mitochondrial DNA typing to the study of white Caucasian genetic identification." International Journal of Legal Medicine 106(2):85-90.

Piko, L., Hougham, A. J. and Bullpitt, K. J. (1988). "Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging." Meccanismi of Ageing and Development 43:279-293.

Pilkington, S. J., Arizmendi, J. M., Fearnley, I. M., Runswick, M. J., Skehel, J. M. and Walker, J. E. (1993). "Structural organization of complex I from bovine mitochondria." Biochemical Society Transactions 21(1):26-31.

Pilkington, S. J. and Walker, J. E. (1989). "Mitochondrial NADH-ubiquinone reductase: complementary DNA sequences of import precursors of the bovine and human 24-kDa subunit." Biochemistry 28(8):3257-3264.

Pilz, D., Quarrell, O. W. and Jones, E. W. (1994). "Mitochondrial mutation commonly associated with Leber's hereditary optic neuropathy observed in a patient with Wolfram syndrome (DIDMOAD)." Journal of Medical Genetics 31(4):328-330.

Pimentel, E. (1979). "Some aspects of the genetics and etiology of spontaneous diabetes mellitus." Acta Diabetolgica Latina 16(3):193-201.

Pinkert, C. A., Irwin, M. H., Johnson, L. W. and Moffatt, R. J. (1997). "Mitochondria transfer into mouse ova by microinjection." Transgenic Research 6(6):379-383.

Pirsel, M. and Bohr, V. A. (1993). "Methyl methanesulfonate adduct formation and repair in the DHFR gene and in mitochondrial DNA in hamster cells." Carcinogenesis 14(10):2105-2108.

Pitkanen, S., Merante, F., McLeod, D. R., Applegarth, D., Tong, T. and Robinson, B. H. (1996). "Familial cardiomyopathy with cataracts and lactic acidosis: a defect in complex I (NADH-Dehydrogenase) of the mitochondria respiratory chain." Pediatric Research 39(3):513-521.

Pitkanen, S. and Robinson, B. H. (1995). "Induction of Mn-superoxide dismutase and production of superoxide radicals in fibroblast mitochondria from patients with complex I deficiency. Abstract FC032." EUROMIT III, Third International Meeting on Human Mitochondrial Pathology, Chantilly, France:69.

Pitkanen, S. and Robinson, B. H. (1996). "Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase." Journal of Clinical Investigation 98(2):345-351.

Plauchu, H., Votan-Bonamour, B. and Belicard, P. (1976). "[Leber's malady: 15 cases in 4 generations--discussion of transmission]." European Journal of Human Genetics 24 Suppl:81-84.

Plaza, S., Calafell, F., Helal, A., Bouzerna, N., Lefranc, G., Bertranpetit, J. and Comas, D. (2003). "Joining the Pillars of Hercules: mtDNA sequences show multidirectional gene flow in the Western Mediterranean." Annals of Human Genetics 67(4):312-328.

Poderoso, J. J., Carreras, M. C., Lisdero, C., Riobo, N., Schopfer, F. and Boveris, A. (1996). "Nitric oxide inhibits electron transfer and increases superoxide radical production in rat heart mitochondria and submitochondrial particles." Archives of Biochemistry and Biophysics 328(1):85-92.

Poderoso, J. J., Peralta, J. G., Lisdero, C. L., Carreras, M. C., Radisic, M., Schopfer, F., Cadenas, E. and Boveris, A. (1998). "Nitric oxide regulates oxygen uptake and hydrogen peroxide release by the isolated beating rat heart." American Journal of Physiology 274(1 Pt 1):C112-C119.

Polanski, A., Kimmel, M. and Chakraborty, R. (1998). "Application of a time-dependent coalescence process for inferring the history of population size changes from DNA sequence data." Proceedings of the National Academy of Sciences of the United States of America 95(10):5456-5461.

Poloni, E. S., Semino, O., Passarino, G., Santachiara-Benerecetti, A. S., Dupanloup, I., Langaney, A. and Excoffier, L. (1997). "Human genetic affinities for Y-chromosome P49a,f/TaqI haplotypes show strong correspondence with linguistics." American Journal of Human Genetics 61(5):1015-1035.

Polyak, K., Li, Y., Zhu, H., Lengauer, C., Willson, J. K., Markowitz, S. D., Trush, M. A., Kinzler, K. W. and Vogelstein, B. (1998). "Somatic mutations of the mitochondrial genome in human colorectal tumours." Nature Genetics 20(3):291-293.

Pons, G., Raefsky-Estrin, C., Carothers, D. J., Pepin, R. A., Javed, A. A., Jesse, B. W., Ganapathi, M. K., Samols, D. and Patel, M. S. (1988). "Cloning and cDNA sequence of the dihydrolipoamide dehydrogenase component human alpha-ketoacid dehydrogenase complexes." Proceedings of the National Academy of Sciences of the United States of America 85(5):1422-1426.

Pontarin, G., Gallinaro, L., Ferraro, P., Reichard, P. and Bianchi, V. (2003). "Origins of mitochondrial thymidine triphosphate: dynamic relations to cytosolic pools." Proceedings of the National Academy of Sciences of the United States of America 100(21):12159-12164.

Porteous, W. K., James, A. M., Sheard, P. W., Porteous, C. M., Packer, M. A., Hyslop, S. J., Melton, J. V., Pang, C. Y., Wei, Y. H. and Murphy, M. P. (1998). "Bioenergetic consequences of accumulating the common 4977-bp mitochondrial DNA deletion." European Journal of Biochemistry 257(1):192-201.

Postic, C., Shiota, M., Niswender, K. D., Jetton, T. L., Chen, Y., Moates, J. M., Shelton, K. D., Lindner, J., Cherrington, A. D. and Magnuson, M. A. (1999). "Dual roles for glucokinase in glucose homeostasis as determined by liver and pancreatic beta cell-specific gene knock-outs using Cre recombinase." Journal of Biological Chemistry 274(1):305-315.

Poulton, J. (1993). "Mitochondrial DNA and genetic disease." Developmental Medicine and Child Neurology (London) 35:833-840.

Poulton, J. (1998). "Does a common mitochondrial DNA polymorphism underlie susceptibility to diabetes and the thrifty genotype? [letter]." Trends in Genetics 14(10):387-389.

Poulton, J., Bednarz, A. L., Scott-Brown, M., Thompson, C., Macaulay, V. A. and Simmons, D. (2002). "The presence of a common mitochondrial DNA variant is associated with fasting insulin levels in Europeans in Auckland." Diabetic Medicine 19(11):969-971.

Poulton, J. and Bindoff, L. A. (1994). "mtDNA: Pathogenic or nonpathogenic sequence changes." American Journal of Human Genetics 54(2):385-386.

Poulton, J. and Brown, G. K. (1995). "Investigation of mitochondrial disease." Archives of Disease in Childhood 73(2):94-97.

Poulton, J., Brown, M. S., Cooper, A., Marchington, D. R. and Phillips, D. I. (1998). "A common mitochondrial DNA variant is associated with insulin resistance in adult life." Diabetologia 41(1):54-58.

Poulton, J., Deadman, M. E., Bindoff, L., Morten, K., Land, J. and Brown, G. (1993). "Families of mtDNA re-arrangements can be detected in patients with mtDNA deletions: duplications may be a transient intermediate form." Human Molecular Genetics 2:23-30.

Poulton, J., Deadman, M. E., Bronte-Stewart, J., Foulds, W. S. and Gardiner, R. M. (1991). "Analysis of mitochondrial DNA in Leber's hereditary optic neuropathy." Journal of Medical Genetics 28(11):765-770.

Poulton, J., Deadman, M. E. and Gardiner, R. M. (1989). "Duplications of mitochondrial DNA in mitochondrial myopathy." Lancet 1:236-240.

Poulton, J., Deadman, M. E. and Gardiner, R. M. (1989). "Tandem direct duplications of mitochondrial DNA in mitochondrial myopathy: analysis of nucleotide sequence and tissue distribution." Nucleic Acids Research 17:10223-10229.

Poulton, J., Deadman, M. E., Ramacharan, S. and Gardiner, R. M. (1991). "Germ-line deletions of mtDNA in mitochondrial myopathy." American Journal of Human Genetics 48:649-653.

Poulton, J. and Holt, I. (1994). "Mitochondrial DNA: does more lead to less?" Nature Genetics 8:313-315.

Poulton, J., Luan, J., Macaulay, V., Hennings, S., Mitchell, J. and Wareham, N. J. (2002). "Type 2 diabetes is associated with a common mitochondrial variant: evidence from a population-based case-control study." Human Molecular Genetics 11(13):1581-1583.

Poulton, J., Macaulay, V. and Marchington, D. R. (1998). "Mitochondrial genetics '98 is the bottleneck cracked?" American Journal of Human Genetics 62(4):752-757.

Poulton, J. and Marchington, D. R. (1996). "Prospects for DNA-based prenatal diagnosis of mitochondrial disorders." Prenatal Diagnosis 16(13):1247-1256.

Poulton, J. and Marchington, D. R. (2002). "Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications." Reproduction 123(6):751-755.

Poulton, J., Morten, K. J., Marchington, D., Weber, K., Brown, G. K., Rotig, A. and Bindoff, L. (1995). "Duplications of mitochondrial DNA in Kearns-Sayre syndrome." Muscle and Nerve 3(8):S154-158.

Poulton, J., Morten, K. J., Weber, K., Brown, G. K. and Bindoff, L. (1994). "Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?" Human Molecular Genetics 3(6):947-951.

Poulton, J., O'Rahilly, S., Morten, K. J. and Clark, A. (1995). "Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndrome." Diabetologia 38(7):868-871.

Poulton, J., Sewry, C., Potter, C. G., Bougeron, T., Chretien, D., Wijburg, F. A., Morten, K. J. and Brown, G. (1995). "Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome?" Journal of Inherited Metabolic Disease 18(1):4-20.

Poulton, J., Turnbull, D. M., Mehta, A. B., Wilson, J. and Gardiner, R. M. (1988). "Restriction enzyme analysis of the mitochondrial genome in mitochondrial myopathy." Journal of Medical Genetics 25:600-605.

Pratt, C. M., Mahmarian, J. J., Morales-Ballejo, H., Casareto, R. and Moye, L. A. (1998). "Design of a randomized, placebo-controlled multicenter trial on the long-term effects of intermittent transdermal nitroglycerin on left ventricular remodeling after acute myocardial infarction. Transdermal Nitroglycerin Investigators Group." American Journal of Cardiology 81(6):719-724.

Prayson, R. A. and Wang, N. (1998). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS) syndrome: an autopsy report." Archives of Pathology & Laboratory Medicine 122(11):978-981.

Preedy, V. R., Patel, V. B., Why, H. J., Corbett, J. M., Dunn, M. J. and Richardon, P. J. (1996). "Alcohol and the heart: biochemical alterations." Cardiovascular Research 31(1):139-147.

Preedy, V. R., Siddiq, T., Why, H. and Richardson, P. J. (1994). "The deleterious effects of alcohol on the heart: involvement of protein turnover." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 29(2):141-147.

Preedy, V. R., Siddiq, T., Why, H. J. and Richardson, P. J. (1994). "Ethanol toxicity and cardiac protein synthesis in vivo [editorial]." American Heart Journal 127(5):1432-1439.

Preiss, T. and Lightowlers, R. N. (1993). "Post-transcriptional regulation of tissue-specific isoforms. A bovine cytosolic RNA-binding protein, COLBP, associates with messenger RNA encoding the liver-form isopeptides of cytochrome c oxidase." Journal of Biological Chemistry 268(14):10659-10667.

Prelle, A., Fagiolari, G., Checcarelli, N., Moggio, M., Battistel, A., Comi, G. P., Bazzi, P., Bordoni, A., Zeviani, M. and Scarlato, G. (1994). "Mitochondrial myopathy: correlation between oxidative defect and mitochondrial DNA deletions at single fiber level." Acta Neuropathologica (Berlin) 87(4):371-376.

Prezant, T. R., Agapian, J. V., Bohlman, M. C., Bu, X., Oztas, S., Qiu, W. Q., Arnos, K. S., Cortopassi, G. A., Jaber, L., Rotter, J. I., Shohat, M. and Fischel-Ghodsian, N. (1993). "Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness." Nature Genetics 4(3):289-294.

Prezant, T. R., Agapian, J. V. and Fischel-Ghodsian, N. (1994). "Corrections to the human mitochondrial ribosomal RNA sequences." Human Genetics 93(1):87-88.

Prezant, R. T., Shohat, M., Jaber, L., Pressman, S. and Fischel-Ghodsian, N. (1992). "Biochemical characterization of a pedigree with mitochondrially inherited deafness." American Journal of Medical Genetics 44(4):465-472.

Procaccio, V., de Sury, R., Martinez, P., Depetris, D., Rabilloud, T., Soularue, P., Lunardi, J. and Issartel, J. (1998). "Mapping to 1q23 of the human gene (NDUFS2) encoding the 49-kDa subunit of the mitochondrial respiratory Complex I and immunodetection of the mature protein in mitochondria." Mammalian Genome 9(6):482-484.

Procaccio, V., Depetris, D., Soularue, P., Mattei, M. G., Lunardi, J. and Issartel, J. P. (1997). "cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I." Biochimica et Biophysica Acta 1351(1-2):37-41.

Prochaska, L. J., Bisson, R., Capaldi, R. A., Steffens, G. C. and Buse, G. (1981). "Inhibition of cytochrome c oxidase function by dicyclohexylcarbodiimide." Biochimica et Biophysica Acta 637:360-373.

Przedborski, S., Kostic, V., Jackson-Lewis, V., Naini, A. B., Simonetti, S., Fahn, S., Carlson, E., Epstein, C. J. and Cadet, J. L. (1992). "Transgenic mice with increased Cu/Zn-superoxide dismutase activity are resistant to N-methyl-4-phenyl-1,2,3,6-tetrahydropyridine-induced neurotoxicity." Journal of Neuroscience 12(5):1658-1667.

Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C. and Caramazza, R. (1993). "Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family." British Journal of Ophthalmology 77:84-88.

Pulkes, T., Eunson, L., Patterson, V., Siddiqui, A., Wood, N. W., Nelson, I. P., Morgan-Hughes, J. A. and Hanna, M. G. (1999). "The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS." Annals of Neurology 46(6):916-919.

Pulkes, T. and Hanna, M. G. (2001). "Human mitochondrial DNA diseases." Advanced Drug Delivery Reviews 49(1-2):27-43.

Pulkes, T., Liolitsa, D., Nelson, I. P. and Hanna, M. G. (2003). "Classical mitochondrial phenotypes without mtDNA mutations: The possible role of nuclear genes." Neurology 61(8):1144-1147.

Pulkes, T., Siddiqui, A., Morgan-Hughes, J. A. and Hanna, M. G. (2000). "A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance." Neurology 55(8):1210-1212.

Pulkes, T., Sweeney, M. G. and Hanna, M. G. (2000). "Increased risk of stroke in patients with the A12308G polymorphism in mitochondria." Lancet 356(9247):2068-2069.

Pult, I., Sajantila, A., Simanainen, J., Georgiev, O., Schaffner, W. and Paabo, S. (1994). "Mitochondrial DNA sequences from Switzerland reveal striking homogeneity of European populations." Biological Chemistry Hoppe Seyler 375(12):837-840.

Pushnova, E. A., Akhmedova, S. N., Shevtsov, S. P. and Schwartz, E. I. (1994). "A rapid and simple DNA fingerprinting method using RFLP and SSCP analysis of the hypervariable noncoding region of human mitochondrial DNA." Human Mutation 3(3):292-296.

Q

Quintana-Murci, L., Semino, O., Bandelt, H. J., Passarino, G., McElreavey, K. and Santachiara-Benerecetti, A. S. (1999). "Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa." Nature Genetics 23(4):437-441.

R

top of page

Rabier, D., Diry, C., Rotig, A., Rustin, P., Heron, B., Bardet, J., Parvy, P., Ponsot, G., Marsac, C., Saudubray, J. M., Munnich, A. and Kamoun, P. (1998). "Persistent hypocitrullinaemia as a marker for mtDNA NARP T 8993 G mutation?" Journal of Inherited Metabolic Disease 21(3):216-219.

Radi, R., Bush, K. M. and Freeman, B. A. (1993). "The role of cytochrome c and mitochondrial catalase in hydroperoxide-induced heart mitochondrial lipid peroxidation." Archives of Biochemistry & Biophysics 300(1):409-415.

Radi, R., Sims, S., Cassina, A. and Turrens, J. F. (1993). "Roles of catalase and cytochrome c in hydroperoxide-dependent lipid peroxidation and chemiluminescence in rat heart and kidney mitochondria." Free Radical Biology & Medicine 15(6):653-659.

Radi, R., Turrens, J. F., Chang, L. Y., Bush, K. M., Crapo, J. D. and Freeman, B. A. (1991). "Detection of catalase in rat heart mitochondria." Journal of Biological Chemistry 266(32):22028-22034.

Raffelsberger, T., Rossmanith, W., Thaller-Antlanger, H. and Bittner, R. E. (2001). "CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene." Neurology 57(12):2298-2301.

Ragan, C. I. (1987). "Structure of NADH-ubiquinone reductase (Complex I)." Current Topics in Bioenergetics 15:1.

Ragan, C. I., Galante, Y. M. and Hatefi, Y. (1982). "Purification of three iron-sulfur proteins from the iron-protein fragment of mitochondrial NADH-ubiquinone oxidoreductase." Biochemistry 21:2518-2524.

Ragan, C. I., Galante, Y. M., Hatefi, Y. and Ohnishi, T. (1982). "Resolution of mitochondrial NADH dehydrogenase and isolation of two iron-sulfur proteins." Biochemistry 21:590-594.

Raha, S., Merante, F., Shoubridge, E., Myint, A. T., Tein, I., Benson, L., Johns, T. and Robinson, B. H. (1999). "Repopulation of rho0 cells with mitochondria from a patient with a mitochondrial DNA point mutation in tRNA(Gly) results in respiratory chain dysfunction." Human Mutation 13(3):245-254.

Rahman, S., Blok, R. B., Dahl, H. H., Danks, D. M., Kirby, D. M., Chow, C. W., Christodoulou, J. and Thorburn, D. R. (1996). "Leigh syndrome: clinical features and biochemical and DNA abnormalities." Annals of Neurology 39(3):343-351.

Rahman, S., Poulton, J., Marchington, D. and Suomalainen, A. (2001). "Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study." American Journal of Human Genetics 68(1):238-240.

Rahman, S., Taanman, J. W., Cooper, J. M., Nelson, I., Hargreaves, I., Meunier, B., Hanna, M. G., Garcia, J. J., Capaldi, R. A., Lake, B. D., Leonard, J. V. and Schapira, A. H. (1999). "A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy." American Journal of Human Genetics 65(4):1030-1039.

Rampino, N., Yamamoto, H., Ionov, Y., Li, Y., Sawai, H., Reed, J. C. and Perucho, M. (1997). "Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype." Science 275(5302):967-969.

Ramsay, R. R., Krueger, M. J., Youngster, S. K., Gluck, M. R., Casida, J. E. and Singer, T. P. (1991). "Interaction of 1-methyl-4-phenylpyridinium ion (MPP+) and its analogs with the rotenone/piericidin binding site of NADH dehydrogenase." Journal of Neurochemistry 56(4):1184-1190.

Ramsay, R. R. and Singer, T. P. (1986). "Energy-dependent uptake of N-methyl-4-phenylpyridinium, the neurotoxic metabolite of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine, by mitochondria." Journal of Biological Chemistry 261(17):7585-7587.

Rand, D. M. and Kann, L. M. (1998). "Mutation and selection at silent and replacement sites in the evolution of animal mitochondrial DNA." Genetica 102/103(1-6):393-407.

Rando, J. C., Pinto, F., Gonzalez, A. M., Hernandez, M., Larruga, J. M., Cabrera, V. M. and Bandelt, H. J. (1998). "Mitochondrial DNA analysis of northwest African populations reveals genetic exchanges with European, near-eastern, and sub-Saharan populations." Annals of Human Genetics 62(Pt 6):531-550.

Rasschaert, J., Pueyo, M. E., Velho, G., Froguel, P. and Malaisse, W. J. (1995). "FAD-glycerophosphate dehydrogenase activity in lymphocytes of patients with mitochondrial mutation of the tRNALeu(UUR) gene." Medical Science Research 23:143-144.

Ravn, K., Wibrand, F., Hansen, F.J., Horn, N., Rosenberg, T. and Schwartz, M. (2001). "An mtDNA mutation, 14453G-A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome." European Journal of Human Genetics 9(10):805-809.

Reardon, W., Ross, R. J., Sweeney, M. G., Luxon, L. M., Pembrey, M. E., Harding, A. E. and Trembath, R. C. (1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA." Lancet 340:1376-1379.

Reaume, A. G., Elliott, J. L., Hoffman, E. K., Kowall, N. W., Ferrante, R. J., Siwek, D. F., Wilcox, H. M., Flood, D. G., Beal, M. F., Brown, R. H., Jr., Scott, R. W. and Snider, W. D. (1996). "Motor neurons in Cu/Zn superoxide dismutase-deficient mice develop normally but exhibit enhanced cell death after axonal injury." Nature Genetics 13(1):43-47.

Redd, A. J., Takezaki, N., Sherry, S. T., McGarvey, S. T., Sofro, A. S. and Stoneking, M. (1995). "Evolutionary history of the COII/tRNALys intergenic 9 base pair deletion in human mitochondrial DNAs from the Pacific." Molecular Biology and Evolution 12(4):604-615.

Regan, T. J. (1990). "Alcohol and the cardiovascular system." JAMA 264(3):377-381.

Reichert, A., Rothbauer, U. and Morl, M. (1998). "Processing and editing of overlapping tRNAs in human mitochondria." Journal of Biological Chemistry 273(48):31977-31984.

Reichmann, H., Degoul, F., Gold, R., Meurers, B., Ketelsen, U. P., Hartmann, J., Marsac, C. and Lestienne, P. (1991). "Histological, enzymatic and mitochondrial DNA studies in patients with Kearns-Sayre syndrome and chronic progressive external ophthalmoplegia." European Neurology 31:108-113.

Reichmann, H., Florke, S., Hebenstreit, G., Schrubar, H. and Riederer, P. (1993). "Analyses of energy metabolism and mitochondrial genome in post-mortem brain from patients with Alzheimer's disease." Journal of Neurology 240(6):377-380.

Reichmann, H., Janetzky, B., Bischof, F., Seibel, P., Schols, L., Kuhn, W. and Przuntek, H. (1994). "Unaltered respiratory chain enzyme activity and mitochondrial DNA in skeletal muscle from patients with idiopathic Parkinson's syndrome." European Neurology 34(5):263-267.

Reichmann, H., Naumann, M., Hauck, S. and Janetzky, B. (1994). "Repiratory chain and mitochondrial deoxyribonucleic acid in blood cells from patients with focal and generalized dystonia." Movement Disorders 9(6):597-600.

Reid, F. M., Rovio, A., Holt, I. J. and Jacobs, H. T. (1997). "Molecular phenotype of a human lymphoblastoid cell-line homoplasmic for the np 7445 deafness-associated mitochondrial mutation." Human Molecular Genetics 6(3):443-449.

Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). "Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness." Human Molecular Genetics 3(8):1435-1436.

Reid, F. M., Vernham, G. A. and Jacobs, H. T. (1994). "A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness." Human Mutation 3(3):243-247.

Reidla, M., Kivisild, T., Metspalu, E., Kaldma, K., Tambets, K., Tolk, H. V., Parik, J., Loogvali, E. L., Derenko, M., Malyarchuk, B., Bermisheva, M., Zhadanov, S., Pennarun, E., Gubina, M., Golubenko, M., Damba, L., Fedorova, S., Gusar, V., Grechanina, E., Mikerezi, I., Moisan, J. P., Chaventre, A., Khusnutdinova, E., Osipova, L., Stepanov, V., Voevoda, M., Achilli, A., Rengo, C., Rickards, O., De Stefano, G. F., Papiha, S., Beckman, L., Janicijevic, B., Rudan, P., Anagnou, N., Michalodimitrakis, E., Koziel, S., Usanga, E., Geberhiwot, T., Herrnstadt, C., Howell, N., Torroni, A. and Villems, R. (2003). "Origin and Diffusion of mtDNA Haplogroup X." American Journal of Human Genetics 73(6):1178-1190.

Reinke, L. A., Lai, E. K., DuBose, C. M. and McCay, P. B. (1987). "Reactive free radical generation in vivo in heart and liver of ethanol- fed rats: correlation with radical formation in vitro." Proceedings of the National Academy of Sciences of the United States of America 84(24):9223-9227.

Relethford, J. H. (1997). "Mutation rate and excess African heterozygosity." Human Biology 69(6):785-792.

Relethford, J. H. (1998). "Mitochondrial DNA and ancient population growth." American Journal of Physical Anthropology 105(1):1-7.

Remes, A. M., Hassinen, I. E., Ikaheimo, M. J., Herva, R., Hirvonen, J. and Peuhkurinen, K. J. (1994). "Mitochondrial DNA deletions in dilated cardiomyopathy: a clinical study employing endomyocardial sampling." Journal of the American College of Cardiology 23(4):935-942.

Remes, A. M., Karppa, M., Moilanen, J. S., Rusanen, H., Hassinen, I. E., Majamaa, K., Uimonen, S., Sorri, M., Salmela, P. I. and Karvonen, S. L. (2003). "Epidemiology of the mitochondrial DNA 8344A>G mutation for the myoclonus epilepsy and ragged red fibres (MERRF) syndrome." Journal of Neurology, Neurosurgery & Psychiatry 74(8):1158-1159.

Remes, A. M., Majamaa, K., Herva, R. and Hassinen, I. E. (1993). "Adult-onset diabetes mellitus and neurosensory hearing loss in maternal relatives of MELAS patients in a family with the tRNALeu(UUR) mutation." Neurology 43:1015-1020.

Remes, A. M., Peuhkurinen, K. J., Herva, R., Majamaa, K. and Hassinen, I. E. (1993). "Kearns-Sayre syndrome case presenting a mitochondrial DNA deletion with unusual direct repeats and a rudimentary RNAase mitochondrial ribonucleotide processing target sequence." Genomics 16:256-258.

Rempfer, R., Crook, R., Houlden, H., Duff, K., Hutton, M., Roberts, G. W., Raghavan, R., Perry, R. and Hardy, J. (1994). "Parkinson's disease, but not Alzheimer's disease, Lewy body variant associated with mutant alleles at cytochrome P450 gene." Lancet 344(8925):815.

Rey, E., Treluyer, J. M. and Pons, G. (1999). "Pharmacokinetic optimization of benzodiazepine therapy for acute seizures. Focus on delivery routes." Clinical Pharmacokinetics 36(6):409-424.

Reyes, A., Gissi, C., Pesole, G. and Saccone, C. (1998). "Asymmetrical directional mutation pressure in the mitochondrial genome of mammals." Molecular Biology & Evolution 15(8):957-966.

Reynier, P., Chretien, M. F., Penisson-Besnier, I., Malthiery, Y., Rohmer, V. and Lestienne, P. (1997). "Male infertility associated with multiple mitochondrial DNA rearrangements." Comptes Rendus de l Academie des Sciences - Serie Iii, Sciences de la Vie 320(8):629-636.

Reynier, P., Chretien, M. F., Savagner, F., Larcher, G., Rohmer, V., Barriere, P. and Malthiery, Y. (1998). "Long PCR analysis of human gamete mtDNA suggests defective mitochondrial maintenance in spermatozoa and supports the bottleneck theory for oocytes." Biochemical & Biophysical Research Communications 252(2):373-377.

Reynier, P., Figarella-Branger, D., Serratrice, G., Charvet, B. and Malthiery, Y. (1994). "Association of deletion and homoplasmic point mutation of the mitochondrial DNA in an ocular myopathy." Biochemical and Biophysical Research Communications 202(3):1606-1611.

Reynier, P. and Malthiery, Y. (1995). "Accumulation of deletions in mtDNA during tissue aging: analysis by long PCR." Biochemical and Biophysical Research Communications 217(1):59-67.

Reynier, P., Pellissier, J. F., Harle, J. R. and Malthiery, Y. (1994). "Multiple deletions of the mitochondrial DNA in polymyalgia rheumatica." Biochemical and Biophysical Research Communications 205(1):375-380.

Ribetio-dos-Santos, A. K., Santos, S. E., Machado, A. L., Guapindaia, V. and Zago, M. A. (1996). "Heterogeneity of mitochondrial DNA haplotypes in Pre-Columbian natives of the Amazon region." American Journal of Physical Anthropology 101(1):29-37.

Ribiere, C., Hininger, I., Rouach, H. and Nordmann, R. (1992). "Effects of chronic ethanol administration on free radical defence in rat myocardium." Biochemical Pharmacology 44(8):1495-1500.

Richards, M., Corte-Real, H., Forster, P., Macaulay, V., Wilkinson-Herbots, H., Demaine, A., Papiha, S., Hedges, R., Bandelt, H. J. and Sykes, B. (1996). "Paleolithic and neolithic lineages in the European mitochondrial gene pool." American Journal of Human Genetics 59(1):185-203.

Richards, M.B., Macaulay, V.A., Bandelt, H.J. and Sykes, B.C. (1998)."Phylogeography of mitochondrial DNA in western Europe." Annals of Human Genetics 62(Pt 3):241-260.

Richards, M., Macaulay, V., Hickey, E., Vega, E., Sykes, B., Guida, V., Rengo, C., Sellitto, D., Cruciani, F., Kivisild, T., Villems, R., Thomas, M., Rychkov, S., Rychkov, O., Rychkov, Y., Golge, M., Dimitrov, D., Hill, E., Bradley, D., Romano, V., Cali, F., Vona, G., Demaine, A., Papiha, S., Triantaphyllidis, C., Stefanescu, G., Hatina, J., Belledi, M., Di Rienzo, A., Oppenheim, A., Norby, S., Al-Zaheri, N., Santachiara-Benerecetti, S., Scozzari, R., Torroni, A. and Bandelt, H.J. (2000). "Tracing European founder lineages in the Near Eastern mtDNA pool." American Journal of Human Genetics 67(5):1251-1276.

Richardson, P. J., Wodak, A. D., Atkinson, L., Saunders, J. B. and Jewitt, D. E. (1986). "Relation between alcohol intake, myocardial enzyme activity, and myocardial function in dilated cardiomyopathy. Evidence for the concept of alcohol induced heart muscle disease." British Heart Journal 56(2):165-170.

Richly, E., Chinnery, P. F. and Leister, D. (2003). "Evolutionary diversification of mitochondrial proteomes: implications for human disease." Trends in Genetics 19(7):356-362.

Richter, C. (1988). "Do mitochondrial DNA fragments promote cancer and aging? [see comments]." FEBS Letters 241(1-2):1-5.

Richter, C., Park, J. W. and Ames, B. N. (1988). "Normal oxidative damage to mitochondrial and nuclear DNA is extensive." Proceedings of the National Academy of Sciences of the United States of America 85(17):6465-6467.

Richter, G. and Bacchetta, M. D. (1998). "Interventions in the human genome: some moral and ethical considerations." Journal of Medicine & Philosophy 23(3):303-317.

Rickards, O., Martinez-Labarga, C., Lum, J. K., De Stefano, G. F. and Cann, R. L. (1999). "mtDNA history of the Cayapa Amerinds of Ecuador: detection of additional founding lineages for the Native American populations." American Journal of Human Genetics 65(2):519-530.

Rieder, M. J., Taylor, S. L., Tobe, V. O. and Nickerson, D. A. (1998). "Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome." Nucleic Acids Research 26(4):967-973.

Rieger, T., Munscher, C., Seibel, P., Muller-Hocker, J. and Kadenbach, B. (1993). "Detection of small amounts of mutated mitochondrial DNA by allele-specific PCR (AS-PCR)." Methods in Molecular and Cellular Biology 4:121-127.

Rieske, J. S. (1976). "Composition, structure, and function of complex III of the respiratory chain." Biochimica et Biophysica Acta 456:195-247.

Rigoli, L., Di Benedetto, A., Romano, G., Corica, F. and Cucinotta, D. (1997). "Mitochondrial DNA [tRNA(Leu)(UUR)] mutation in a southern Italian diabetic population [letter]." Diabetes Care 20(4):674-675.

Riond, J., Mattei, M. G., Kaghad, M., Dumont, X., Guillemot, J. C., Le Fur, G., Caput, D. and Ferrara, P. (1991). "Molecular cloning and chromosomal localization of a human peripheral- type benzodiazepine receptor." European Journal of Biochemistry 195(2):305-311.

Riordan-Eva, P. and Harding, A. E. (1995). "Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations." Journal of Medical Genetics 32(2):81-87.

Riordan-Eva, P., Sanders, M. D., Govan, G. G., Sweeney, M. G., Da Costa, J. and Harding, A. E. (1995). "The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation." Brain 118(Pt 2):319-337.

Ritte, U., Neufeld, E., Prager, E. M., Gross, M., Hakim, I., Khatib, A. and Bonne-Tamir, B. (1993). "Mitochondrial DNA affinity of several Jewish communities." Human Biology 65:359-385.

Rivera, M. A., Perusse, L., Gagnon, J., Dionne, F. T., Leon, A. S., Rao, D. C., Skinner, J. S., Wilmore, J. H., Sjostrom, L. and Bouchard, C. (1999). "A mitochondrial DNA D-loop polymorphism and obesity in three cohorts of women." International Journal of Obesity & Related Metabolic Disorders 23(6):666-668.

Rizzo, J. F. (1995). "Adenosine triphosphate deficiency: a genre of optic neuropathy." Neurology 45(1):11-16.

Rizzuto, R., Nakase, H., Darras, B., Francke, U., Fabrizi, G., M., Mengel, T., Walsh, F., Kadenbach, B., DiMauro, S. and Schon, E. A. (1989). "A gene specifying subunit VIII of human cytochrome c oxidase is localized to chromosome 11 and is expressed in both muscle and non-muscle tissues." Journal of Biological Chemistry 264(18):10595-10600.

Rizzuto, R., Nakase, H., Zeviani, M., DiMauro, S. and Schon, E. A. (1988). "Subunit Va of human and bovine cytochrome c oxidase is highly conserved." Gene 69(2):245-256.

Roberts, C. J., Nelson, B., Marton, M. J., Stoughton, R., Meyer, M. R., Bennett, H. A., He, Y. D., Dai, H., Walker, W. L., Hughes, T. R., Tyers, M., Boone, C. and Friend, S. H. (2000). "Signaling and circuitry of multiple MAPK pathways revealed by a matrix of global gene expression profiles." Science 287(5454):873-880.

Roberts, J. R., Narasimhan, C., Hruz, P. W., Mitchell, G. A. and Miziorko, H. M. (1994). "3-Hydroxy-3-methylglutaryl-CoA lyase: expression and isolation of the recombinant human enzyme and investigation of a mechanism for regulation of enzyme activity." Journal of Biological Chemistry 269(27):17841-17846.

Robinson, B. H. (1988). "Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase." Journal of Bioenergetics and Biomembranes 20(3):313-323.

Robinson, B. H. (1994). "MtDNA and nuclear mutations affecting oxidative phosphorylation: correlating severity of clinical defect with extent of bioenergetic compromise." Journal of Bioenergetics and Biomembranes 26(3):311-316.

Robinson, B. H., De Meirleir, L., Glerum, M., Sherwood, G. and Becker, L. (1987). "Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease." Journal of Pediatrics 110(2):216-222.

Rocha, H., Flores, C., Campos, Y., Arenas, J., Vilarinho, L., Santorelli, F. M. and Torroni, A. (1999). "About the "pathological" role of the mtDNA T3308C mutation... ." American Journal of Human Genetics 65(5):1457-1459.

Rocher, C., Letellier, T., Copeland, W. C. and Lestienne, P. (2002). "Base composition at mtDNA boundaries suggests a DNA triple helix model for human mitochondrial DNA large-scale rearrangements." Molecular Genetics and Metabolism 76(2):123-132.

Rodas, C., Gelvez, N. and Keyeux, G. (2003). "Mitochondrial DNA studies show asymmetrical Amerindian admixture in Afro-Colombian and Mestizo populations." Human Biology 75(1):13-30.

Roe, B. A., Ma, D. P., Wilson, R. K. and Wong, J. F. (1985). "The complete nucleotide sequence of the Xenopusl laevis mitochondrial genome." Journal of Biological Chemistry 260(17):9759-9774.

Roederer, M., Staal, F. J., Osada, H. and Herzenberg, L. A. (1991). "CD4 and CD8 T cells with high intracellular glutathione levels are selectively lost as the HIV infection progresses." International Immunology 3(9):933-937.

Rogaev, E. I., Sherrington, R., Rogaeva, E. A., Levesque, G., Ikeda, M., et al. (1995). "Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene." Nature 376(6543):775-778.

Roise, D. (1988). "Import of proteins into mitochondria." Progress in Clinical and Biological Research 282:43-53.

Romano, V., Cali, F., Ragalmuto, A., D'Anna, R. P., Flugy, A., De Leo, G., Giambalvo, O., Lisa, A., Fiorani, O., Di Gaetano, C., Salerno, A., Tamouza, R., Charron, D., Zei, G., Matullo, G. and Piazza, A. (2003). "Autosomal microsatellite and mtDNA genetic analysis in Sicily (Italy)." Annals of Human Genetics 67(1):42-53.

Romero, R. (1998). "The difficulty with rapid communication: fulminant hepatic failure in infancy [editorial; comment]." Journal of Pediatric Gastroenterology & Nutrition 26(4):472-474.

Rose, G., Passarino, G., Carrieri, G., Altomare, K., Greco, V., Bertolini, S., Bonafe, M., Franceschi, C. and De Benedictis, G. (2001). "Paradoxes in longevity: sequence analysis of mtDNA haplogroup J in centenarians." European Journal of Human Genetics 9(9):701-707.

Rose, M. R. (1998). "Mitochondrial myopathies: genetic mechanisms." Archives of Neurology 55(1):17-24.

Rosenbloom, A. L., Joe, J. R., Young, R. S. and Winter, W. E. (1999). "Emerging epidemic of type 2 diabetes in youth." Diabetes Care 22(2):345-354.

Roses, A. D. (1996). "From genes to mechanisms to therapies: lessons to be learned from neurological disorders." Nature Medicine 2(3):267-269.

Roses, A. D., Pericak-Vance, M. A., Saunders, A. M., Schmechel, D., Goldgaber, D. and Strittmatter, W. (1994). "Complex genetic disease: can genetic strategies in Alzheimer's disease and new genetic mechanisms be applied to epilepsy?" Epilepsia 35(Suppl 1):S20-28.

Rosing, H. S., Hopkins, L. C., Wallace, D. C., Epstein, C. M. and Weidenheim, K. (1985). "Maternally inherited mitochondrial myopathy and myoclonic epilepsy." Annals of Neurology 17(3):228-237.

Ross, O. A., McCormack, R., Curran, M. D., Duguid, R. A., Barnett, Y. A., Rea, I. M. and Middleton, D. (2001). "Mitochondrial DNA polymorphism: its role in longevity of the Irish population." Experimental Gerontology 36(7):1161-1178.

Rossi, C., Azzone, G. F. and Azzi, A. (1967). "Ion transport in liver mitochondria. 3. Stoicheometry of proton release during aerobic calcium ion translocation." European Journal of Biochemistry 1(2):141-146.

Rossignol, R., Malgat, M., Mazat, J. P. and Letellier, T. (1999). "Threshold effect and tissue specificity. Implication for mitochondrial cytopathies." Journal of Biological Chemistry 274(47):33426-33432.

Rossmanith, W. (1997). "Processing of human mitochondrial tRNA(Ser(AGY))GCU: a novel pathway in tRNA biosynthesis." Journal of Molecular Biology 265(4):365-371.

Rossmanith, W. and Karwan, R. M. (1998). "Characterization of human mitochondrial RNase P: novel aspects in tRNA processing." Biochemical and Biophysical Research Communications 247(2):234-241.

Rossmanith, W. and Karwan, R. M. (1998). "Impairment of tRNA processing by point mutations in mitochondrial tRNA(Leu)(UUR) associated with mitochondrial diseases." FEBS Letters 433(3):269-274.

Rossmanith, W., Raffelsberger, T., Roka, J., Kornek, B., Feucht, M. and Bittner, R. E. (2003). "The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene." Annals of Neurology 54(6):820?823.

Rossmanith, W., Tullo, A., Potuschak, T., Karwan, R. and Sbisa, E. (1995). "Human mitochondrial tRNA processing." Journal of Biological Chemistry 270(21):12885-12891.

Rotig, A., Bessis, J. L., Romero, N., Cormier, V., Saudubray, J. M., Narcy, P., Lenoir, G., Rustin, P. and Munnich, A. (1992). "Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia." American Journal of Human Genetics 50:364-370.

Rotig, A., Bonnefont, J. P. and Munnich, A. (1997). "[Mitochondrial diabetes]." Journees Annuelles de Diabetologie de l Hotel-Dieu:33-42.

Rotig, A., Bourgeron, T., Chretien, D., Rustin, P. and Munnich, A. (1995). "Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome." Human Molecular Genetics 4(8):1327-1330.

Rotig, A., Bourgeron, T., Rustin, P. and Munnich, A. (1995). "Phenotypic expression of mitochondrial genotypes in cultured skin fibroblasts and in Epstein-Barr virus-transformed lymphocytes in Pearson syndrome." Muscle and Nerve 3(64):S159-164.

Rotig, A., Colonna, M., Blanche, S., Fischer, A., LeDeist, F., Frezal, J., Saudubray, J. M. and Munnich, A. (1988). "Deletion of blood mitochondrial DNA in pancytopenia." Lancet 2:567-568.

Rotig, A., Colonna, M., Bonnefont, J. P., Blanche, S., Fischer, A., Saudubray, J. M. and Munnich, A. (1989). "Mitochondrial DNA deletion in Pearson's marrow-pancreas syndrome." Lancet 1:902-903.

Rotig, A., Cormier, V., Blanche, S., Bonnefont, J. P., Ledeist, F., Romero, N., Schmitz, J., Rustin, P., Fischer, A. and Saudubray, J. M. (1990). "Pearson's marrow-pancreas syndrome. A multi-system mitochondrial disorder in infancy." Journal of Clinical Investigation 86:1601-1608.

Rotig, A., Cormier, V., Chatelain, P., Francois, R., Saudubray, J. M., Rustin, P. and Munnich, A. (1993). "Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrofia, and deafness (Wolfram syndrome, MIM 222300)." Journal of Clinical Investigation 91:1095-1098.

Rotig, A., Cormier, V., Koll, F., Mize, C. E., Saudubray, J.-M., Veerman, A., Pearson, H. A. and Munnich, A. (1991). "Site-specific deletions of the mitochondrial genome in the Pearson marrow-pancreas syndrome." Genomics 10:502-504.

Rotig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A. and Rustin, P. (1997). "Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia." Nature Genetics 17(2):215-217.

Rotig, A., Goutieres, F., Niaudet, P., Rustin, P., Chretien, D., Guest, G., Mikol, J., Gubler, M. C. and Munnich, A. (1995). "Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis." Journal of Pediatrics 126(4):597-601.

Rotig, A., Parfait, B., Heidet, L., Dujardin, G., Rustin, P. and Munnich, A. (1997). "Sequence and structure of the human OXA1L gene and its upstream elements." Biochimica et Biophysica Acta 1361(1):6-10.

Rottenberg, H. (1984). "Membrane potential and surface potential in mitochondria: uptake and binding of lipophilic cations." Journal of Membrane Biology 81(2):127-138.

Rousseau, D. L., Ching, Y. and Wang, J. (1993). "Proton translocation in cytochrome c oxidase: redox linkage through proximal ligand exchange on cytochrome a3." Journal of Bioenergetics and Biomembranes 25:165-176.

Rousselet, F. and Mangin, P. (1998). "Mitochondrial DNA polymorphisms: a study of 50 French Caucasian individuals and application to forensic casework." International Journal of Legal Medicine 111(6):292-298.

Rovio, A. T., Marchington, D. R., Donat, S., Schuppe, H. C., Abel, J., Fritsche, E., Elliott, D. J., Laippala, P., Ahola, A. L., McNay, D., Harrison, R. F., Hughes, B., Barrett, T., Bailey, D. M., Mehmet, D., Jequier, A. M., Hargreave, T. B., Kao, S. H., Cummins, J. M., Barton, D. E., Cooke, H. J., Wei, Y. H., Wichmann, L., Poulton, J. and Jacobs, H. T. (2001). "Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility." Nature Genetics 29(3):261-262.

Rovio, A., Tiranti, V., Bednarz, A. L., Suomalainen, A., Spelbrink, J. N., Lecrenier, N., Melberg, A., Zeviani, M., Poulton, J., Foury, F. and Jacobs, H. T. (1999). "Analysis of the trinucleotide CAG repeat from the human mitochondrial DNA polymerase gene in healthy and diseased individuals." European Journal of Human Genetics 7(2):140-146.

Rowland, L. P. (1983). "Molecular genetics, pseudogenetics, and clinical neurology." Neurology 33(9):1179-1195.

Rowland, L. P., Hirano, M., DiMauro, S. and Schon, E. A. (1997). "Oculopharyngeal muscular dystrophy, other ocular myopathies, and progressive external ophthalmoplegia." Neuromuscular Disorders 7(Suppl 1):S15-S21.

Ruiz-Pesini, E., Lapena, A. C., Diez-Sanchez, C., Perez-Martos, A., Montoya, J., Alvarez, E., Diaz, M., Urries, A., Montoro, L., Lopez-Perez, M. J. and Enriquez, J. A. (2000). "Human mtDNA Haplogroups associated with high or reduced spermatozoa motility." American Journal of Human Genetics 67(3):682-696.

Rusanen, H., Majamaa, K., Tolonen, U., Remes, A. M., Myllyla, R. and Hassinen, I. E. (1995). "Demyelinating polyneuropathy in a patient with the tRNALeu(UUR) mutation at base pair 3243 of the mitochondrial DNA." Neurology 45(6):1188-1192.

Russell, M. B., Diamant, M. and Norby, S. (1997). "Genetic heterogeneity of migraine with and without aura in Danes cannot be explained by mutation in mtDNA nucleotide pair 11084." Acta Neurologica Scandinavica 96(3):171-173.

Russell, M. W., du Manoir, S., Collins, F. S. and Brody, L. C. (1997). "Cloning of the human NADH: ubiquinone oxidoreductase subunit B13: localization to chromosome 7q32 and identification of a pseudogene on 11p15." Mammalian Genome 8(1):60-61.

Ruvolo, M., Zehr, S., von Dornum, M., Pan, D., Chang, B. and Lin, J. (1993). "Mitochondrial COII sequences and modern human origins." Molecular Biology and Evolution 10:1115-1135.

S

top of page

Sacconi, S., Salviati, L., Sue, C. M., Shanske, S., Davidson, M. M., Bonilla, E., Naini, A. B., De Vivo, D. C. and DiMauro, S. (2003). "Mutation screening in patients with isolated cytochrome c oxidase deficiency." Pediatric Research 53(2):224-230.

Sadlock, J. E., Lightowlers, R. N., Capaldi, R. A. and Schon, E. A. (1993). "Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase." Biochimica et Biophysica Acta 1172(1-2):223-225.

Sagar, S., Kallo, I. J., Kaul, N., Ganguly, N. K. and Sharma, B. K. (1992). "Oxygen free radicals in essential hypertension." Molecular and Cellular Biochemistry 111(1-2):103-108.

Sahashi, K., Ibi, T., Yoneda, M., Tanaka, M. and Ohno, K. (1997). "[A mitochondrial DNA mutation in the heteroplasmic tRNA-Tyr gene associated with chronic progressive external ophthalmoplegia--clinical and molecular biological study]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3265-3269.

Sahashi, K., Ohno, K., Tanaka, M., Ibi, T., Yamamoto, T., Tashiro, M., Sato, W., Takahashi, A. and Ozawa, T. (1990). "Cytoplasmic body and mitochondrial DNA deletion." Journal of the Neurological Sciences 99:291-300.

Sahashi, K., Tanaka, M., Tashiro, M., Ohno, K., Ibi, T., Takahashi, A. and Ozawa, T. (1992). "Increased mitochondrial DNA deletions in the skeletal muscle of myotonic dystrophy." Gerontology 38:18-29.

Saillard, J., Forster, P., Lynnerup, N., Bandelt, H.J. and Norby, S. (2000)."mtDNA variation among Greenland Eskimos: the edge of the Beringian expansion." American Journal of Human Genetics 67(3):718-726.

Saillard, J., Magalhaes, P. J., Schwartz, M., Rosenberg, T. and Norby, S. (2000). "Mitochondrial DNA variant 11719G is a marker for the mtDNA haplogroup cluster HV." Human Biology 72(6):1065-1068.

Saitoh, S., Momoi, M. Y., Ohki, T., Yamagata, T., Tsuru, T., Mizuguchi, M. and Arima, K. (1998). "A large-scale mitochondrial DNA deletion causing progressive ataxia." Journal of Child Neurology 13(11):573-575.

Saitoh, S., Momoi, M. Y., Yamagata, T., Nakauchi, H., Nihei, K. and Fujii, M. (1999). "Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNA(Leu)(UUR) gene mutation." Journal of Inherited Metabolic Disease 22(5):608-614.

Saitoh, T., Niijima, K. and Mizuno, Y. (1987). "Long-term effect of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) on striatal dopamine content in young and mature mice." Journal of the Neurological Sciences 77(2-3):229-235.

Saitou, N. and Nei, M. (1987). "The neighbor-joining method: a new method for reconstructing phylogenetic trees." Molecular Biology and Evolution 4(4):406-425.

Sajantila, A., Lahermo, P., Anttinen, T., Lukka, M., Sistonen, P., Savontaus, M. L., Aula, P., Beckman, L., Tranebjaerg, L., Gedde-Dahl, T., Issel-Tarver, L., DiRienzo, A. and Paabo, S. (1995). "Genes and languages in Europe: an analysis of mitochondrial lineages." Genome Research 5(1):42-52.

Sakanashi, T., Sako, S., Nozuhara, A., Adachi, K., Okamoto, T., Koga, Y. and Toshima, H. (1991). "Vitamin E deficiency has a pathological role in myocytolysis in cardiomyopathic Syrian hamster (BIO14.6)." Biochemical and Biophysical Research Communications 181(1):145-150.

Sakaue, S., Ohmuro, J., Mishina, T., Miyazaki, H., Yamaguchi, E., Nishimura, M., Fujita, M., Nagashima, K., Tagami, S. and Kawakami, Y. (2002). "A case of diabetes, deafness, cardiomyopathy, and central sleep apnea: novel mitochondrial DNA polymorphisms." Tohoku Journal of Experimental Medicine 196(3):203-211.

Sakuta, R., Goto, Y., Horai, S. and Nonaka, I. (1993). "Mitochondrial DNA mutations at nucleotide positions 3243 and 3271 in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes: a comparative study." Journal of the Neurological Sciences 115:158-160.

Sakuta, R., Goto, Y., Nonaka, I. and Horai, S. (1993). "An A-to-G transition at nucleotide pair 11084 in the ND4 gene may be an mtDNA polymorphism [letter; comment]." American Journal of Human Genetics 53(4):964-965.

Sakuta, R. and Nonaka, I. (1989). "Vascular involvement in mitochondrial myopathy." Annals of Neurology 25(6):594-601.

Salach, J. I., Singer, T. P., Castagnoli, N., Jr. and Trevor, A. (1984). "Oxidation of the neurotoxic amine 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP) by monoamine oxidases A and B and suicide inactivation of the enzymes by MPTP." Biochemical and Biophysical Research Communications 125(2):831-835.

Salas, A., Comas, D., Lareu, M.V., Bertranpetit, J. and Carracedo, A. (1998). "mtDNA analysis of the Galician population: a genetic edge of European variation." European Journal of Human Genetics 6(4):365-375.

Salas, A., Lareu, M.V., Calafell, F., Bertranpetit, J. and Carracedo, A. (2000). "mtDNA hypervariable region II (HVII) sequences in human evolution studies." European Journal of Human Genetics 8(12):964-974.

Salazar, J. J. and Van Houten, B. (1997). "Preferential mitochondrial DNA injury caused by glucose oxidase as a steady generator of hydrogen peroxide in human fibroblasts." Mutation Research 385(2):139-149.

Salganicoff, L. and Selak, M. (1998). "Problems in the diagnosis of mitochondrial cytopathies. Introduction." Biofactors 7(3):209-212.

Salmaggi, A., Carrara, F. and Zeviani, M. (1994). "Remarkable recovery of visual function in a patient with Leber's optic neuropathy and multiple mutations of mitochondrial DNA." International Journal of Neuroscience 77(3-4):261-266.

Salviati, L., Sacconi, S., Mancuso, M., Otaegui, D., Camano, P., Marina, A., Rabinowitz, S., Shiffman, R., Thompson, K., Wilson, C. M., Feigenbaum, A., Naini, A. B., Hirano, M., Bonilla, E., DiMauro, S. and Vu, T. H. (2002). "Mitochondrial DNA depletion and dGK gene mutations." Annals of Neurology 52(3):311-317.

Samuels, D. C., Boys, R. J., Henderson, D. A. and Chinnery, P. F. (2003). "A compositional segmentation of the human mitochondrial genome is related to heterogeneities in the guanine mutation rate." Nucleic Acids Research 31(20):6043-6052.

Samulski, R. J., Chang, L. S. and Shenk, T. (1989). "Helper-free stocks of recombinant adeno-associated viruses: normal integration does not require viral gene expression." Journal of Virology 63(9):3822-3828.

Sandhu, G. S., Patel, V. B., Corbett, J. M., Dunn, M. J., Richardson, P. J. and Preedy, V. R. (1996). "Altered myosin heavy chain in hearts of ethanol exposed rats." Biochemical Society Transactions 24(2):261S.

Sandler, S. and Swenne, I. (1983). "Streptozotocin, but not alloxan, induces DNA repair synthesis in mouse pancreatic islets in vitro." Diabetologia 25(5):444-447.

Sandler, S., Welsh, M. and Andersson, A. (1983). "Streptozotocin-induced impairment of islet B-cell metabolism and its prevention by a hydroxyl radical scavenger and inhibitors of poly(ADP-ribose) synthetase." Acta Pharmacologica et Toxicologica 53(5):392-400.

Sandy, M. S., Langston, J. W., Smith, M. T. and DiMonte, D. A. (1993). "PCR analysis of platelet mtDNA: lack of specific changes in Parkinson's disease." Movement Disorders 8(1):74-82.

Sanford, J. A. and Stubblefield, E. (1987). "General protocol for microcell-mediated chromosome transfer." Somatic Cell & Molecular Genetics 13(3):279-284.

Sanke, T. (1997). "[Development of prediction for NIDDM from a view point of genetics]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(Suppl):362-368.

Sano, T., Ban, K., Ichiki, T., Kobayashi, M., Tanaka, M., Ohno, K. and Ozawa, T. (1993). "Molecular and genetic analyses of two patients with Pearson's marrow-pancreas syndrome." Pediatric Research 34:105-110.

Santachiara-Benerecetti, A. S., Scozzari, R., Semino, O., Torroni, A., Brega, A. and Wallace, D. C. (1988). "Mitochondrial DNA polymorphisms in Italy. II. Molecular analysis of new and rare morphs from Sardinia and Rome." Annals of Human Genetics 52:39-56.

Santachiara-Benerecetti, A. S., Semino, O., Passarino, G., Torroni, A., Brdicka, R., Fellous, M. and Modiano, G. (1993). "The common, near-eastern origin of Ashkenazi and Sephardi Jews supported by Y-chromosome similarity." Annals of Human Genetics 57(Pt 1):55-64.

Santerre, R. F., Allen, N. E., Hobbs, J. N., Jr., Rao, R. N. and Schmidt, R. J. (1984). "Expression of prokaryotic genes for hygromycin B and G418 resistance as dominant-selection markers in mouse L cells." Gene 30(1-3):147-156.

Santorelli, F. M., Mak, S. C., El-Schahawi, M., Casali, C., Shanske, S., Baram, T. Z., Madrid, R. E. and DiMauro, S. (1996). "Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNALys gene (G8363A)." American Journal of Human Genetics 58(5):933-939.

Santorelli, F. M., Mak, S. C., Vazquez-Acevedo, M., Gonzalez-Astiazaran, A., Ridaura-Sanz, C., Gonzalez-Halphen, D. and DiMauro, S. (1995). "A novel mitochondrial DNA point mutation associated with mitochondrial encephalocardiomyopathy." Biochemical & Biophysical Research Communications 216(3):835-840.

Santorelli, F. M., Schlessel, J. S., Slonim, A. E. and DiMauro, S. (1996). "Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death." Pediatric Neurology 15(2):145-149.

Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D. and DiMauro, S. (1993). "A new mtDNA mutation in the ATPase 6 gene in a child with Leigh syndrome." Neurology 43(Suppl):171A.

Santorelli, F. M., Shanske, S., Jain, K. D., Tick, D., Schon, E. A. and DiMauro, S. (1994). "A T-C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome." Neurology 44(5):972-974.

Santorelli, F. M., Shanske, S., Macaya, A., DeVivo, D. C. and DiMauro, S. (1993). "The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome." Annals of Neurology 34:827-834.

Santorelli, F. M., Siciliano, G., Casali, C., Basirico, M. G., Carrozzo, R., Calvosa, F., Sartucci, F., Bonfiglio, L., Murri, L. and DiMauro, S. (1997). "Mitochondrial tRNA(Cys) gene mutation (A5814G): a second family with mitochondrial encephalopathy." Neuromuscular Disorders 7(3):156-159.

Santorelli, F. M., Tanji, K., Kulikova, R., Shanske, S., Vilarinho, L., Hays, A. P. and DiMauro, S. (1997). "Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS." Biochemical & Biophysical Research Communications 238(2):326-328.

Santorelli, F. M., Tanji, K., Manta, P., Casali, C., Krishna, S., Hays, A. P., Mancini, D. M., DiMauro, S. and Hirano, M. (1999). "Maternally inherited cardiomyopathy: an atypical presentation of the mtDNA 12S rRNA gene A1555G mutation [letter]." American Journal of Human Genetics 64(1):295-300.

Santorelli, F. M., Tanji, K., Sano, M., Shanske, S., El-Shahawi, M., Kranz-Eble, P., DiMauro, S. and De Vivo, D. C. (1997). "Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene." Annals of Neurology 42(2):256-260.

Santorelli, F. M., Tanji, K., Shanske, S. and DiMauro, S. (1997). "Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation." Neurology 49(1):270-273.

Santorelli, F. M., Tanji, K., Shanske, S., Krishna, S., Schmidt, R. E., Greenwood, R. S., DiMauro, S. and De Vivo, D. C. (1998). "The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past." Annals of Neurology 44(6):962-964.

Santos, C., Lima, M., Montiel, R., Angles, N., Pires, L., Abade, A. and Aluja, M. P. (2003). "Genetic structure and origin of peopling in the Azores Islands (Portugal): the view from mtDNA." Annals of Human Genetics 67(5):433-456.

Santos, M. and Barrantes, R. (1994). "Direct screening of a mitochondrial DNA deletion valuable for Amerindian evolutionary research." Human Genetics 93(4):435-436.

Santos, M. and Barrantes, R. (1994). "D-loop mtDNA deletion as a unique marker of Chibchan Amerindians [letter; comment]." American Journal of Human Genetics 55(2):413-414.

Santos, M., Ward, R. H. and Barrantes, R. (1994). "mtDNA variation in the Chibcha Amerindian Huetar from Costa Rica." Human Biology 66(6):963-977.

Saraiva, A. A., Borges, M. M., Madeira, M. D., Tavares, M. A. and Paula-Barbosa, M. M. (1985). "Mitochondrial abnormalities in cortical dendrites from patients with Alzheimer's disease." Journal of Submicroscopic Cytology 17(3):459-464.

Saraste, M. (1984). "Location of haem-binding sites in the mitochondrial cytochrome b." FEBS Letters 166(2):367-372.

Saraste, M. (1999). "Oxidative phosphorylation at the fin de siecle." Science 283(5407):1488-1493.

Sartoris, S., Varetto, O., Migone, N., Cappello, N., Piazza, A., Ferrara, G. B. and Ceppellini, R. (1988). "Mitochondrial DNA polymorphism in four Sardinian villages." Annals of Human Genetics 52:327-340.

top of page

Sato, W. and Hayasaka, K. (1994). "A T-to-C substitution at nucleotide 12311 in tRNALeu(CUN) gene may be a mtDNA polymorphism [letter; comment]." Journal of the Neurological Sciences 127(2):236.

Sato, W., Hayasaka, K., Komatsu, K., Sawaishi, Y., Sakemi, K., Shoji, Y. and Takada, G. (1992). "Genetic analysis of three pedigrees of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." American Journal of Human Genetics 50:655-657.

Sato, W., Hayasaka, K., Shoji, Y., Takahashi, T., Takada, G., Saito, M., Fukawa, O. and Wachi, E. (1994). "A mitochondrial tRNA(Leu)(UUR) mutation at 3,256 associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke- like episodes (MELAS)." Biochemistry and Molecular Biology International (Sydney) 33(6):1055-1061.

Sato, W., Tanaka, M., Ohno, K., Yamamoto, T., Takada, G. and Ozawa, T. (1989). "Multiple populations of deleted mitochondrial DNA detected by a novel gene amplification method." Biochemical and Biophysical Research Communications 162:664-672.

Sato, W., Tanaka, M., Sugiyama, S., Hattori, K., Ito, T., Kawaguchi, H., Onozuka, H., Yasuda, H., Ito, K., Takada, G. and Ozawa, T. (1993). "Deletion of mitochondrial DNA in a patient with conduction block." American Heart Journal 125:550-552.

Sauleda, J., Garcia-Palmer, F., Wiesner, R. J., Tarraga, S., Harting, I., Tomas, P., Gomez, C., Saus, C., Palou, A. and Agusti, A. G. (1998). "Cytochrome oxidase activity and mitochondrial gene expression in skeletal muscle of patients with chronic obstructive pulmonary disease." American Journal of Respiratory & Critical Care Medicine 157(5 Pt 1):1413-1417.

Savontaus, M. L. (1995). "mtDNA mutations in Leber's hereditary optic neuropathy." Biochimica et Biophysica Acta 1271(1):261-263.

Sawada, S., Takeda, T., Kakigi, A., Saito, H., Suehiro, T., Nakauchi, Y. and Chikamori, K. (1997). "Audiological findings of sensorineural deafness associated with a mutation in the mitochondrial DNA." American Journal of Otology 18(3):332-335.

Sbisa, E., Tanzariello, F., Reyes, A., Pesole, G. and Saccone, C. (1997). "Mammalian mitochondrial D-loop region structural analysis: identification of new conserved sequences and their functional and evolutionary implications." Gene 205(1-2):125-140.

Schaap, G. H., Van Der Kamp, A. W., Ory, F. G. and Jongkind, J. F. (1979). "Isolation of anucleate cells using a fluorescence activated cell sorter (FACS II)." Experimental Cell Research 122(2):422-426.

Schagger, H., Link, T. A., Engel, W. D. and von Jagow, G. (1986). "Isolation of the eleven protein subunits of the bc1 complex from beef heart." Methods in Enzymology 126:224-237.

Schapira, A. H. (1995). "Nuclear and mitochondrial genetics in Parkinson's disease." Journal of Medical Genetics 32(6):411-414.

Schapira, A. H. (1997). "Mitochondrial disorders." Current Opinion in Neurology 10(1):43-47.

Schapira, A. H. (1997). "Pathogenesis of Parkinson's disease." Baillieres Clinical Neurology 6(1):15-36.

Schapira, A. H. (1998). "Human complex I defects in neurodegenerative diseases." Biochimica et Biophysica Acta 1364(2):261-270.

Schapira, A. H. (1998). "Inborn and induced defects of mitochondria." Archives of Neurology 55(10):1293-1296.

Schapira, A. H. (1998). "Mitochondrial dysfunction in neurodegenerative disorders." Biochimica et Biophysica Acta 1366(1-2):225-233.

Schapira, A. H. (1999). "Mitochondrial disorders [editorial; comment]." Biochimica et Biophysica Acta 1410(2):99-102.

Schapira, A. H. (1999). "Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia [see comments]." Biochimica et Biophysica Acta 1410(2):159-170.

Schapira, A. H. and Cock, H. R. (1999). "Mitochondrial myopathies and encephalomyopathies." European Journal of Clinical Investigation 29(10):886-898.

Schapira, A. H., Cooper, J. M., Dexter, D., Clark, J. B., Jenner, P. and Marsden, C. D. (1990). "Mitochondrial complex I deficiency in Parkinson's disease." Journal of Neurochemistry 54:823-827.

Schapira, A. H., Cooper, J. M., Dexter, D., Jenner, P., Clark, J. B. and Marsden, C. D. (1989). "Mitochondrial complex I deficiency in Parkinson's disease." Lancet 1:1269.

Schapira, A. H., Gu, M., Taanman, J. W., Tabrizi, S. J., Seaton, T., Cleeter, M. and Cooper, J. M. (1998). "Mitochondria in the etiology and pathogenesis of Parkinson's disease." Annals of Neurology 44(3 Suppl 1):S89-S98.

Schapira, A. H., Holt, I. J., Sweeney, M., Harding, A. E., Jenner, P. and Marsden, C. D. (1990). "Mitochondrial DNA analysis in Parkinson's disease." Movement Disorders 5(4):294-297.

Schapira, A. H., Mann, V. M., Cooper, J. M., Krige, D., Jenner, P. J. and Marsden, C. D. (1992). "Mitochondrial function in Parkinson's disease." Annals of Neurology 32:S116-124.

Schapira, A. H. V. (1992). "Mitochondrial abnormalities in neurodegeneration and normal aging." In Mitochondrial DNA in Human Pathology: 159-172; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Schapira, A. H. V. (1994). "Evidence for mitochondria dysfunction in Parkinson's disease--a critical appraisal." Movement Disorders 9:125-138.

Scharfe, C., Zaccaria, P., Hoertnagel, K., Jaksch, M., Klopstock, T., Lill, R., Prokisch, H., Gerbitz, K. D., Mewes, H. W. and Meitinger, T. (1999). "MITOP: database for mitochondria-related proteins, genes and diseases." Nucleic Acids Research 27(1):153-155.

Schatz, G. (1996). "The protein import system of mitochondria." Journal of Biological Chemistry 271(50):31763-31766.

Schatz, G. and Dobberstein, B. (1996). "Common principles of protein translocation across membranes." Science 271(5255):1519-1526.

Schellenberg, G. D., Bird, T. D., Wijsman, E. M., Orr, H. T., Anderson, L., Nemens, E., White, J. A., Bonnycastle, L., Weber, J. L., Alonso, M., Potter, H., Heston, L. L. and Martin, G. M. (1992). "Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14." Science 258(5082):668-671.

Schena, M., Shalon, D., Davis, R. W. and Brown, P. O. (1995). "Quantitative monitoring of gene expression patterns with a complementary DNA microarray [see comments]." Science 270(5235):467-470.

Schena, M., Shalon, D., Heller, R., Chai, A., Brown, P. O. and Davis, R. W. (1996). "Parallel human genome analysis: microarray-based expression monitoring of 1000 genes." Proceedings of the National Academy of Sciences of the United States of America 93(20):10614-10619.

Schiebel, K., Mertz, A., Winkelmann, M., Nagaraja, R. and Rappold, G. (1994). "Localization of the adenine nucleotide translocase gene ANT2 to chromosome Xq24-q25 with tight linkage to DXS425." Genomics 24(3):605-606.

Schiebel, K., Weiss, B., Wohrle, D. and Rappold, G. (1993). "A human pseudoautosomal gene, ADP/ATP translocase, escapes X-inactivation whereas a homologue on Xq is subject to X-inactivation." Nature Genetics 3(1):82-87.

Schleiff, E. and Turnbull, J. L. (1998). "Functional and structural properties of the mitochondrial outer membrane receptor Tom20." Biochemistry 37(38):13043-13051.

Schlesinger, P. H., Gross, A., Yin, X. M., Yamamoto, K., Saito, M., Waksman, G. and Korsmeyer, S. J. (1997). "Comparison of the ion channel characteristics of proapoptotic BAX and antiapoptotic BCL-2." Proceedings of the National Academy of Sciences of the United States of America 94(21):11357-11362.

Schoemaker, H., Boles, R. G., Horst, W. D. and Yamamura, H. I. (1983). "Specific high-affinity binding sites for [3H]Ro 5-4864 in rat brain and kidney." Journal of Pharmacology and Experimental Therapeutics 225(1):61-69.

Schofield, P. R., Darlison, M. G., Fujita, N., Burt, D. R., Stephenson, F. A., Rodriguez, H., Rhee, L. M., Ramachandran, J., Reale, V., Glencorse, T. A., Seeburg, P. H. and Barnard, E. A. (1987). "Sequence and functional expression of the GABA A receptor shows a ligand-gated receptor super-family." Nature 328(6127):221-227.

Schollen, E., Vandenberk, P., Cassiman, J. J. and Matthijs, G. (1997). "Development of reverse dot-blot system for screening of mitochondrial DNA mutations associated with Leber hereditary optic atrofia." Clinical Chemistry 43(1):18-23.

Schon, E. A., Bonilla, E. and DiMauro, S. (1997). "Mitochondrial DNA mutations and pathogenesis." Journal of Bioenergetics & Biomembranes 29(2):131-149.

Schon, E. A. and Grossman, M. H. (1998). "Mitochondrial diseases: genetics." Biofactors 7(3):191-195.

Schon, E. A., Hirano, M. and DiMauro, S. (1994). "Mitochondrial encephalomyopathies: clinical and molecular analysis." Journal of Bioenergetics and Biomembranes 26(3):291-299.

Schon, E. A., Koga, Y., Davidson, M., Moraes, C. T. and King, M. P. (1992). "The mitochondrial tRNALeu(UUR) mutation in MELAS: a model for pathogenesis." Biochimica et Biophysica Acta 1101:206-209.

Schon, E. A., Rizzuto, R., Moraes, C. T., Nakase, H., Zeviani, M. and DiMauro, S. (1989). "A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA." Science 244(4902):346-349.

Schon, E. A., Shoubridge, E. A. and Moraes, C. T. (1998). "Cybrids in Alzheimer's disease: a cellular model of the disease? [letter; comment]." Neurology 51(1):326-327.

Schreiber, S. S. (1989). "Ethanol, acetaldehyde and cardiac protein synthesis: the relation to cardiomyopathy." British Journal of Addiction 84(2):133-139.

Schreiber, S. S., Briden, K., Oratz, M. and Rothschild, M. A. (1972). "Ethanol, acetaldehyde, and myocardial protein synthesis." Journal of Clinical Investigation 51(11):2820-2826.

Schreiber, S. S., Evans, C. D., Reff, F., Rothschild, M. A. and Oratz, M. (1982). "Prolonged feeding of ethanol to the young growing guinea pig: 1. The effect on protein synthesis in the afterloaded right ventricle measured in vitro." Alcoholism: Clinical and Experimental Research 6(3):384-390.

Schreiber, S. S., Oratz, M., Rothschild, M. A., Reff, F. and Evans, C. (1974). "Alcoholic cardiomyopathy. II. The inhibition of cardiac microsomal protein synthesis by acetaldehyde." Journal of Molecular and Cellular Cardiology 6(2):207-213.

top of page

Schuelke, M., Bakker, M., Stoltenburg, G., Sperner, J. and von Moers, A. (1998). "Epilepsia partialis continua associated with a homoplasmic mitochondrial tRNA(Ser(UCN)) mutation." Annals of Neurology 44(4):700-704.

Schuelke, M., Krude, H., Finckh, B., Mayatepek, E., Janssen, A., Schmelz, M., Trefz, F., Trijbels, F. and Smeitink, J. (2002). "Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation." Annals of Neurology 51(3):388-392.

Schuelke, M., Loeffen, J., Mariman, E., Smeitink, J. and van den Heuvel, L. (1998). "Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma- interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?" Biochemical and Biophysical Research Communications 245(2):599-606.

Schuelke, M., Smeitink, J., Mariman, E., Loeffen, J., Plecko, B., Trijbels, F., Stockler-Ipsiroglu, S. and van den Heuvel, L. (1999). "Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy [letter]." Nature Genetics 21(3):260-261.

Schultheiss, H. P., Schulze, K. and Dorner, A. (1996). "Significance of the adenine nucleotide translocator in the pathogenesis of viral heart disease." Molecular and Cellular Biochemistry 163-164:319-327.

Schultheiss, H. P., Schulze, K., Schauer, R., Witzenbichler, B. and Strauer, B. E. (1995). "Antibody-mediated imbalance of myocardial energy metabolism. A causal factor of cardiac failure?" Circulation Research 76(1):64-72.

Schulz, J. B., Klockgether, T., Dichgans, J., Seibel, P. and Reichmann, H. (1993). "Mitochondrial gene mutations and diabetes mellitus [letter]." Lancet 341:438-439.

Schurr, T. G., Ballinger, S. W., Gan, Y. Y., Hodge, J. A., Merriwether, D. A., Lawrence, D. N., Knowler, W. C., Weiss, K. M. and Wallace, D. C. (1990). "Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages." American Journal of Human Genetics 46(3):613-623.

Schurr, T. G., Sukernik, R. I., Starikovskaya, Y. B. and Wallace, D. C. (1999). "Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic." American Journal of Physical Anthropology 108(1):1-39.

Sciacco, M., Bonilla, E., Schon, E. A., DiMauro, S. and Moraes, C. T. (1994). "Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy (published erratum appears in Hum. Mol. Genet. 3(4):687, 1994)." Human Molecular Genetics 3(1):13-19.

Scott, A. B. (1981). "Botulinum toxin injection of eye muscles to correct strabismus." Transactions of the American Ophthalmological Society 79:734-770.

Scott, A. B., Magoon, E. H., McNeer, K. W. and Stager, D. R. (1989). "Botulinum treatment of strabismus in children." Transactions of the American Ophthalmological Society 87:174-184.

Scozzari, R., Cruciani, F., Santolamazza, P., Malaspina, P., Torroni, A., Sellitto, D., Arredi, B., Destro-Bisol, G., De Stefano, G., Rickards, O., Martinez-Labarga, C., Modiano, D., Biondi, G., Moral, P., Olckers, A., Wallace, D. C. and Novelletto, A. (1999). "Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations." American Journal of Human Genetics 65(3):829-846.

Scozzari, R., Torroni, A., Semino, O., Cruciani, F., Spedini, G. and Santachiara-Benerecetti, A. S. (1994). "Genetic studies in Cameroon: mitochondrial DNA polymorphisms in Bamileke." Human Biology 66(1):1-12.

Scozzari, R., Torroni, A., Semino, O., Sirugo, G., Brega, A. and Santachiara Benerecetti, A. S. (1988). "Genetic studies on the Senegal population. I. Mitochondrial DNA polymorphisms." American Journal of Human Genetics 43:534-544.

Scrimshaw, B. J., Faed, J. M., Tate, W. P. and Yun, K. (1999). "The frequency in New Zealand of a mitochondrial DNA mutation (1555 A to G) associated with aminoglycoside-induced hearing loss [letter]." New Zealand Medical Journal 112(1089):216-217.

Seccombe, J. F., Pearson, P. J. and Schaff, H. V. (1994). "Oxygen radical-mediated vascular injury selectively inhibits receptor-dependent release of nitric oxide from canine coronary arteries." Journal of Thoracic and Cardiovascular Surgery 107(2):505-509.

Seedorff, T. (1985). "The inheritance of Leber's disease. A genealogical follow-up study." Acta Ophthalmologica (Copenhagen) 63(2):135-145.

Seibel, P., Degoul, F., Bonne, G., Romero, N., Francois, D., Paturneau-Jouas, M., Ziegler, F., Eymard, B., Fardeau, M., Marsac, C. and Kadenback, B. (1991). "Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF)." Journal of the Neurological Sciences 105(2):217-224.

Seibel, P., Lauber, J., Klopstock, T., Marsac, C., Kadenbach, B. and Reichmann, H. (1994). "Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNAAsn gene." Biochemical and Biophysical Research Communications 204(2):482-489.

Seibel, P., Trappe, J., Villani, G., Klopstock, T., Papa, S. and Reichmann, H. (1995). "Transfection of mitochondria: strategy towards a gene therapy of mitochondrial DNA diseases." Nucleic Acids Research 23(1):10-17.

Seielstad, M., Bekele, E., Ibrahim, M., Toure, A. and Traore, M. (1999). "A view of modern human origins from Y chromosome microsatellite variation." Genome Research 9(6):558-567.

Seielstad, M., Yuldasheva, N., Singh, N., Underhill, P., Oefner, P., Shen, P. and Wells, R. S. (2003). "A novel y-chromosome variant puts an upper limit on the timing of first entry into the Americas." American Journal of Human Genetics 73(3):700-705.

Seki, A., Nishino, I., Goto, Y., Maegaki, Y. and Koeda, T. (1997). "Mitochondrial encephalomyopathy with 15915 mutation: clinical report." Pediatric Neurology 17(2):161-164.

Sekiguchi, K., Kasai, K. and Levin, B. C. (2003). "Inter- and intragenerational transmission of a human mitochondrial DNA heteroplasmy among 13 maternally-related individuals and differences between and within tissues in two family members." Mitochondrion 2(6):401-414.

Selkoe, D. J. (1995). "Alzheimer's disease. Missense on the membrane." Nature 375(6534):734-735.

Seller, A., Kennedy, C. R., Temple, I. K. and Brown, G. K. (1997). "Leigh syndrome resulting from de novo mutation at position 8993 of mitochondrial DNA." Journal of Inherited Metabolic Disease 20(1):102-103.

Semino, O., Torroni, A., Scozzari, R., Brega, A., DeBenedictis, G. and Santachiara Benerecetti, A. S. (1989). "Mitochondrial DNA polymorphisms in Italy. III. Population data from Sicily: a possible quantitation of maternal African ancestry." Annals of Human Genetics 53:193-202.

Semino, O., Torroni, A., Scozzari, R., Brega, A. and Santachiara Benerecetti, A. S. (1991). "Mitochondrial DNA polymorphisms among Hindus: a comparison with the Tharus of Nepal." Annals of Human Genetics 55:123-136.

Seneca, S., De Meirleir, L., De Schepper, J., Balduck, N., Jochmans, K., Liebaers, I. and Lissens, W. (1997). "Pearson marrow pancreas syndrome: a molecular study and clinical management." Clinical Genetics 51(5):338-342.

Seneca, S., de Meirleir, L., Liebaers, I. and Lissens, W. (1995). "Importance of sequence analysis in NARP syndrome." Journal of Inherited Metabolic Disease 18(1):97-98.

Seneca, S., Lissens, W., Liebaers, I., van den Bergh, P., Nassogne, M. C., Benatar, A. and de Meirleir, L. (1998). "Pitfalls in the diagnosis of mtDNA mutations [letter]." Journal of Medical Genetics 35(11):963-964.

Sener, A. and Malaisse, W. J. (1987). "Stimulation by D-glucose of mitochondrial oxidative events in islet cells." Biochemical Journal 246(1):89-95.

Seo, Y., Stradmann-Bellinghausen, B., Rittner, C., Takahama, K. and Schneider, P. M. (1998). "Sequence polymorphism of mitochondrial DNA control region in Japanese." Forensic Science International 97(2-3):155-164.

Sepehrnia, B., Prezant, T. R., Rotter, J. I., Pettitt, D. J., Knowler, W. C. and Fischel-Ghodsian, N. (1995). "Screening for mtDNA diabetes mutations in Pima Indians with NIDDM." American Journal of Medical Genetics 56(2):198-202.

Servidei, S. (2002). "Mitochondrial encephalomyopathies:gene mutation." Neuromuscular Disorders 12(5):524-529.

Sevior, K. B., Hatamochi, A., Stewart, I. A., Bykhovskaya, Y., Allen-Powell, D. R., Fischel-Ghodsian, N. and Maw, M. A. (1998). "Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness." American Journal of Medical Genetics 75(2):179-185.

Shaag, A., Saada, A., Steinberg, A., Navon, P. and Elpeleg, O. N. (1997). "Mitochondrial encephalomyopathy associated with a novel mutation in the mitochondrial tRNA(leu)(UUR) gene (A3243T)." Biochemical & Biophysical Research Communications 233(3):637-639.

Shadel, G. S. (1999). "Yeast as a model for human mtDNA replication." American Journal of Human Genetics 65(5):1230-1237.

Shah, Z. H., Migliosi, V., Miller, S. C., Wang, A., Friedman, T. B. and Jacobs, H. T. (1998). "Chromosomal locations of three human nuclear genes (RPSM12, TUFM, and AFG3L1) specifying putative components of the mitochondrial gene expression apparatus." Genomics 48(3):384-388.

Shan, D. E., Yeh, S. I., Wan, Y. C. and Wei, Y. H. (1995). "Absence of 4,977-bp deletion of blood cell mitochondrial DNA in patients with young-onset Parkinson's disease." Acta Neurologica Scandinavica 91(2):149-152.

Shang, J. and Clayton, D. A. (1994). "Human mitochondrial transcription termination exhibits RNA polymerase independence and biased bipolarity in vitro." Journal of Biological Chemistry 269(46):29112-29120.

Shanske, S. and DiMauro, S. (1997). "Diagnosis of the mitochondrial encephalomyopathies." Current Opinion in Rheumatology 9(6):496-503.

Shanske, S., Moraes, C. T., Lombes, A., Miranda, A. F., Bonilla, E., Lewis, P., Whelan, M. A., Ellsworth, C. A. and DiMauro, S. (1990). "Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome." Neurology 40:24-28.

Sharma, P., Rupar, C. A. and Rip, J. W. (1998). "Consequences of aging on mitochondrial respiratory chain enzymes in cultured human fibroblasts treated with ascorbate." Gerontology 44(2):78-84.

Sheehan, J. P., Swerdlow, R. H., Miller, S. W., Davis, R. E., Parks, J. K., Parker, W. D. and Tuttle, J. B. (1997). "Calcium homeostasis and reactive oxygen species production in cells transformed by mitochondria from individuals with sporadic Alzheimer's disease." Journal of Neuroscience 17(12):4612-4622.

Shenkar, R., Navidi, W., Tavare, S., Dang, M. H., Chomyn, A., Attardi, G., Cortopassi, G. and Arnheim, N. (1996). "The mutation rate of the human mtDNA deletion mtDNA4977." American Journal of Human Genetics 59(4):772-780.

Sher, E. S., Xu, X. M., Adams, P. M., Craft, C. M. and Stein, S. A. (1998). "The effects of thyroid hormone level and action in developing brain: are these targets for the actions of polychlorinated biphenyls and dioxins?" Toxicology & Industrial Health 14(1-2):121-158.

Sherman, L., Dafni, N., Lieman-Hurwitz, J. and Groner, Y. (1983). "Nucleotide sequence and expression of human chromosome 21-encoded superoxide dismutase mRNA." Proceedings of the National Academy of Sciences of the United States of America 80(18):5465-5469.

Sherratt, E. J., Thomas, A. W. and Alcolado, J. C. (1997). "Mitochondrial DNA defects: a widening clinical spectrum of disorders [editorial]." Clinical Science 92(3):225-235.

Sherratt, E. J., Thomas, A. W., Gagg, J. W., Majid, A. and Alcolado, J. C. (1999). "Mitochondrial DNA variations in patients with Type 2 (non-insulin dependent) diabetes mellitus and a Welsh control population. Mutation in brief no. 239. Online." Human Mutation 13(5):412-413.

Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., et al. (1995). "Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease [see comments]." Nature 375(6534):754-760.

Sheu, K. F., Kim, Y. T., Blass, J. P. and Weksler, M. E. (1985). "An immunochemical study of the pyruvate dehydrogenase deficit in Alzheimer's disease brain." Annals of Neurology 17(5):444-449.

Shields, G. F., Hecker, K., Voevoda, M. I. and Reed, J. K. (1992). "Absence of the Asian-specific region V mitochondrial marker in native Beringians." American Journal of Human Genetics 50:758-765.

top of page

Shields, G. F., Schmiechen, A. M., Frazier, B.L., Redd, A., Voevoda, M. I., Reed, J. K. and Ward, R. H. (1993). "MtDNA sequences suggest a recent evolutionary divergence for Beringian and northern North American populations." American Journal of Human Genetics 53:549-562.

Shigemoto, M., Yoshimasa, Y., Yamamoto, Y., Hayashi, T., Suga, J., Inoue, G., Okamoto, M., Jingami, H., Tsuda, K., Yamamoto, T., Yagura, T., Oishi, M., Tsujii, S., Kuzuya, H. and Nakao, K. (1998). "Clinical manifestations due to a point mutation of the mitochondrial tRNAleu(UUR) gene in five families with diabetes mellitus." Internal Medicine 37(3):265-272.

Shin, C. S., Kim, S. K., Park, K. S., Kim, W. B., Kim, S. Y., Cho, B. Y., Lee, H. K., Koh, C. S., Shin, C. H. and Lee, J. B. (1998). "A new point mutation (3426, A to G) in mitochondrial NADH dehydrogenase gene in Korean diabetic patients which mimics 3243 mutation by restriction fragment length polymorphism pattern." Endocrine Journal 45(1):105-110.

Shiotani, H., Ueno, H., Inoue, S., Yokota, Y. and Yokoyama, M. (1998). "Diabetes mellitus and cardiomyopathy--association with mutation in the mitochondrial tRNA(Leu)(UUR) gene." Japanese Circulation Journal 62(4):309-310.

Shiraiwa, N., Ishii, A., Iwamoto, H., Mizusawa, H., Kagawa, Y. and Ohta, S. (1993). "Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies." Journal of the Neurological Sciences 120:174-179.

Shoffner, J. M., Bialer, M. G., Pavlakis, S. G., Lott, M. T., Kaufman, A., Dixon, J., Teichberg, S. and Wallace, D. C. (1995). "Mitochondrial encephalomyopathy associated with a single nucleotide pair deletion in the mitochondrial tRNALeu(UUR) gene." Neurology 45(2):286-292.

Shoffner, J. M., Brown, M., Huoponen, K., Stugard, C., Koontz, D., Kaufman, A., Graham, J., Dixon, J. and Wallace, D. C. (1994). "A mitochondrial DNA (mtDNA) mutation associated with maternally inherited Parkinson's disease (PD) and deafness." American Journal of Human Genetics 55:A242 (abstract 1417).

Shoffner, J. M., Brown, M. D., Stugard, C., Jun, A. S., Pollok, S., Haas, R. H., Kaufman, A., Koontz, D., Kim, Y., Graham, J., Smith, E., Dixon, J. and Wallace, D. C. (1995). "Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation in a complex I subunit." Annals of Neurology 38(2):163-169.

Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. R., Mirra, S. S., Beal, M. F., Yang, C., Gearing, M., Salvo, R., Watts, R. L., Juncos, J. L., Hansen, L. A., Crain, B. J., Fayad, M., Reckord, C. L. and Wallace, D. C. (1993). "Mitochondrial DNA variants observed in Alzheimer disease and Parkinson disease patients." Genomics 17:171-184.

Shoffner, J. M., Fernhoff, M. D., Krawiecki, N. S., Caplan, D. B., Holt, P. J., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., Ballinger, S. W., Lott, M. T. and Wallace, D. C. (1992). "Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation." Neurology 42(11):2168-2174.

Shoffner, J. M., Kaufman, A., Koontz, D., Krawiecki, N., Smith, E., Topp, M. and Wallace, D. C. (1995). "Oxidative phosphorylation diseases and cerebellar ataxia." Clinical Neuroscience 3(1):43-53.

Shoffner, J. M., Krawiecki, N., Cabell, M. F., Torroni, A. and Wallace, D. C. (1993). "A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy." American Journal of Human Genetics 53(Suppl.):949.

Shoffner, J. M., Lott, M. T., Lezza, A. M., Seibel, P., Ballinger, S. W. and Wallace, D. C. (1990). "Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNALys mutation." Cell 61(6):931-937.

Shoffner, J. M., Lott, M. T., Voljavec, A. S., Soueidan, S. A., Costigan, D. A. and Wallace, D. C. (1989). "Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy." Proceedings of the National Academy of Sciences of the United States of America 86(20):7952-7956.

Shoffner, J. M., Lott, M. T. and Wallace, D. C. (1991). "MERRF: A model disease for understanding the principles of mitochondrial genetics." Revue Neurologique (Paris) 147(6-7):431-435.

Shoffner, J. M. and Wallace, D. C. (1990). "Oxidative phosphorylation diseases. Disorders of two genomes." In Advances in Human Genetics 19: 267-330; Plenum Publishing Corp. Harris, H. and Hirschhorn, K., Eds.

Shoffner, J. M. and Wallace, D. C. (1992). "Mitochondrial genetics: principles and practice." American Journal of Human Genetics 51:1179-1186.

Shoffner, J. M. and Wallace, D. C. (1993). "Oxidative phosphorylation diseases and stroke." Heart Disease and Stroke 2(5):439-445.

Shoffner, J. M. and Wallace, D. C. (1994). "Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment." Annual Review of Nutrition 14:535-568.

Shoffner, J. M. and Wallace, D. C. (1995). "Oxidative phosphorylation diseases." In The Metabolic and Molecular Basis of Inherited Disease: 1535-1609; New York, McGraw-Hill. Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D., Eds.

Shoffner, J. M., Watts, R. L., Juncos, J. L., Torroni, A. and Wallace, D. C. (1991). "Mitochondrial oxidative phosphorylation defects in Parkinson Disease." Annals of Neurology 30:332-339.

Shoji, Y., Sato, W., Hayasaka, K. and Takada, G. (1993). "Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)." Journal of Inherited Metabolic Disease 16:27-30.

Shoubridge, E. A. (1992). "Molecular histology of mitochondrial diseases." In Mitochondrial DNA in Human Pathology: 109-123; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Shoubridge, E. A. (1994). "Mitochondrial DNA diseases: histological and cellular studies." Journal of Bioenergetics and Biomembranes 26(3):301-309.

Shoubridge, E. A. (1995). "Segregation of mitochondrial DNAs carrying a pathogenic point mutation (tRNALeu3243) in cybrid cells." Biochemical and Biophysical Research Communications 213(1):189-195.

Shoubridge, E. A. (1998). "Mitochondrial encephalomyopathies." Current Opinion in Neurology 11(5):491-496.

Shoubridge, E. A., Johns, T. and Karpati, G. (1997). "Complete restoration of a wild-type mtDNA genotype in regenerating muscle fibres in a patient with a tRNA point mutation and mitochondrial encephalomyopathy." Human Molecular Genetics 6(13):2239-2242.

Shoubridge, E. A., Karpati, G. and Hastings, K. E. M. (1990). "Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease." Cell 62(1):43-49.

Shtilbans, A., El-Schahawi, M., Malkin, E., Shanske, S., Musumeci, O. and DiMauro, S. (1999). "A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression." Journal of Child Neurology 14(9):610-613.

Shuster, R. C., Rubenstein, A. J. and Wallace, D. C. (1988). "Mitochondrial DNA in anucleate human blood cells." Biochemical and Biophysical Research Communications 155(3):1360-1365.

Siciliano, G., Rossi, B., Manca, L., Angelini, C., Tessa, A., Vergani, L., Martinuzzi, A. and Muratorio, A. (1996). "Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia." Muscle & Nerve 19(3):342-349.

Siddiq, T., Richardson, P. J., Morton, J., Smith, B., Sherwood, R. A., Marway, J. S. and Preedy, V. R. (1993). "Rates of protein synthesis in different regions of the normotensive and hypertrophied heart in response to acute alcohol toxicity." Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism 28(3):297-310.

Siddiq, T., Salisbury, J. R., Richardson, P. J. and Preedy, V. R. (1993). "Synthesis of ventricular mitochondrial proteins in vivo: effect of acute ethanol toxicity." Alcoholism: Clinical and Experimental Research 17(4):894-899.

Siena, S., Bregni, M., Brando, B., Ravagnani, F., Bonadonna, G. and Gianni, A. M. (1989). "Circulation of CD34+ hematopoietic stem cells in the peripheral blood of high-dose cyclophosphamide-treated patients: enhancement by intravenous recombinant human granulocyte-macrophage colony-stimulating factor." Blood 74(6):1905-1914.

Sigurgardottir, S., Helgason, A., Gulcher, J. R., Stefansson, K. and Donnelly, P. (2000). "The mutation rate in the human mtDNA control region." American Journal of Human Genetics 66(5):1599-1609.

Silva, J. P., Kohler, M., Graff, C., Oldfors, A., Magnuson, M. A., Berggren, P. O. and Larsson, N. G. (2000). "Impaired insulin secretion and beta-cell loss in tissue-specific knockout mice with mitochondrial diabetes." Nature Genetics 26(3):336-340.

Silva, W. A., Jr., Bonatto, S. L., Holanda, A. J., Ribeiro-Dos-Santos, A. K., Paixao, B. M., Goldman, G. H., Abe-Sandes, K., Rodriguez-Delfin, L., Barbosa, M., Paco-Larson, M. L., Petzl-Erler, M. L., Valente, V., Santos, S. E. and Zago, M. A. (2002). "Mitochondrial genome diversity of Native Americans supports a single early entry of founder populations into America. [Major data corrections in Am. J. Hum. Genet.72(5)1341-1349.]." American Journal of Human Genetics 71(1):187-192.

Silva, W. A., Jr., Bonatto, S. L., Holanda, A. J., Ribeiro-Dos-Santos, A. K., Paixao, B. M., Goldman, G. H., Abe-Sandes, K., Rodriguez-Delfin, L., Barbosa, M., Paco-Larson, M. L., Petzl-Erler, M. L., Valente, V., Santos, S. E. and Zago, M. A. (2003). "Correction: mitochondrial DNA variation in Amerindians." American Journal of Human Genetics 72(5):1346-1349; in response to 1341-1346.

Silvestri, G., Bertini, E., Servidei, S., Rana, M., Zachara, E., Ricci, E. and Tonali, P. (1997). "Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt 3243 of mitochondrial DNA (MELAS mutation)." Muscle and Nerve 20(2):221-225.

Silvestri, G., Ciafaloni, E., Santorelli, F. M., Shanske, S., Servidei, S., Graf, W. D., Sumi, M. and DiMauro, S. (1993). "Clinical features associated with the A-G transition at nucleotide 8344 of mtDNA ('MERRF mutation')." Neurology 43(6):1200-1206.

Silvestri, G., Johnston, P. B. and Hughes, A. E. (1994). "Is genetic predisposition an important risk factor in age-related macular degeneration?" Eye 8(Pt 5):564-568.

Silvestri, G., Mongini, T., Odoardi, F., Modoni, A., deRosa, G., Doriguzzi, C., Palmucci, L., Tonali, P. and Servidei, S. (2000). "A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency." Neurology 54(8):1693-1696.

Silvestri, G., Moraes, C. T., Shanske, S., Oh, S. J. and DiMauro, S. (1992). "A new mtDNA mutation in the tRNALys gene associated with myoclonic epilepsy and ragged red fibers (MERRF)." American Journal of Human Genetics 51(6):1213-1217.

Silvestri, G., Rana, M., DiMuzio, A., Uncini, A., Tonali, P. and Servidei, S. (1998). "A late-onset mitochondrial myopathy is associated with a novel mtDNApoint mutation in the tRNA(Trp) gene." Neuromuscular Disorders 8(5):291-295.

Silvestri, G., Santorelli, F. M., Shanske, S., Whitley, C. B., Schimmenti, L. A., Smith, S. A. and DiMauro, S. (1994). "A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy." Human Mutation 3(1):37-43.

Silvestri, G., Servidei, S., Rana, M., Ricci, E., Spinazzola, A., Paris, E. and Tonali, P. (1996). "A novel mitochondrial DNA point mutation in the tRNA(Ile) gene is associated with progressive external ophtalmoplegia." Biochemical and Biophysical Research Communications 220(3):623-627.

Simon, D. K., Mayeux, R., Marder, K., Kowall, N. W., Beal, M. F. and Johns, D. R. (1999). "Mitochondrial DNA mutations in complex I and tRNA genes in Parkinson's disease." Neurology 54(3):703-709.

Simon, D. K., Pulst, S. M., Sutton, J. P., Browne, S. E., Beal, M. F. and Johns, D. R. (1999). "Familial multisystem degeneration with parkinsonism associated with the 11778 mitochondrial DNA mutation." Neurology 53(8):1787-1793.

Simonetti, S., Chen, X., DiMauro, S. and Schon, E. A. (1992). "Accumulation of deletions in human mitochondrial DNA during normal aging: analysis by quantitative PCR." Biochimica et Biophysica Acta 1180(2):113-122.

Simonsz, H. J., Barlocher, K. and Rotig, A. (1992). "Kearns-Sayre's syndrome developing in a boy who survived Pearson's syndrome caused by mitochondrial DNA deletion." Documenta Ophthalmologica 82:73-79.

Simpson, T. A. and Smith, R. J. (1995). "Amplification of mitochondrial DNA from archival temporal bone specimens." Laryngoscope 105(1):28-34.

Sims, N. R., Finegan, J. M., Blass, J. P., Bowen, D. M. and Neary, D. (1987). "Mitochondrial function in brain tissue in primary degenerative dementia." Brain Research 436:30-38.

Singer, T. P., Castagnoli, N., Jr. , Ramsay, R. R. and Trevor, A. J. (1987). "Biochemical events in the development of parkinsonism induced by 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine." Journal of Neurochemistry 49(1):1-8.

Singh, G., Lott, M. T. and Wallace, D. C. (1989). "A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy." New England Journal of Medicine 320(20):1300-1305.

Singh, G., Neckelmann, N. and Wallace, D. C. (1987). "Conformational mutations in human mitochondrial DNA." Nature 329:270-272.

Siregar, N. C., Jean-Francois, M. J., Blok, R. B. and Byrne, E. (1998). "Genotypic and phenotypic changes in exhaustively grown cell lines from mitochondrial cytopathy patients." Muscle & Nerve 21(5):599-609.

top of page

Sirrenberg, C., Endres, M., Folsch, H., Stuart, R. A., Neupert, W. and Brunner, M. (1998). "Carrier protein import into mitochondria mediated by the intermembrane proteins Tim10/Mrs11 and Tim12/Mrs5." Nature 391(6670):912-915.

Skehel, J. M., Fearnley, I. M. and Walker, J. E. (1998). "NADH:ubiquinone oxidoreductase from bovine heart mitochondria: sequence of a novel 17.2-kDa subunit." FEBS Letters 438(3):301-305.

Skulachev, V. P. (1996). "Why are mitochondria involved in apoptosis? Permeability transition pores and apoptosis as selective mechanisms to eliminate superoxide- producing mitochondria and cell." FEBS Letters 397(1):7-10.

Skulachev, V. P. (1998). "Uncoupling: new approaches to an old problem of bioenergetics." Biochimica et Biophysica Acta 1363(2):100-124.

Slade, R. W., Moritz, C., Hoelzel, A. R. and Burton, H. R. (1998). "Molecular population genetics of the southern elephant seal Mirounga leonina." Genetics 149(4):1945-1957.

Slim, R., Levilliers, J., Ludecke, H. J., Claussen, U., Nguyen, V. C., Gough, N. M., Horsthemke, B. and Petit, C. (1993). "A human pseudoautosomal gene encodes the ANT3 ADP/ATP translocase and escapes X-inactivation." Genomics 16(1):26-33.

Sligh, J.E., Levy, S.E., Waymire, K.G., Allard, P., Dillehay, D.L., Nusinowitz, S., Heckenlively, J.R., MacGregor, G.R. and Wallace, D.C. (2000). "Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice." Proceedings of the National Academy of Sciences of the United States of America 97(26):14461-14466.

Smeitink, J., Loeffen, J., Smeets, R., Triepels, R., Ruitenbeek, W., Trijbels, F. and van den Heuvel, L. (1998). "Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I." Human Genetics 103(2):245-250.

Smeitink, J. and van den Heuvel, L. (1999). "Protein Biosynthesis '99. Human mitochondrial complex I in health and disease." American Journal of Human Genetics 4(6):1505-1510.

Smirnova, E., Shurland, D. L., Ryazantsev, S. N. and van der Bliek, A. M. (1998). "A human dynamin-related protein controls the distribution of mitochondria." Journal of Cell Biology 143(2):351-358.

Smith, C. A., Gough, A. C., Leigh, P. N., Summers, B. A., Harding, A. E., Maraganore, D. M., Sturman, S. G., Schapira, A. H., Williams, A. C., Spurr, N. K. and Wolf, C. R. (1992). "Debrisoquine hydroxylase gene polymorphism and susceptibility to Parkinson's disease (published erratum appears in Lancet 1992;340(8810):64)." Lancet 339(8806):1375-1377.

Smith, C. D., Carney, J. M., Starke-Reed, P. E., Oliver, C. N., Stadtman, E. R., Floyd, R. A. and Markesbery, W. R. (1991). "Excess brain protein oxidation and enzyme dysfunction in normal aging and in Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 88(23):10540-10543.

Smith, K. H., Johns, D. R., Heher, K. L. and Miller, N. R. (1993). "Heteroplasmy in Leber's hereditary optic neuropathy." Archives of Ophthalmology 111(11):1486-1490.

Smith, M. L., Hua, X. Y., Marsden, D. L., Liu, D., Kennaway, N. G., Ngo, K. Y. and Haas, R. H. (1997). "Diabetes and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS): radiolabeled polymerase chain reaction is necessary for accurate detection of low percentages of mutation." Journal of Clinical Endocrinology & Metabolism 82(9):2826-2831.

Smith, O. P., Hann, I. M., Woodward, C. E. and Brockington, M. (1995). "Pearson's marrow/pancreas syndrome: haematological features associated with deletion and duplication of mitochondrial DNA." British Journal of Haematology 90(2):469-472.

Smith, P. R., Cooper, J. M., Govan, G. G., Harding, A. E. and Schapira, A. H. (1994). "Platelet mitochondrial function in Leber's hereditary optic neuropathy." Journal of the Neurological Sciences 122(1):80-83.

Smith, P. R., Dronsfield, M. J., Mijovic, C. H., Hattersley, A. T., Yeung, V. T., Cockram, C., Chan, J. C., Barnett, A. H. and Bain, S. C. (1997). "The mitochondrial tRNA[Leu(UUR)] A to G 3243 mutation is associated with insulin-dependent and non-insulin-dependent diabetes in a Chinese population." Diabetic Medicine 14(12):1026-1031.

Snyder, R. O., Spratt, S. K., Lagarde, C., Bohl, D., Kaspar, B., Sloan, B., Cohen, L. K. and Danos, O. (1997). "Efficient and stable adeno-associated virus-mediated transduction in the skeletal muscle of adult immunocompetent mice." Human Gene Therapy 8(16):1891-1900.

Snyder, S. H., Verma, A. and Trifiletti, R. R. (1987). "The peripheral-type benzodiazepine receptor: a protein of mitochondrial outer membranes utilizing porphyrins as endogenous ligands." FASEB Journal 1(4):282-288.

Snyderwine, E. G. and Bohr, V. A. (1992). "Gene- and strand-specific damage and repair in Chinese hamster ovary cells treated with 4-nitroquinoline 1-oxide." Cancer Research 52(15):4183-4189.

Sobreira, C., Davidson, M., King, M. P. and Miranda, A. F. (1996). "Dihydrorhodamine 123 identifies impaired mitochondrial respiratory chain function in cultured cells harboring mitochondrial DNA mutations." The Journal of Histochemsitry and Cytochemistry 44(6):571-579.

Sobreira, C., Hirano, M., Shanske, S., Keller, R. K., Haller, R. G., Davidson, E., Santorelli, F. M., Miranda, A. F., Bonilla, E., Mojon, D. S., Barreira, A. A., King, M. P. and DiMauro, S. (1997). "Mitochondrial encephalomyopathy with coenzyme Q10 deficiency." Neurology 48(5):1238-1243.

Soffia, F. and Penna, M. (1987). "Ethanol metabolism by rat heart homogenates." Alcohol 4(1):45-48.

Sohal, R. S. (1991). "Hydrogen peroxide production by mitochondria may be a biomarker of aging." Meccanismi of Ageing and Development 60(2):189-198.

Sohal, R. S. (1993). "Aging, cytochrome oxidase activity, and hydrogen peroxide release by mitochondria." Free Radical Biology and Medicine 14(6):583-588.

Sohal, R. S. and Brunk, U. T. (1989). "Lipofuscin as an indicator of oxidative stress and aging." Advances in Experimental Medicine and Biology 266:17-26.

Sohal, R. S. and Dubey, A. (1994). "Mitochondrial oxidative damage, hydrogen peroxide release, and aging." Free Radical Biology and Medicine 16(5):621-626.

Sohal, R. S., Ku, H. H., Agarwal, S., Forster, M. J. and Lal, H. (1994). "Oxidative damage, mitochondrial oxidant generation and antioxidant defenses during aging and in response to food restriction in the mouse." Meccanismi of Ageing & Development 74(1-2):121-133.

Sohal, R. S. and Sohal, B. H. (1991). "Hydrogen peroxide release by mitochondria increases during aging." Meccanismi of Ageing and Development 57(2):187-202.

Sohal, R. S. and Weindruch, R. (1996). "Oxidative stress, caloric restriction, and aging." Science 273(5271):59-63.

Solanes, G., Vidal-Puig, A., Grujic, D., Flier, J. S. and Lowell, B. B. (1997). "The human uncoupling protein-3 gene. Genomic structure, chromosomal localization, and genetic basis for short and long form transcripts." Journal of Biological Chemistry 272(41):25433-25436.

Solzbach, U., Hornig, B., Jeserich, M. and Just, H. (1997). "Vitamin C improves endothelial dysfunction of epicardial coronary arteries in hypertensive patients." Circulation 96(5):1513-1519.

Somasundaran, M., Zapp, M. L., Beattie, L. K., Pang, L., Byron, K. S., Bassell, G. J., Sullivan, J. L. and Singer, R. H. (1994). "Localization of HIV RNA in mitochondria of infected cells: potential role in cytopathogenicity." Journal of Cell Biology 126(6):1353-1360.

Soodyall, H. and Jenkins, T. (1992). "Mitochondrial DNA polymorphisms in Khoisan populations from Southern Africa." Annals of Human Genetics 56:315-324.

Soodyall, H. and Jenkins, T. (1992). "Mitochondrial DNA studies in the South African Indian population." Gene Geography 6(3):127-137.

Soodyall, H. and Jenkins, T. (1993). "Mitochondrial DNA polymorphisms in Negroid populations from Namibia: new light on the origins of the Dama, Herero and Ambo." Annals of Human Biology 20:477-485.

Soodyall, H., Jenkins, T., Mukherjee, A., du Toit, E., Roberts, D. F. and Stoneking, M. (1997). "The founding mitochondrial DNA lineages of Tristan da Cunha Islanders." American Journal of Physical Anthropology 104(2):157-166.

Soodyall, H., Vigilant, L., Hill, A. V., Stoneking, M. and Jenkins, T. (1996). "mtDNA control-region sequence variation suggests multiple independent origins of an "Asian-specific" 9-bp deletion in sub-Saharan Africans." American Journal of Human Genetics 58(3):595-608.

Soong, N. W., Hinton, D. R., Cortopassi, G. and Arnheim, N. (1992). "Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain." Nature Genetics 2:318-323.

Sorbi, S., Bird, E. D. and Blass, J. P. (1983). "Decreased pyruvate dehydrogenase complex activity in Huntington and Alzheimer brain." Annals of Neurology 13(1):72-78.

Soriano, P. (1999). "Generalized lacZ expression with the ROSA26 Cre reporter strain [letter]." Nature Genetics 21(1):70-71.

Souied, E., Pisella, P. J., Ossareh, B., Brezin, A., Junes, P., Wild-Decrette, C., Munnich, A., Bonnefont, J. P. and Mondon, H. (1997). "[Positive diagnosis of Leber's hereditary optic neuropathy using molecular genetics]." Journal Francais d Ophtalmologie 20(1):65-70.

Souied, E. H., Sales, M. J., Soubrane, G., Coscas, G., Bigorie, B., Kaplan, J., Munnich, A. and Rotig, A. (1998). "Macular dystrophy, diabetes, and deafness associated with a large mitochondrial DNA deletion." American Journal of Ophthalmology 125(1):100-103.

Sparaco, M., Schon, E. A., DiMauro, S. and Bonilla, E. (1995). "Myoclonic epilepsy with ragged-red fibers (MERRF): an immunohistochemical study of the brain." Brain Pathology 5(2):125-133.

Spelbrink, J. N., Van Oost, B. A. and Van den Bogert, C. (1994). "The relationship between mitochondrial genotype and mitochondrial phenotype in lymphoblasts with a heteroplasmic mtDNA deletion." Human Molecular Genetics 3(11):1989-1997.

Spelbrink, J. N., Zwart, R., Van Galen, M. J. and Van den Bogert, C. (1997). "Preferential amplification and phenotypic selection in a population of deleted and wild-type mitochondrial DNA in cultured cells." Current Genetics 32(2):115-124.

Spencer, S. R., Taylor, J. B., Cowell, I. G., Xia, C. L., Pemble, S. E. and Ketterer, B. (1992). "The human mitochondrial NADH:ubiquinone oxidoreductase 51-kDa subunit maps adjacent to the glutathione S-transferase P1-1 gene on chromosome 11q13." Genomics 14(4):1116-1118.

Sprengel, R., Werner, P., Seeburg, P. H., Mukhin, A. G., Santi, M. R., Grayson, D. R., Guidotti, A. and Krueger, K. E. (1989). "Molecular cloning and expression of cDNA encoding a peripheral-type benzodiazepine receptor." Journal of Biological Chemistry 264(34):20415-20421.

Spurdle, A. and Jenkins, T. (1992). "Y chromosome probe p49a detects complex PvuII haplotypes and many new TaqI haplotypes in southern African populations." American Journal of Human Genetics 50(1):107-125.

top of page

St Clair, D. K., Oberley, T. D. and Ho, Y. S. (1991). "Overproduction of human Mn-superoxide dismutase modulates paraquat-mediated toxicity in mammalian cells." FEBS Letters 293(1-2):199-203.

St John, J. C. and Barratt, C. L. (1997). "Use of anucleate donor oocyte cytoplasm in recipient eggs." Lancet 350(9082):961-962.

St John, J. C., Cooke, I. D. and Barratt, C. L. (1997). "Mitochondrial mutations and male infertility [letter; comment]." Nature Medicine 3(2):124-125.

Staal, F. J., Anderson, M. T., Staal, G. E., Herzenberg, L. A. and Gitler, C. (1994). "Redox regulation of signal transduction: tyrosine phosphorylation and calcium influx." Proceedings of the National Academy of Sciences of the United States of America 91(9):3619-3622.

Staal, F. J., Ela, S. W., Roederer, M., Anderson, M. T. and Herzenberg, L. A. (1992). "Glutathione deficiency and human immunodeficiency virus infection [see comments]." Lancet 339(8798):909-912.

Staal, F. J., Roederer, M. and Herzenberg, L. A. (1990). "Intracellular thiols regulate activation of nuclear factor kappa B and transcription of human immunodeficiency virus." Proceedings of the National Academy of Sciences of the United States of America 87(24):9943-9947.

Staal, F. J., Roederer, M., Israelski, D. M., Bubp, J., Mole, L. A., McShane, D., Deresinski, S. C., Ross, W., Sussman, H., Raju, P. A. and et al. (1992). "Intracellular glutathione levels in T cell subsets decrease in HIV- infected individuals." AIDS Research and Human Retroviruses 8(2):305-311.

Stachowiak, O., Dolder, M., Wallimann, T. and Richter, C. (1998). "Mitochondrial creatine kinase is a prime target of peroxynitrite- induced modification and inactivation." Journal of Biological Chemistry 273(27):16694-16699.

Stacpoole, P. W., Bunch, S. T., Neiberger, R. E., Perkins, L. A., Quisling, R., Hutson, A. D. and Greer, M. (1999). "The importance of cerebrospinal fluid lactate in the evaluation of congenital lactic acidosis." Journal of Pediatrics 134(1):99-102.

Stadhouders, A. M., Jap, P. H. K., Winkler, H.-P., Eppenberger, H. M. and Wallimann, T. (1994). "Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies." Proceedings of the National Academy of Sciences of the United States of America 91(11):5089-5093.

Starikovskaya, E. B., Sukernik, R. I., Schurr, T. G., Kogelnik, A. M. and Wallace, D. C. (1998). "Mitochondrial DNA diversity in Chukchi and Siberian Eskimos: implications for genetic history of ancient Beringia and peopling of the New World." American Journal of Human Genetics 63(5):1473-1491.

Stenico, M., Nigro, L., Bertorelle, G., Calafell, F., Capitanio, M., Corrain, C. and Barbujani, G. (1996). "High mitochondrial sequence diversity in linguistic isolates of the Alps." American Journal of Human Genetics 59(6):1363-1375.

Stepien, G., Torroni, A., Chung, A. B., Hodge, J. A. and Wallace, D. C. (1992). "Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation." Journal of Biological Chemistry 267(21):14592-14597.

Sternberg, D., Chatzoglou, E., Laforet, P., Fayet, G., Jardel, C., Blondy, P., Fardeau, M., Amselem, S., Eymard, B. and Lombes, A. (2001). "Mitochondrial DNA transfer RNA gene sequence variations in patients with mitochondrial disorders." Brain 124(Pt 5):984-994.

Sternberg, D., Danan, C., Lombes, A., Laforet, P., Girodon, E., Goossens, M. and Amselem, S. (1998). "Exhaustive scanning approach to screen all the mitochondrial tRNA genes for mutations and its application to the investigation of 35 independent patients with mitochondrial disorders." Human Molecular Genetics 7(1):33-42.

Stine, O. C., Dover, G. J., Zhu, D. and Smith, K. D. (1992). "The evolution of two west African populations." Journal of Molecular Evolution 34:336-344.

Stine, O. C., Luu, S. U., Zito, M. and Casanova, M. (1993). "The possible association between affective disorder and partially deleted mitochondrial DNA." Biological Psychiatry 33(2):141-142.

Stoffel, M., Bell, K. L., Blackburn, C. L., Powell, K. L., Seo, T. S., Takeda, J., Vionnet, N., Xiang, K. S., Gidh-Jain, M., Pilkis, S. J. and et al (1993). "Identification of glucokinase mutations in subjects with gestational diabetes mellitus." Diabetes 42(6):937-940.

Stoffel, M., Froguel, P., Takeda, J., Zouali, H., Vionnet, N., Nishi, S., Weber, I. T., Harrison, R. W., Pilkis, S. J., Lesage, S., Vaxillaire, M., Velho, G., Sun, F., Iris, F., Pass, P., Cohen, D. and Bell, G. I. (1992). "Human glucokinase gene: isolation, characterization, and identification of two missense mutations linked to early-onset non-insulin-dependent (type 2) diabetes mellitus [published erratum appears in Proc Natl Acad Sci U S A,1992,89(21):10562]." Proceedings of the National Academy of Sciences of the United States of America 89(16):7698-7702.

Stoffel, M., Karayiorgou, M., Espinosa, R., 3rd and Beau, M. M. (1996). "The human mitochondrial citrate transporter gene (SLC20A3) maps to chromosome band 22q11 within a region implicated in DiGeorge syndrome, velo-cardio-facial syndrome and schizophrenia." Human Genetics 98(1):113-115.

Stoffel, M., Patel, P., Lo, Y. M., Hattersley, A. T., Lucassen, A. M., Page, R., Bell, J. I., Bell, G. I., Turner, R. C. and Wainscoat, J. S. (1992). "Missense glucokinase mutation in maturity-onset diabetes of the young and mutation screening in late-onset diabetes." Nature Genetics 2(2):153-156.

Stone, A. C. and Stoneking, M. (1993). "Ancient DNA from a Pre-Columbian Amerindian population." American Journal of Physical Anthropology 92(4):463-471.

Stone, A. C. and Stoneking, M. (1998). "mtDNA analysis of a prehistoric Oneota population: implications for the peopling of the New World." American Journal of Human Genetics 62(5):1153-1170.

Stone, D. L. and Biesecker, L. G. (1997). "Mitochondrial NP 3243 point mutation is not a common cause of VACTERL association [letter; comment]." American Journal of Medical Genetics 72(2):237-238.

Stone, E. M., Coppinger, J. M., Kardon, R. H. and Donelson, J. (1990). "Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy." Archives of Ophthalmology 108(10):1417-1420.

Stone, E. M., Newman, N. J., Miller, N. R., Johns, D. R., Lott, M. T. and Wallace, D. C. (1992). "Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation." Journal of Clinical Neuro-ophthalmology 12(1):10-14.

Stoneking, M. (1994). "Mitochondrial DNA and human evolution." Journal of Bioenergetics and Biomembranes 26(3):251-259.

Stoneking, M., Bhatia, K. and Wilson, A. C. (1986). "Rate of sequence divergence estimated from restriction maps of mitochondrial DNAs from Papua New Guinea." Cold Spring Harbor Symposia on Quantitative Biology 51:433-439.

Stoneking, M., Hedgecock, D., Higuchi, R. G., Vigilant, L. and Erlich, H. A. (1991). "Population variation of human mtDNA control region sequences detected by enzymatic amplification and sequence-specific oligonucleotide probes." American Journal of Human Genetics 48(2):370-382.

Stoneking, M., Jorde, L. B., Bhatia, K. and Wilson, A. C. (1990). "Geographic variation in human mitochondrial DNA from Papua New Guinea." Genetics 124:717-733.

Storb, R., Anasetti, C., Appelbaum, F., Bensinger, W., Buckner, C. D., Clift, R., Deeg, H. J., Doney, K., Hansen, J., Loughran, T. and et al. (1991). "Marrow transplantation for severe aplastic anemia and thalassemia major." Seminars in Hematology 28(3):235-239.

Stratilova, L., Zeman, J., Hansikova, H., Houstek, J., Hermanska, J., Dudkova, Z., Konradova, V., Hulkova, H. and Elleder, M. (1998). "[Mitochondrial myopathy, deafness and type 2 diabetes mellitus with tRNALeu(UUR) point mutation in mitochondrial DNA]." Casopis Lekaru Ceskych 137(14):430-433.

Strittmatter, W. J. and Roses, A. D. (1995). "Apolipoprotein E and Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 92(11):4725-4727.

Strittmatter, W. J., Saunders, A. M., Goedert, M., Weisgraber, K. H., Dong, L. M., Jakes, R., Huang, D. Y., Pericak-Vance, M., Schmechel, D. and Roses, A. D. (1994). "Isoform-specific interactions of apolipoprotein E with microtubule-associated protein tau: implications for Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 91(23):11183-11186.

Strittmatter, W. J., Saunders, A. M., Schmechel, D., Pericak-Vance, M., Enghild, J., Salvesen, G. S. and Roses, A. D. (1993). "Apolipoprotein E: high-avidity binding to beta-amyloid and increased frequency of type 4 allele in late-onset familial Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 90(5):1977-1981.

Strittmatter, W. J., Weisgraber, K. H., Huang, D. Y., Dong, L. M., Salvesen, G. S., Pericak-Vance, M., Schmechel, D., Saunders, A. M., Goldgaber, D. and Roses, A. D. (1993). "Binding of human apolipoprotein E to synthetic amyloid beta peptide: isoform-specific effects and implications for late-onset Alzheimer disease." Proceedings of the National Academy of Sciences of the United States of America 90(17):8098-8102.

Stuehr, D. J., Kwon, N. S., Nathan, C. F., Griffith, O. W., Feldman, P. L. and Wiseman, J. (1991). "N omega-hydroxy-L-arginine is an intermediate in the biosynthesis of nitric oxide from L-arginine." Journal of Biological Chemistry 266(10):6259-6263.

Su, B., Xiao, C., Deka, R., Seielstad, M. T., Kangwanpong, D., Xiao, J., Lu, D., Underhill, P., Cavalli-Sforza, L., Chakraborty, R. and Jin, L. (2000). "Y chromosome haplotypes reveal prehistorical migrations to the Himalayas." Human Genetics 107(6):582-590.

Sudoyo, H., Marzuki, S., Byrne, E. and Mastaglia, F. (1993). "Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: defect in mitochondrial protein synthesis." Journal of the Neurological Sciences 117:83-91.

Sudoyo, H., Marzuki, S., Mastaglia, F. and Carroll, W. (1992). "Molecular genetics of Leber's hereditary optic neuropathy: study of a six-generation family from Western Australia." Journal of the Neurological Sciences 108(1):7-17.

Sudoyo, H., Suryadi, H., Lertrit, P., Pramoonjago, P., Lyrawati, D. and Marzuki, S. (2002). "Asian-specific mtDNA backgrounds associated with the primary G11778A mutation of Leber's hereditary optic neuropathy." Journal of Human Genetics 47(11):594-604.

Sue, C. M., Bruno, C., Andreu, A. L., Cargan, A., Mendell, J. R., Tsao, C. Y., Luquette, M., Paolicchi, J., Shanske, S., DiMauro, S. and De Vivo, D. C. (1999). "Infantile encephalopathy associated with the MELAS A3243G mutation." Journal of Pediatrics 134(6):696-700.

Sue, C. M., Hirano, M., DiMauro, S. and De Vivo, D. C. (1999). "Neonatal presentations of mitochondrial metabolic disorders." Seminars in Perinatology 23(2):113-124.

Sue, C. M., Holmes-Walker, D. J., Morris, J. G., Boyages, S. C., Crimmins, D. S. and Byrne, E. (1993). "Mitochondrial gene mutations and diabetes mellitus [letter]." Lancet 341:437-438.

Sue, C. M., Mitchell, P., Crimmins, D. S., Moshegov, C., Byrne, E. and Morris, J. G. (1997). "Pigmentary retinopathy associated with the mitochondrial DNA 3243 point mutation." Neurology 49(4):1013-1017.

Sue, C. M., Tanji, K., Hadjigeorgiou, G., Andreu, A. L., Nishino, I., Krishna, S., Bruno, C., Hirano, M., Shanske, S., Bonilla, E., Fischel-Ghodsian, N., DiMauro, S. and Friedman, R. (1999). "Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene." Neurology 52(9):1905-1908.

Suganuma, N., Kitagawa, T., Nawa, A. and Tomoda, Y. (1993). "Human ovarian aging and mitochondrial DNA deletion." Hormone Research 39 (Suppl 1):16-21.

Sugden, B., Marsh, K. and Yates, J. (1985). "A vector that replicates as a plasmid and can be efficiently selected in B-lymphoblasts transformed by Epstein-Barr virus." Molecular & Cellular Biology 5(2):410-413.

Sugiyama, S., Hattori, K., Hayakawa, M. and Ozawa, T. (1992). "Quantitative analysis of age-associated accumulation of mitochondrial DNA with deletion in human hearts." Biochemical and Biophysical Research Communications 180:894-899.

Suh, Y. A., Arnold, R. S., Lassegue, B., Shi, J., Xu, X., Sorescu, D., Chung, A. B., Griendling, K. K. and Lambeth, J. D. (1999). "Cell transformation by the superoxide-generating oxidase Mox1." Nature 401(6748):79-82.

Sukenaga, Y., Ishida, K., Takeda, T. and Takagi, K. (1987). "cDNA sequence coding for human glutathione peroxidase." Nucleic Acids Research 15(17):7178.

Sun, F., Ashley-Koch, A. E., Durham, L. K., Feingold, E., Halloran, M. E., Manatunga, A. K. and Sherman, S. L. (1998). "Esami for contributions of mitochondrial DNA mutations to complex diseases." Genetic Epidemiology 15(5):451-469.

Sun, J. and Tower, J. (1999). "FLP recombinase-mediated induction of Cu/Zn-superoxide dismutase transgene expression can extend the life span of adult Drosophila melanogaster flies." Molecular and Cellular Biology 19(1):216-228.

top of page

Sun, N. C., Chang, C. C. and Chu, E. H. (1975). "Mutant hamster cells exhibiting a pleiotropic effect on carbohydrate metabolism." Proceedings of the National Academy of Sciences of the United States of America 72(2):469-473.

Suomalainen, A. (1997). "Mitochondrial DNA and disease." Annals of Medicine 29(3):235-246.

Suomalainen, A., Ciafaloni, E., Koga, Y., Peltonen, L., DiMauro, S. and Shon, E. (1992). "Use of single strand conformational polymorphisms analysis to detect point mutations in human mitochondrial DNA." Journal of the Neurological Sciences 111(2):222-226.

Suomalainen, A., Kaukonen, J., Amati, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H. and Peltonen, L. (1995). "An autosomal locus predisposing to deletions of mitochondrial DNA." Nature Genetics 9(2):146-151.

Suomalainen, A., Majander, A., Haltia, M., Somer, H., Lonnqvist, J., Savontaus, M. L. and Peltonen, L. (1992). "Multiple deletions of mitochondrial DNA in several tissues of a patient with severe retarded depression and familial progressive external ophthalmoplegia." Journal of Clinical Investigation 90:61-66.

Suomalainen, A., Majander, A., Pihko, H., Peltonen, L. and Syvanen, A. C. (1993). "Quantification of tRNA3243(Leu) point mutation of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription." Human Molecular Genetics 2:525-534.

Suomalainen, A., Majander, A., Wallin, M., Setala, K., Kontula, K., Leinonen, H., Salmi, T., Paetau, A., Haltia, M., Valanne, L., Lonnqvist, J., Peltonen, L. and Somer, H. (1997). "Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease." Neurology 48(5):1244-1253.

Superti-Furga, A., Schoenle, E., Tuchschmid, P., Caduff, R., Sabato, V., DeMattia, D., Gitzelmann, R. and Steinmann, B. (1993). "Pearson bone marrow-pancreas syndrome with insulin-dependent diabetes, progressive renal tubulopathy, organic aciduria and elevated fetal haemoglobin caused by deletion and duplication of mitochondrial DNA." European Journal of Pediatrics 152:44-50.

Susin, S. A., Lorenzo, H. K., Zamzami, N., Marzo, I., Brenner, C., Larochette, N., Prevost, M. C., Alzari, P. M. and Kroemer, G. (1999). "Mitochondrial release of caspase-2 and -9 during the apoptotic process." Journal of Experimental Medicine 189(2):381-394.

Susin, S. A., Lorenzo, H. K., Zamzami, N., Marzo, I., Snow, B. E., Brothers, G. M., Mangion, J., Jacotot, E., Costantini, P., Loeffler, M., Larochette, N., Goodlett, D. R., Aebersold, R., Siderovski, D. P., Penninger, J. M. and Kroemer, G. (1999). "Molecular characterization of mitochondrial apoptosis-inducing factor." Nature 397(6718):441-446.

Suzuki, H., Hosokawa, Y., Nishikimi, M. and Ozawa, T. (1989). "Structural organization of the human mitochondrial cytochrome c1 gene." Journal of Biological Chemistry 264(3):1368-1374.

Suzuki, H., Hosokawa, Y., Nishikimi, M. and Ozawa, T. (1991). "Existence of common homologous elements in the transcriptional regulatory regions of human nuclear genes and mitochondrial gene for the oxidative phosphorylation system." Journal of Biological Chemistry 266:2333-2338.

Suzuki, H., Hosokawa, Y., Toda, H., Nishikimi, M. and Ozawa, T. (1988). "Cloning and sequencing of a cDNA for human mitochondrial ubiquinone-binding protein of complex III." Biochemical and Biophysical Research Communications 156(2):987-994.

Suzuki, H., Hosokawa, Y., Toda, H., Nishikimi, M. and Ozawa, T. (1989). "Isolation of a single nuclear gene encoding human ubiquinone-binding protein in complex III of mitochondrial respiratory chain." Biochemical and Biophysical Research Communications 161(1):371-378.

Suzuki, H. and Ozawa, T. (1986). "An ubiquinone-binding protein in mitochondrial NADH-ubiquinone reductase (Complex I)." Biochemical and Biophysical Research Communications 138:1237-12422.

Suzuki, H., Suzuki, S., Kumar, S. and Ozawa, T. (1995). "Human nuclear and mitochondrial Mt element-binding proteins to regulatory regions of the nuclear respiratory genes and to the mitochondrial promoter region." Biochemical and Biophysical Research Communications 213(1):204-210.

Suzuki, K., Mizuno, Y. and Yoshida, M. (1990). "Inhibition of mitochondrial respiration by 1,2,3,4-tetrahydroisoquinoline-like endogenous alkaloids in mouse brain." Neurochemical Research 15(7):705-710.

Suzuki, N., Cheung, T. T., Cai, X. D., Odaka, A., Otvos, L., Jr.,, Eckman, C., Golde, T. E. and Younkin, S. G. (1994). "An increased percentage of long amyloid beta protein secreted by familial amyloid beta protein precursor (beta APP717) mutants." Science 264(5163):1336-1340.

Suzuki, S., Hinokio, Y., Hirai, S., Onoda, M., Matsumoto, M., Ohtomo, M., Kawasaki, H., Satoh, Y., Akai, H., Abe, K., Miyabayashi, S., Kawasaki, E., Nagataki, S. and Toyota, T. (1994). "Pancreatic beta-cell secretory defect associated with mitochondrial point mutation of the tRNALeu(UUR) gene: a study in seven families with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS)." Diabetologia 37(8):818-825.

Suzuki, S., Hinokio, Y., Hirai, S., Onoda, M., Matsumoto, M., Ohtomo, M., Kawasaki, H., Satoh, Y., Akai, H., Abe, K. and Toyota, T. (1994). "Diabetes with mitochondrial gene tRNALys mutation." Diabetes Care 17(12):1428-1432.

Suzuki, S., Hinokio, Y., Ohtomo, M., Hirai, M., Hirai, A., Chiba, M., Kasuga, S., Satoh, Y., Akai, H. and Toyota, T. (1998). "The effects of coenzyme Q10 treatment on maternally inherited diabetes mellitus and deafness, and mitochondrial DNA 3243 (A to G) mutation." Diabetologia 41(5):584-588.

Suzuki, Y., Goto, Y., Taniyama, M., Nonaka, I., Murakami, N., Hosokawa, K., Asahina, T., Atsumi, Y. and Matsuoka, K. (1997). "Muscle histopathology in diabetes mellitus associated with mitochondrial tRNA(Leu(UUR)) mutation at position 3243." Journal of the Neurological Sciences 145(1):49-53.

Suzuki, Y., Kadowaki, H., Atsumi, Y., Hosokawa, K., Katagiri, H., Kadowaki, T., Oka, Y., Uyama, K., Mokubo, A., Asahina, T., Murata, C. and Matsuoka, K. (1995). "A case of diabetic amyotrophy associated with 3243 mitochondrial tRNALeu(UUR) mutation and successful therapy with coenzyme Q10." Endocrine Journal 42(2):141-145.

Suzuki, Y., Kadowaki, H., Katagiri, H., Suematsu, M., Atsumi, Y., Hosokawa, K., Kadowaki, T., Oka, Y., Yazaki, Y. and Matsuoka, K. (1994). "Posttreatment neuropathy in diabetic subjects with mitochondrial tRNALeu mutation." Diabetes Care 17(7):777-778.

Suzuki, Y., Suzuki, S., Hinokio, Y., Chiba, M., Atsumi, Y., Hosokawa, K., Shimada, A., Asahina, T. and Matsuoka, K. (1997). "Diabetes associated with a novel 3264 mitochondrial tRNA(Leu)(UUR) mutation." Diabetes Care 20(7):1138-1140.

Suzuki, Y., Taniyama, M., Hata, T., Miyaoka, H., Atsumi, Y. and Matsuoka, K. (1997). "Sleep-wake dysrhythm in mitochondrial diabetes mellitus." Diabetes Research and Clinical Practice 35(1):61-62.

Suzuki, Y., Taniyama, M., Muramatsu, T., Atsumi, Y., Hosokawa, K., Asahina, T., Shimada, A., Murata, C. and Matsuoka, K. (1997). "Diabetes mellitus associated with 3243 mitochondrial tRNA(Leu(UUR)) mutation: clinical features and coenzyme Q10 treatment." Molecular Aspects of Medicine 18(Suppl):S181-S188.

Suzuki, Y., Wada, T., Sakai, T., Ishikawa, Y., Minami, R., Tachi, N. and Saitoh, S. (1998). "Phenotypic variability in a family with a mitochondrial DNA T8993C mutation." Pediatric Neurology 19(4):283-286.

Swartz, N. and Savino, P. J. (1994). "Is all nondefinable optic atrofia Leber's hereditary optic neuropathy?" Survey of Ophthalmology 39(2):146-150.

Sweeney, M. G., Brockington, M., Weston, M. J., Morgan-Hughes, J. A. and Harding, A. E. (1993). "Mitochondrial DNA transfer RNA mutation Leu(UUR) A-G 3260: a second family with myopathy and cardiomyopathy." Quarterly Journal of Medicine 86:435-438.

Sweeney, M. G., Bundey, S., Brockington, M., Poulton, K. R., Winer, J. B. and Harding, A. E. (1993). "Mitochondrial myopathy associated with sudden death in young adults and a novel mutation in the mitochondrial DNA leucine transfer RNA(UUR) gene." Quarterly Journal of Medicine 86:709-713.

Sweeney, M. G., Hammans, S. R., Duchen, L. W., Cooper, J. M., Schapira, A. H., Kennedy, C. R., Jacobs, J. M., Youl, B. D., Morgan-Hughes, J. A. and Harding, A. E. (1994). "Mitochondrial DNA mutation underlying Leigh's syndrome: clinical, pathological, biochemical, and genetic studies of a patient presenting with progressive myoclonic epilepsy." Journal of the Neurological Sciences 121(1):57-65.

Swerdlow, R. H., Parks, J. K., Cassarino, D. S., Maguire, D. J., Maguire, R. S., Bennett, J. P., Jr., Davis, R. E. and Parker, W. D., Jr. (1997). "Cybrids in Alzheimer's disease: a cellular model of the disease? [see comments]." Neurology 49(4):918-925.

Swerdlow, R. H., Parks, J. K., Cassarino, D. S., Shilling, A. T., Bennett, J. P., Jr., Harrison, M. B. and Parker, W. D., Jr. (1999). "Characterization of cybrid cell lines containing mtDNA from Huntington's disease patients." Biochemical & Biophysical Research Communications 261(3):701-704.

Swerdlow, R. H., Parks, J. K., Cassarino, D. S., Trimmer, P. A., Miller, S. W., Maguire, D. J., Sheehan, J. P., Maguire, R. S., Pattee, G., Juel, V. C., Phillips, L. H., Tuttle, J. B., Bennett, J. P., Jr., Davis, R. E. and Parker, W. D., Jr. (1998). "Mitochondria in sporadic amyotrophic lateral sclerosis." Experimental Neurology 153(1):135-142.

Swerdlow, R. H., Parks, J. K., Davis, J. N., 2nd, Cassarino, D. S., Trimmer, P. A., Currie, L. J., Dougherty, J., Bridges, W. S., Bennett, J. P., Jr., Wooten, G. F. and Parker, W. D. (1998). "Matrilineal inheritance of complex I dysfunction in a multigenerational Parkinson's disease family." Annals of Neurology 44(6):873-881.

Swofford, D. L. (1993). Phylogenetic analysis using parsimony (PAUP). Champaign, University of Illinois.

Szabolcs, M. J., Seigle, R., Shanske, S., Bonilla, E., DiMauro, S. and D'Agati, V. (1994). "Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy." Kidney International 45(5):1388-1396.

Szathmary, E. J. (1984). "Peopling of northern North America: clues from genetic studies." Acta Anthropogenet 8(1-2):79-109.

Szczesny, B., Hazra, T. K., Papaconstantinou, J., Mitra, S. and Boldogh, I. (2003). "Age-dependent deficiency in import of mitochondrial DNA glycosylases required for repair of oxidatively damaged bases." Proceedings of the National Academy of Sciences of the United States of America (Published online before print September 5, 2003):1932854100.

Szibor, R., Michael, M., Spitsyn, V. A., Plate, I., Ginter, E. K. and Krause, D. (1997). "Mitochondrial D-loop 3' (CA)n repeat polymorphism: optimization of analysis and population data." Electrophoresis 18(15):2857-2860.

T

top of page

Taanman, J. W. (1999). "The mitochondrial genome: structure, transcription, translation and replication." Biochimica et Biophysica Acta 1410(2):103-123.

Taanman, J. W., Schrage, C., Bokma, E., Reuvekamp, P., Agsteribbe, E. and De Vries, H. (1991). "Nucleotide sequence of the last exon of the gene for human cytochrome c oxidase subunit VIb and its flanking regions." Biochimica et Biophysica Acta 1089(2):283-285.

Taanman, J. W., Schrage, C., Ponne, N., Bolhuis, P., de Vries, H. and Agsteribbe, E. (1989). "Nucleotide sequence of cDNA encoding subunit VIb of human cytochrome c oxidase." Nucleic Acids Research 17(4):1766.

Taanman, J. W., Schrage, C., Ponne, N. J., Das, A. T., Bolhuis, P. A., de Vries, H. and Agsteribbe, E. (1990). "Isolation of cDNAs encoding subunit VIb of cytochrome c oxidase and steady-state levels of coxVIb mRNA in different tissues." Gene 93(2):285-291.

Taanman, J. W., Turina, P. and Capaldi, R. A. (1994). "Regulation of cytochrome c oxidase by interaction of ATP at two binding sites, one on subunit VIa." Biochemistry 33(39):11833-11841.

Taanman, J. W., van der Veen, A. Y., Schrage, C., de Vries, H. and Buys, C. H. (1991). "Assignment of the gene coding for human cytochrome c oxidase subunit VIb to chromosome 19, band q13.1, by fluorescence in situ hybridisation." Human Genetics 87(3):325-327.

Tabrizi, S. J., Cooper, J. M. and Schapira, A. H. (1998). "Mitochondrial DNA in focal dystonia: a cybrid analysis." Annals of Neurology 44(2):258-261.

Taffe, B. G., Larminat, F., Laval, J., Croteau, D. L., Anson, R. M. and Bohr, V. A. (1996). "Gene-specific nuclear and mitochondrial repair of formamidopyrimidine DNA glycosylase-sensitive sites in Chinese hamster ovary cells." Mutation Research 364(3):183-192.

Tagliavini, J., Battisti, C. and Conterio, F. (1993). "Polymorphic DdeI restriction sites in mitochondrial D-loop DNA from Emilian blood donors." Gene Geography 7(3):221-229.

Taivassalo, T., De Stefano, N., Argov, Z., Matthews, P. M., Chen, J., Genge, A., Karpati, G. and Arnold, D. L. (1998). "Effects of aerobic training in patients with mitochondrial myopathies." Neurology 50(4):1055-1060.

Taivassalo, T., Fu, K., Johns, T., Arnold, D., Karpati, G. and Shoubridge, E. A. (1999). "Gene shifting: a novel therapy for mitochondrial myopathy." Human Molecular Genetics 8(6):1047-1052.

Takahashi, K., Akasaka, M., Yamamoto, Y., Kobayashi, C., Mizoguchi, J. and Koyama, J. (1990). "Primary structure of human plasma glutathione peroxidase deduced from cDNA sequences." Journal of Biochemistry (Tokyo) 108(2):145-148.

Takahashi, K., Merchant, S. N., Miyazawa, T., Yamaguchi, T., McKenna, M. J., Kouda, H., Iino, Y., Someya, T., Tamagawa, Y., Takiyama, Y., Nakano, I., Saito, K., Boyer, P. and Kitamura, K. (2003). "Temporal bone histopathological and quantitative analysis of mitochondrial DNA in MELAS." Laryngoscope 113(8):1362-1368.

Takahashi, S., Makita, Y., Oki, J., Miyamoto, A., Yanagawa, J., Naito, E., Goto, Y. and Okuno, A. (1998). "De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome [letter]." American Journal of Human Genetics 62(3):717-719.

Takahashi, S., Oki, J., Miyamoto, A. and Okuno, A. (1999). "Proton magnetic resonance spectroscopy to study the metabolic changes in the brain of a patient with Leigh syndrome." Brain & Development 21(3):200-204.

Takai, D., Inoue, K., Goto, Y., Nonaka, I. and Hayashi, J. I. (1997). "The interorganellar interaction between distinct human mitochondria with deletion mutant mtDNA from a patient with mitochondrial disease and with HeLa mtDNA." Journal of Biological Chemistry 272(9):6028-6033.

Takanashi, J., Sugita, K., Tanabe, Y., Maemoto, T. and Niimi, H. (1997). "Dichloroacetate treatment in Leigh syndrome caused by mitochondrial DNA mutation." Journal of the Neurological Sciences 145(1):83-86.

Takeda, A., Chiba, S., Takaaki, I., Tanamura, A., Yamaguchi, Y. and Takeda, N. (1998). "Cell cycle of myocytes of cardiac and skeletal muscle in mitochondrial myopathy." Japanese Circulation Journal 62(9):695-699.

Takeda, N. (1997). "Cardiomyopathies and mitochondrial DNA mutations." Molecular & Cellular Biochemistry 176(1-2):287-290.

Takeda, N., Tanamura, A., Iwai, T., Nakamura, I., Kato, M., Ohkubo, T. and Noma, K. (1993). "Mitochondrial DNA deletion in human myocardium." Molecular and Cellular Biochemistry 119:105-108.

Taketani, S., Kohno, H., Okuda, M., Furukawa, T. and Tokunaga, R. (1994). "Induction of peripheral-type benzodiazepine receptors during differentiation of mouse erythroleukemia cells. A possible involvement of these receptors in heme biosynthesis." Journal of Biological Chemistry 269(10):7527-7531.

Taketo, M., Schroeder, A. C., Mobraaten, L. E., Gunning, K. B., Hanten, G., Fox, R. R., Roderick, T. H., Stewart, C. L., Lilly, F., Hansen, C. T. and Overbeek, P. A. (1991). "FVB/N: an inbred mouse strain preferable for transgenic analyses." Proceedings of the National Academy of Sciences of the United States of America 88(6):2065-2069.

Tamagawa, Y., Kitamura, K., Hagiwara, H., Ishida, T., Nishizawa, M., Saito, T. and Iwamoto, Y. (1997). "Audiologic findings in patients with a point mutation at nucleotide 3,243 of mitochondrial DNA." Annals of Otology, Rhinology & Laryngology 106(4):338-342.

Tamura, G., Nishizuka, S., Maesawa, C., Suzuki, Y., Iwaya, T., Sakata, K., Endoh, Y. and Motoyama, T. (1999). "Mutations in mitochondrial control region DNA in gastric tumours of Japanese patients." European Journal of Cancer 35(2):316-319.

Tanaka, A., Kiyosawa, M., Mashima, Y. and Tokoro, T. (1998). "A family with Leber's hereditary optic neuropathy with mitochondrial DNA heteroplasmy related to disease expression." Journal of Neuro-Ophthalmology 18(2):81-83.

Tanaka, M., Ino, H., Ohno, K., Hattori, K., Sato, W., Ozawa, T., Tanaka, T. and Itoyama, S. (1990). "Mitochondrial mutation in fatal infantile cardiomyopathy." Lancet 336:1452.

Tanaka, M., Ino, H., Ohno, K., Ohbayashi, T., Ikebe, S., Sano, T., Ichiki, T., Kobayashi, M., Wada, Y. and Ozawa, T. (1991). "Mitochondrial DNA mutations in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." Biochemical and Biophysical Research Communications 174(2):861-868.

Tanaka, M., Obayashi, T., Yoneda, M., Kovalenko, S. A., Sugiyama, S. and Ozawa, T. (1995). "Mitochondrial DNA mutations in cardiomyopathy: combination of replacements yielding cysteine residues and tRNA mutations." Muscle and Nerve 3(9):S165-169.

Tanaka, M. and Ozawa, T. (1994). "Strand asymmetry in human mitochondrial DNA mutations." Genomics 22(2):327-335.

Tanaka, M., Sato, W., Ohno, K., Yamamoto, T. and Ozawa, T. (1989). "Direct sequencing of deleted mitochondrial DNA in myopathic patients." Biochemical and Biophysical Research Communications 164:156-163.

Tanaka, M., Yoneda, M., Ohno, K., Sato, W., Yamamoto, M., Nonaka, I., Horai, S. and Ozawa, T. (1989). "Differently deleted mitochondrial genomes in maternally inherited chronic progressive external ophthalmoplegia." Journal of Inherited Metabolic Disease 12:359-362.

Tanaka, Y., Kanai, Y., Okada, Y., Nonaka, S., Takeda, S., Harada, A. and Hirokawa, N. (1998). "Targeted disruption of mouse conventional kinesin heavy chain, kif5B, results in abnormal perinuclear clustering of mitochondria." Cell 93(7):1147-1158.

Tanaka-Yamamoto, T., Tanaka, M., Ohno, K., Sato, W., Horai, S. and Ozawa, T. (1989). "Specific amplification of deleted mitochondrial DNA from a myopathic patient and analysis of deleted region with S1 nuclease." Biochimica et Biophysica Acta 1009:151-155.

Tang, J., Qi, Y., Bao, X. H. and Wu, X. R. (1997). "Mutational analysis of mitochondrial DNA of children with Rett syndrome." Pediatric Neurology 17(4):327-330.

Taniike, M., Fukushima, H., Yanagihara, I., Tsukamoto, H., Tanaka, J., Fujimura, H., Nagai, T., Sano, T., Yamaoka, K., Inui, K. and Okada, S. (1992). "Mitochondrial tRNAIle mutation in fatal cardiomyopathy." Biochemical and Biophysical Research Communications 186:47-53.

Tanimoto, Y., Onishi, Y., Sato, Y. and Kizaki, H. (1999). "Benzodiazepine receptor agonists modulate thymocyte apoptosis through reduction of the mitochondrial transmembrane potential." Japanese Journal of Pharmacology 79(2):177-183.

Taniyama, M., Kasuga, A., Suzuki, Y., Ozawa, Y., Handa, M., Kobayashi, A. and Ban, Y. (1997). "Absence of antibodies to ICA512/IA-2 in NIDDM patients with the mitochondrial DNA bp 3243 mutation [letter]." Diabetes Care 20(5):905-906.

Tanji, K., DiMauro, S. and Bonilla, E. (1999). "Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome." Journal of the Neurological Sciences 166(1):64-70.

Tanji, K., Vu, T. H., Schon, E. A., DiMauro, S. and Bonilla, E. (1999). "Kearns-Sayre syndrome: unusual pattern of expression of subunits of the respiratory chain in the cerebellar system." Annals of Neurology 45(3):377-383.

Tanno, Y., Okuizumi, K. and Tsuji, S. (1998). "mtDNA polymorphisms in Japanese sporadic Alzheimer's disease." Neurobiology of Aging 19(1 Suppl):S47-51.

Tanno, Y., Tanaka, K. and Tsuji, S. (1997). "[The correlation of the heteroplasmy of mtDNA and clinicopathological findings in the patients with mitochondrial encephalomyopathies]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3270-3276.

Tanno, Y., Yondea, M., Nonaka, I., Tanaka, K., Miyatake, T. and Tsuji, S. (1991). "Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients." Biochemical and Biophysical Research Communications 179(2):880-885.

Tapper, D. P. and Clayton, D. A. (1981). "Mechanism of replication of human mitochondrial DNA: localization of the 5' ends of nascent daughter strands." Journal of Biological Chemistry 256:5109-5115.

Tarnopolsky, M. A., Maguire, J., Myint, T., Applegarth, D. and Robinson, B. H. (1998). "Clinical, physiological, and histological features in a kindred with the T3271C melas mutation." Muscle & Nerve 21(1):25-33.

Tarutani, M., Itami, S., Okabe, M., Ikawa, M., Tezuka, T., Yoshikawa, K., Kinoshita, T. and Takeda, J. (1997). "Tissue-specific knockout of the mouse Pig-a gene reveals important roles for GPI-anchored proteins in skin development." Proceedings of the National Academy of Sciences of the United States of America 94(14):7400-7405.

Tateno, Y., Nei, M. and Tajima, F. (1982). "Accuracy of estimated phylogenetic trees from molecular data. I. Distantly related species." Journal of Molecular Evolution 18(6):387-404.

Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R. and Robinson, B. H. (1992). "Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high." American Journal of Human Genetics 50(4):852-858.

Tatuch, Y. and Robinson, B. H. (1993). "The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria." Biochemical and Biophysical Research Communications 192:124-128.

Tawata, M., Ikegishi, Y., Iwase, E., Aida, K. and Onaya, T. (1997). "Mitochondrial DNA mutations in Japanese detected by polymerase chain reaction--restriction fragment--single strand conformation polymorphism analysis." Genetic Analysis 14(1):17-19.

Tawata, M., Ohtaka, M., Iwase, E., Ikegishi, Y., Aida, K. and Onaya, T. (1998). "New mitochondrial DNA homoplasmic mutations associated with Japanese patients with type 2 diabetes." Diabetes 47(2):276-277.

Taylor, R. W., Chinnery, P. F., Bates, M. J., Jackson, M. J., Johnson, M. A., Andrews, R. M. and Turnbull, D. M. (1998). "A novel mitochondrial DNA point mutation in the tRNA(Ile) gene: studies in a patient presenting with chronic progressive external ophthalmoplegia and multiple sclerosis." Biochemical & Biophysical Research Communications 243(1):47-51.

Taylor, R. W., Chinnery, P. F., Clark, K. M., Lightowlers, R. N. and Turnbull, D. M. (1997). "Treatment of mitochondrial disease." Journal of Bioenergetics & Biomembranes 29(2):195-205.

Taylor, R. W., Chinnery, P. F., Turnbull, D. M. and Lightowlers, R. N. (1997). "Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids." Nature Genetics 15(2):212-215.

Taylor, R. W., Jobling, M. S., Turnbull, D. M. and Chinnery, P. F. (2003). "Frequency of rare mitochondrial DNA mutations in patients with suspected Leber's hereditary optic neuropathy." Journal of Medical Genetics 40(7):e85.

Taylor, R. W., McDonnell, M. T., Blakely, E. L., Chinnery, P. F., Taylor, G. A., Howell, N., Zeviani, M., Briem, E., Carrara, F. and Turnbull, D. M. (2003). "Genotypes from patients indicate no paternal mitochondrial DNA contribution." Annals of Neurology 54(4):521-524.

Taylor, R.W., Singh-Kler, R., Hayes, C.M., Smith, P.E. and Turnbull, D.M. (2001). "Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene." Annals of Neurology 50(1):104-107.

top of page

Taylor, R.W., Taylor, G.A., Morris, C.M., Edwardson, J.M. and Turnbull, D.M. (1998). "Diagnosis of mitochondrial disease: assessment of mitochondrial DNA heteroplasmy in blood." Biochemical & Biophysical Research Communications 251(3):883-887.

Telerman-Toppet, N., Biarent, D., Bouton, J. M., de Meirleir, L., Elmer, C., Noel, S., Vamos, E. and DiMauro, S. (1992). "Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts." Journal of Inherited Metabolic Disease 15(3):323-326.

Templeton, A. R. (1992). "Human origins and analysis of mitochondrial DNA sequences [letter; comment] [see comments]." Science 255(5045):737.

Tengan, C. H., Ferreiro-Barros, C., Cardeal, M., Fireman, M. A., Oliveira, A. S., Kiyomoto, B. H. and Gabbai, A. A. (2002). "Frequency of duplications in the D-loop in patients with mitochondrial DNA deletions." Biochimica et Biophysica Acta 1588(1):65-70.

Tengan, C. H., Gabbai, A. A., Shanske, S., Zeviani, M. and Moraes, C. T. (1997). "Oxidative phosphorylation dysfunction does not increase the rate of accumulation of age-related mtDNA deletions in skeletal muscle." Mutation Research 379(1):1-11.

Tengan, C. H., Kiyomoto, B. H., Rocha, M. S., Tavares, V. L., Gabbai, A. A. and Moraes, C. T. (1998). "Mitochondrial encephalomyopathy and hypoparathyroidism associated with a duplication and a deletion of mitochondrial deoxyribonucleic acid." Journal of Clinical Endocrinology & Metabolism 83(1):125-129.

Tengan, C. H. and Moraes, C. T. (1998). "Duplication and triplication with staggered breakpoints in human mitochondrial DNA." Biochimica et Biophysica Acta 1406(1):73-80.

Teraoka, M., Yokoyama, Y., Ninomiya, S., Inoue, C., Yamashita, S. and Seino, Y. (1999). "Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiency." Human Genetics 105(6):560-563.

Terasaki, F., Tanaka, M., Kawamura, K., Kanzaki, Y., Okabe, M., Hayashi, T., Shimomura, H., Ito, T., Suwa, M., Gong, J.S., Zhang, J. and Kitaura, Y. (2001). "A case of cardiomyopathy showing progression from the hypertrophic to the dilated form: association of Mt8348A-->G mutation in the mitochondrial tRNA(Lys) gene with severe ultrastructural alterations of mitochondria in cardiomyocytes." Japanese Circulation Journal 65(7):691-694.

Tesfamariam, B. (1994). "Selective impairment of endothelium-dependent relaxations by prostaglandin endoperoxide." Journal of Hypertension 12(1):41-47.

Tessa, A., Giannotti, A., Tieri, L., Vilarinho, L., Marotta, G. and Santorelli, F.M. (2001). "Maternally inherited deafness associated with a T1095C mutation in the mDNA." European Journal of Human Genetics 9(2):147-149.

Thakar, J. H. and Hassan, M. N. (1988). "Effects of 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), cyperquat (MPP+) and paraquat on isolated mitochondria from rat striatum, cortex and liver." Life Sciences 43(2):143-149.

Thakar, J. H., Hassan, M. N. and Grimes, J. D. (1988). "1-Methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), its metabolite cyperquat (MPP+) and energy transduction in mitochondria from rat striatum and liver." Progress in Neuro-Psychopharmacology & Biological Psychiatry 12(2-3):355-362.

tHart, L. M., Jansen, J. J., Lemkes, H. H., de Knijff, P. and Maassen, J. A. (1996). "Heteroplasmy levels of a mitochondrial gene mutation associated with diabetes mellitus decrease in leucocyte DNA upon aging." Human Mutation 7(3):193-197.

Thekkumkara, T. J., Ho, L., Wexler, I. D., Pons, G., Liu, T. C. and Patel, M. S. (1988). "Nucleotide sequence of a cDNA for the dihydrolipoamide acetyltransferase component of human pyruvate dehydrogenase complex." FEBS Letters 240(1-2):45-48.

Thobois, S., Vighetto, A., Grochowicki, M., Godinot, C., Broussolle, E. and Aimard, G. (1997). "[Leber "plus" disease: optic neuropathy, parkinsonian syndrome and supranuclear ophthalmoplegia]." Revue Neurologique 153(10):595-598.

Thomas, A. W., Edwards, A., Sherratt, E. J., Majid, A., Gagg, J. and Alcolado, J. C. (1996). "Molecular scanning of candidate mitochondrial tRNA genes in type 2 (non-insulin dependent) diabetes mellitus." Journal of Medical Genetics 33(3):253-256.

Thomas, A. W., Morgan, R., Majid, A., Rees, A. and Alcolado, J. C. (1995). "Detection of mitochondrial DNA mutations in patients with diabetes mellitus [letter; comment]." Diabetologia 38(3):376-377.

Thomas, A. W., Morgan, R., Sweeney, M., Rees, A. and Alcolado, J. (1994). "The detection of mitochondrial DNA mutations using single stranded conformation polymorphism (SSCP) analysis and heteroduplex analysis." Human Genetics 94(6):621-623.

Thomas, M. G., Cook, C. E., Miller, K. W., Waring, M. J. and Hagelberg, E. (1998). "Molecular instability in the COII-tRNA(Lys) intergenic region of the human mitochondrial genome: multiple origins of the 9-bp deletion and heteroplasmy for expanded repeats." Philosophical Transactions of the Royal Society of London - Series B: Biological Sciences 353(1371):955-965.

Thomeer, E. C., Verhoeven, W. M., van de Vlasakker, C. J. and Klompenhouwer, J. L. (1998). "Psychiatric symptoms in MELAS; a case report." Journal of Neurology, Neurosurgery and Psychiatry 64(5):692-693.

Thompson, P. D., Hammans, S. R. and Harding, A. E. (1994). "Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNALys(8344) (MERRF) mutation." Journal of Neurology 241(5):335-340.

Thomson, R. (1998). "Ages of mutations on a coalescent tree." Mathematical Biosciences 153(1):41-61.

Thorns, C., Widjaja, A., Boeck, N., Skamira, C. and Zuhlke, H. (1998). "Maternally-inherited diabetes and deafness: report of two affected German families with the A3243G mitochondrial DNA mutation." Experimental & Clinical Endocrinology & Diabetes 106(5):384-388.

Threadgill, D. W., Matin, A., Yee, D., Carrasquillo, M. M., Henry, K. R., Rollins, K. G., Nadeau, J. H. and Magnuson, T. (1997). "SSLPs to map genetic differences between the 129 inbred strains and closed-colony, random-bred CD-1 mice." Mammalian Genome 8(6):441-442.

Thyagarajan, D., Bressman, S., Bruno, C., Przedborski, S., Shanske, S., Lynch, T., Fahn, S. and DiMauro, S. (2000). "A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy." Annals of Neurology 48(5):730-736.

Thyagarajan, D., Shanske, S., Vazquez-Memije, M., De Vivo, D. and DiMauro, S. (1995). "A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis." Annals of Neurology 38(3):468-472.

Tiernan, J. M., Ward, L. C. and Cooksley, W. G. (1985). "Inhibition by ethanol of cardiac protein synthesis in the rat." International Journal of Biochemistry 17(7):793-798.

Tikochinski, Y., Ritte, U., Gross, S. R., Prager, E. M. and Wilson, A. C. (1991). "MtDNA polymorphism in two communities of Jews." American Journal of Human Genetics 48:129-136.

Tiranti, V., Carrara, F., Confalonieri, P., Mora, M., Maffei, R. M., Lamantea, E. and Zeviani, M. (1999). "A novel mutation (8342G-->A) in the mitochondrial tRNA(Lys) gene associated with progressive external ophthalmoplegia and myoclonus." Neuromuscular Disorders 9(2):66-71.

Tiranti, V., Chariot, P., Carella, F., Toscano, A., Soliveri, P., Girlanda, P., Carrara, F., Fratta, G. M., Reid, F. M., Mariotti, C. and Zeviani, M. (1995). "Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene." Human Molecular Genetics 4(8):1421-1427.

Tiranti, V., D'Agruma, L., Pareyson, D., Mora, M., Carrara, F., Zelante, L., Gasparini, P. and Zeviani, M. (1998). "A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation." Annals of Neurology 43(1):98-101.

Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., Bayona-Bafaluy, M. P., Enriquez, J. A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T. and Zeviani, M. (1998). "Mutations of SURF-1 in Leigh Disease associated with cytochrome c oxidase deficiency." American Journal of Human Genetics 63(6):1609-1621.

Tiranti, V., Rossi, E., Ruiz-Carrillo, A., Rossi, G., Rocchi, M., DiDonato, S., Zuffardi, O. and Zeviani, M. (1995). "Chromosomal localization of mitochondrial transcription factor A (TCF6), single-stranded DNA-binding protein (SSBP), and endonuclease G (ENDOG), three human housekeeping genes involved in mitochondrial biogenesis." Genomics 25(2):559-564.

Toda, H., Hosokawa, Y., Nishikimi, M., Suzuki, H., Kato, K. and Ozawa, T. (1989). "Cloning and sequencing of a cDNA encoding the precursor to the 24 kDa iron-sulfur protein of human mitochondrial NADH dehydrogenase." International Journal of Biochemistry 21(10):1161-1168.

Tokunaga, M., Mita, S., Murakami, T., Kumamoto, T., Uchino, M., Nonaka, I. and Ando, M. (1994). "Single muscle fiber analysis of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." Annals of Neurology 35(4):413-419.

Tokunaga, M., Mita, S., Sakuta, R., Nonaka, I. and Araki, S. (1993). "Increased mitochondrial DNA in blood vessels and ragged-red fibers in mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)." Annals of Neurology 33:275-280.

Tokunaga, M., Mita, S. and Uchino, M. (1997). "[Single-fiber polymerase chain reaction for detection of mutant mitochondrial DNA]." Nippon Rinsho - Japanese Journal of Clinical Medicine 55(12):3291-3294.

Tomkinson, A. E., Bonk, R., T. and Linn, S. (1988). "Mitochondrial endonuclease activities specific for apurinic/apyrimidinic sites in DNA from mouse cells." Journal of Biological Chemistry 263(25):12532-12537.

Tomkinson, A. E., Bonk, R. T., Kim, J., Bartfeld, N. and Linn, S. (1990). "Mammalian mitochondrial endonucleasse activities specific for ultraviolet-irradiated DNA." Nucleic Acids Research 18(4):929-935.

Ton, C., Hwang, D. M., Dempsey, A. A. and Liew, C. C. (1997). "Identification and primary structure of five human NADH-ubiquinone oxidoreductase subunits." Biochemical and Biophysical Research Communications 241(2):589-594.

Tono, T., Ushisako, Y., Kiyomizu, K., Usami, S., Abe, S., Shinkawa, H. and Komune, S. (1998). "Cochlear implantation in a patient with profound hearing loss with the A1555G mitochondrial mutation." American Journal of Otology 19(6):754-757.

Toompuu, M., Yasukawa, T., Suzuki, T., Hakkinen, T., Spelbrink, J. N., Watanabe, K. and Jacobs, H. T. (2002). "The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover." Journal of Biological Chemistry 277(25):22240-22250.

Topaloglu, H., Seyrantepe, V., Kandemir, N., Akcoren, Z. and Ozguc, M. (1998). "mtDNA nt3243 mutation, external ophthalmoplegia, and hypogonadism in an adolescent girl." Pediatric Neurology 18(5):429-431.

Torii, K., Sugiyama, S., Tanaka, M., Takagi, K., Hanaki, Y., Iida, K., Matsuyama, M., Hirabayashi, N., Uno, Y. and Ozawa, T. (1992). "Aging-associated deletions of human diaphragmatic mitochondrial DNA." American Journal of Respiratory Cell and Molecular Biology 6:543-549.

Torroni, A., Bandelt, H. J., D'Urbano, L., Lahermo, P., Moral, P., Sellitto, D., Rengo, C., Forster, P., Savontaus, M. L., Bonne-Tamir, B. and Scozzari, R. (1998). "mtDNA analysis reveals a major late Paleolithic population expansion from southwestern to northeastern Europe." American Journal of Human Genetics 62(5):1137-1152.

Torroni, A., Brown, M. D., Lott, M. T., Newman, N. J., Wallace, D. C. and The Cuban Neuropathy Field Investigation Team (1995). "African, Native American and European mitochondrial DNAs in Cubans from the Pinar del Rio Province and implications for the recent epidemic neuropathy in Cuba." Human Mutation 5(4):310-317.

Torroni, A., Campos, Y., Rengo, C., Sellitto, D., Achilli, A., Magri, C., Semino, O., Garcia, A., Jara, P., Arenas, J. and Scozzari, R. (2003). "Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation." American Journal of Human Genetics 72(4):1005-1012.

Torroni, A., Carelli, V., Petrozzi, M., Terracina, M., Barboni, P., Malpassi, P., Wallace, D. C. and Scozzari, R. (1996). "Detection of the mtDNA 14484 mutation on an African-specific haplotype: implications about its role in causing Leber hereditary optic neuropathy." American Journal of Human Genetics 59(1):248-252.

Torroni, A., Chen, Y., Semino, O., Santachiara-Beneceretti, A. S., Scott, C. R., Lott, M. T., Winter, M. and Wallace, D. C. (1994). "MtDNA and Y-chromosome polymorphisms in four native American populations from southern Mexico." American Journal of Human Genetics 54(2):303-318.

Torroni, A., Cruciani, F., Rengo, C., Sellitto, D., N, L. p.-B., Rabionet, R., Govea, N., A, L. p. D. M., Sarduy, M., Romero, L., Villamar, M., del Castillo, I., Moreno, F., Estivill, X. and Scozzari, R. (1999). "The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness." American Journal of Human Genetics 65(5):1349-1358.

Torroni, A., D'Urbano, L., Rengo, C., Scozzari, R., Sbracia, M., Manna, C., Cavazzini, C. and Sellitto, D. (1998). "Intracytoplasmic injection of spermatozoa does not appear to alter the mode of mitochondrial DNA inheritance [letter]." Human Reproduction 13(6):1747-1749.

top of page

Torroni, A., Huoponen, K., Francalacci, P., Petrozzi, M., Morelli, L., Scozzari, R., Obinu, D., Savontaus, M. L. and Wallace, D. C. (1996). "Classification of European mtDNAs from an analysis of three European populations." Genetics 144(4):1835-1850.

Torroni, A., Lott, M. T., Cabell, M. F., Chen, Y., Laverge, L. and Wallace, D. C. (1994). "MtDNA and the origin of Caucasians. Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region." American Journal of Human Genetics 55(4):760-776.

Torroni, A., Miller, J. A., Moore, L. G., Zamudio, S., Zhuang, J., Droma, R. and Wallace, D. C. (1994). "Mitochondrial DNA analysis in Tibet. Implications for the origin of the Tibetan population and its adaptation to high altitude." American Journal of Physical Anthropology 93(2):189-199.

Torroni, A., Neel, J. V., Barrantes, R., Schurr, T. G. and Wallace, D. C. (1994). "A mitochondrial DNA "clock" for the Amerinds and its implication for timing their entry into North America." Proceedings of the National Academy of Sciences of the United States of America 91(3):1158-1162.

Torroni, A., Petrozzi, M., D'Urbano, L., Sellitto, D., Zeviani, M., Carrara, F., Carducci, C., Leuzzi, V., Carelli, V., Barboni, P., De Negri, A. and Scozzari, R. (1997). "Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484." American Journal of Human Genetics 60(5):1107-11021.

Torroni, A., Petrozzi, M., Santolamazza, P., Sellitto, D., Cruciani, F. and Scozzari, R. (1995). "About the "Asian"-specific 9-bp deletion of mtDNA.... [letter]." American Journal of Human Genetics 57(2):507-508.

Torroni, A., Rengo, C., Guida, V., Cruciani, F., Sellitto, D., Coppa, A., Calderon, F. L., Simionati, B., Valle, G., Richards, M., Macaulay, V. and Scozzari, R. (2001). "Do the four clades of the mtDNA haplogroup L2 evolve at different rates?" American Journal of Human Genetics 69(6):1348-1356.

Torroni, A., Schurr, T. G., Cabell, M. F., Brown, M. D., Neel, J. V., Larsen, M., Smith, D. G., Vullo, C. M. and Wallace, D. C. (1993). "Asian affinities and continental radiation of the four founding Native American mtDNAs [see comments]." American Journal of Human Genetics 53(3):563-590.

Torroni, A., Schurr, T. G., Yang, C.-C., Szathmary, E. J., Williams, R. C., Schanfield, M. S., Troup, G. A., Knowler, W. C., Lawrence, D. N. and Weiss, K. M. (1992). "Native American mitochondrial DNA analysis indicates that the Amerind and the Nadene populations were founded by two independent migrations." Genetics 130:153-162.

Torroni, A., Semino, O., Rose, G., DeBenedictis, G., Brancati, C. and Santachiara-Benerecetti, A. S. (1990). "Mitochondrial DNA polymorphisms in the Albanian population of Calabria (Southern Italy)." International Journal of Anthropology 5:97-104.

Torroni, A., Semino, O., Scozzari, R., Sirugo, G., Spedini, G., Abbas, N., Fellous, M. and Santachiara-Benerecetti, A. S. (1990). "Y chromosome DNA polymorphisms in human populaitons: differences between Caucasoids and Africans detected by 49a and 49f probes." Annals of Human Genetics 54(Pt 4):287-296.

Torroni, A., Stepien, G., Hodge, J. A. and Wallace, D. C. (1990). "Neoplastic transformation is associated with coordinate induction of nuclear and cytoplasmic oxidative phosphorylation genes." Journal of Biological Chemistry 265(33):20589-20593.

Torroni, A., Sukernik, R. I., Schurr, T. G., Starikovskaya, Y. B., Cabell, M. F., Crawford, M. H., Comuzzie, A. G. and Wallace, D. C. (1993). "MtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans." American Journal of Human Genetics 53(3):591-608.

Torroni, A. and Wallace, D. C. (1994). "Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance." Journal of Bioenergetics and Biomembranes 26(3):261-271.

Torroni, A. and Wallace, D. C. (1995). "MtDNA haplogroups in Native Americans [see also comment: Am. J. Hum. Genet. 56:1236-1238, 1995]." American Journal of Human Genetics 56(5):1234-1236.

Toth, T., Bokay, J., Szonyi, L., Nagy, B. and Papp, Z. (1998). "Detection of mtDNA deletion in Pearson syndrome by two independent PCR assays from Guthrie card." Clinical Genetics 53(3):210-213.

Travis, J. (1995). "Do brain cells run out of gas?" Science News 148(6):84.

Treem, W. R. and Sokol, R. J. (1998). "Disorders of the mitochondria." Seminars in Liver Disease 18(3):237-253.

Triepels, R., van den Heuvel, L., Loeffen, J., Smeets, R., Trijbels, F. and Smeitink, J. (1998). "The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients." Human Genetics 103(5):557-563.

Tritschler, H.-J., Andreetta, F., Moraes, C. T., Bonilla, E., Arnaudo, E., Danon, M. J., Glass, S., Zelaya, B. M., Vamos, E., Telerman-Toppet, N., Shanske, S., Kadenback, B., DiMauro, S. and Schon, E. A. (1992). "Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA." Neurology 42(1):209-217.

Tritschler, H. J. and Medori, R. (1993). "Mitochondrial DNA alterations as a source of human disorders." Neurology 43(2):280-288.

Tronche, F., Kellendonk, C., Kretz, O., Gass, P., Anlag, K., Orban, P. C., Bock, R., Klein, R. and Schutz, G. (1999). "Disruption of the glucocorticoid receptor gene in the nervous system results in reduced anxiety." Nature Genetics 23(1):99-103.

Trounce, I., Byrne, E. and Marzuki, S. (1989). "Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing." Lancet 1:637-639.

Trounce, I., Byrne, E., Marzuki, S., Dennett, X., Sudoyo, H., Mastaglia, F. and Berkovic, S. F. (1991). "Functional respiratory chain studies in subjects with chronic progressive external ophthalmoplegia and large heteroplasmic mitochondrial DNA deletions." Journal of the Neurological Sciences 102:92-99.

Trounce, I., Neill, S. and Wallace, D. C. (1994). "Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio." Proceedings of the National Academy of Sciences of the United States of America 91(18):8334-8338.

Trounce, I., Schmiedel, J., Yen, H. C., Hosseini, S., Brown, M. D., Olson, J. J. and Wallace, D. C. (2000). "Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells." Nucleic Acids Research 28(10):2164-2170.

Trounce, I. and Wallace, D. C. (1996). "Production of transmitochondrial mouse cell lines by cybrid rescue of rhodamine-6G pre-treated L-cells." Somatic Cell and Molecular Genetics 22(1):81-85.

Trounce, I. A., Kim, Y. L., Jun, A. S. and Wallace, D. C. (1996). "Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines." Methods in Enzymology 264:484-509.

Trumpower, B. L. and Gennis, R. B. (1994). "Energy transduction by cytochrome complexes in mitochondrial and bacterial respiration: the enzymology of coupling electron transfer reactions to transmembrane proton translocation." Annual Review of Biochemistry 63:675-716.

Tsuiki, T., Murai, K., Murai, S., Kitamura, K. and Tamagawa, Y. (1997). "Audiologic features of hearing loss due to the 1,555 mutation of mitochondrial DNA." Annals of Otology, Rhinology & Laryngology 106(8):643-648.

Tsujimoto, Y. and Croce, C. M. (1986). "Analysis of the structure, transcripts, and protein products of bcl-2, the gene involved in human follicular lymphoma." Proceedings of the National Academy of Sciences of the United States of America 83(14):5214-5218.

Tsukihara, T., Aoyama, H., Yamashita, E., Tomizaki, T., Yamaguchi, H., Shinzawa-Itoh, K., Nakashima, R., Yaono, R. and Yoshikawa, S. (1995). "Structures of metal sites of oxidized bovine heart cytochrome c oxidase at 2.8 A." Science 269(5227):1069-1074.

Tsukihara, T., Aoyama, H., Yamashita, E., Tomizaki, T., Yamaguchi, H., Shinzawa-Itoh, K., Nakashima, R., Yaono, R. and Yoshikawa, S. (1996). "The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A [see comments]." Science 272(5265):1136-1144.

Tsukuda, K., Suzuki, Y., Kameoka, K., Osawa, N., Goto, Y., Katagiri, H., Asano, T., Yazaki, Y. and Oka, Y. (1997). "Screening of patients with maternally transmitted diabetes for mitochondrial gene mutations in the tRNA[Leu(UUR)] region [see comments]." Diabetic Medicine 14(12):1032-1037.

Tudek, B., Laval, J. and Boiteux, S. (1993). "SOS-independent mutagenesis in lacZ induced by methylene blue plus visible light." Molecular and General Genetics 236(2-3):433-439.

Tulinius, M. H., Houshmand, M., Larsson, N. G., Holme, E., Oldfors, A., Holmberg, E. and Wahlstrom, J. (1995). "De novo mutation in the mitochondrial ATP synthase subunit 6 gene (T8993G) with rapid segregation resulting in Leigh syndrome in the offspring." Human Genetics 96(3):290-294.

Tulinius, M., Moslemi, A. R., Darin, N., Westerberg, B., Wiklund, L. M., Holme, E. and Oldfors, A. (2003). "Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene." Neuropediatrics 34(2):87-91.

Turner, C. G., II (1983). "Dental evidence for the peopling of the Americas." In Early Man in the New World: 147-157; Beverly Hills, Calif., Sage. Shutler, R., Jr., Ed.

Turner, C. G., II (1987). "Late Pleistocene and Holocene population history of East Asia based on dental variation." American Journal of Physical Anthropology 73(3):305-321.

Turner, L. F., Kaddoura, S., Harrington, D., Cooper, J. M., Poole-Wilson, P. A. and Schapira, A. H. (1998). "Mitochondrial DNA in idiopathic cardiomyopathy." European Heart Journal 19(11):1725-1729.

Turrens, J. F., Alexandre, A. and Lehninger, A. L. (1985). "Ubisemiquinone is the electron donor for superoxide formation by complex III of heart mitochondria." Archives of Biochemistry and Biophysics 237(2):408-414.

Turrens, J. F. and Boveris, A. (1980). "Generation of superoxide anion by the NADH dehydrogenase of bovine heart mitochondria." Biochemical Journal 191(2):421-427.

Tuschen, G., Sackmann, U., Nehls, U., Haiker, H., Buse, G. and Weiss, H. (1990). "Assembly of NADH: ubiquinone reductase (complex I) in Neurospora mitochondria. Independent pathways of nuclear-encoded and mitochondrially encoded subunits." Journal of Molecular Biology 213(4):845-857.

Tzagoloff, A. (1982). Mitochondria. New York, Plenum Press.

Tzagoloff, A., Wu, M. A. and Crivellone, M. (1986). "Assembly of the mitochondrial membrane system. Characterization of COR1, the structural gene for the 44-kilodalton core protein of yeast coenzyme QH2-cytochrome c reductase." Journal of Biological Chemistry 261:17163-17169.

U

top of page

Ueda, N., Oshima, T., Ikeda, K., Abe, K., Aoki, M. and Takasaka, T. (1998). "Mitochondrial DNA deletion is a predisposing cause for sensorineural hearing loss." Laryngoscope 108(4 Pt 1):580-584.

Uncini, A., Servidei, S., Silvestri, G., Manfredi, G., Sabatelli, M., Di Muzio, A., Ricci, E., Mirabella, M., Di Mauro, S. and Tonali, P. (1994). "Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name." Muscle and Nerve 17(6):667-674.

Underhill, P. A., Jin, L., Lin, A. A., Mehdi, S. Q., Jenkins, T., Vollrath, D., Davis, R. W., Cavalli-Sforza, L. L. and Oefner, P. J. (1997). "Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography [letter; see comments]." Genome Research 7(10):996-1005.

Underhill, P. A., Shen, P., Lin, A. A., Jin, L., Passarino, G., Yang, W. H., Kauffman, E., Bonne-Tamir, B., Bertranpetit, J., Francalacci, P., Ibrahim, M., Jenkins, T., Kidd, J. R., Mehdi, S. Q., Seielstad, M. T., Wells, R. S., Piazza, A., Davis, R. W., Feldman, M. W., Cavalli-Sforza, L. L. and Oefner, P. J. (2000). "Y chromosome sequence variation and the history of human populations." Nature Genetics 26(3):358-361.

Urata, M., Wakiyama, M., Iwase, M., Yoneda, M., Kinoshita, S., Hamasaki, N. and Kang, D. (1998). "New sensitive method for the detection of the A3243G mutation of human mitochondrial deoxyribonucleic acid in diabetes mellitus patients by ligation-mediated polymerase chain reaction." Clinical Chemistry 44(10):2088-2093.

Urbano-Marquez, A., Estruch, R., Navarro-Lopez, F., Grau, J. M., Mont, L. and Rubin, E. (1989). "The effects of alcoholism on skeletal and cardiac muscle [see comments]." New England Journal of Medicine 320(7):409-415.

Usami, S., Abe, S., Shinkawa, H. and Kimberling, W. J. (1998). "Sensorineural hearing loss caused by mitochondrial DNA mutations: special reference to the A1555G mutation." Journal of Communication Disorders 31(5):423-434; quiz 434-435.

Usami, S., Abe, S., Tono, T., Komune, S., Kimberling, W. J. and Shinkawa, H. (1998). "Isepamicin sulfate-induced sensorineural hearing loss in patients with the 1555 A-->G mitochondrial mutation." Orl; Journal of Oto-Rhino-Laryngology & its Related Specialties 60(3):164-169.

Uziel, G., Moroni, I., Lamantea, E., Fratta, G. M., Ciceri, E., Carrara, F. and Zeviani, M. (1997). "Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families." Journal of Neurology, Neurosurgery & Psychiatry 63(1):16-22.

V

top of page

Valentino, M.L., Avoni, P., Barboni, P., Pallotti, F., Rengo, C., Torroni, A., Bellan, M., Baruzzi, A. and Carelli, V. (2002). "Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy." Annals of Neurology 51(6):774-778.

Valnot, I., Kassis, J., Chretien, D., de Lonlay, P., Parfait, B., Munnich, A., Kachaner, J., Rustin, P. and Rotig, A. (1999). "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Human Genetics 104(6):460-466.

Valnot, I., Osmond, S., Gigarel, N., Mehaye, B., Bonnefont, J. P., Cormier-Daire, V., Munnich, A., Rustin, P. and Rotig, A. (2000). "Mutations in SC01 gene causes mitochondrial cytochrome c oxidase deficiency presenting as neonatal-onset hepatic failure and encephalopathy. Abstract #60." American Journal of Human Genetics 67(4 Suppl 2):A20.

Valnot, I., von Kleist-Retzow, J. C., Barrientos, A., Gorbatyuk, M., Taanman, J. W., Mehaye, B., Rustin, P., Tzagoloff, A., Munnich, A. and Rotig, A. (2000). "A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency." Human Molecular Genetics 9(8):1245-1249.

Van Beeumen, J. J., Van Kuilenburg, A. B., Van Bun, S., Van den Bogert, C., Tager, J. M. and Muijsers, A. O. (1990). "Demonstration of two isoforms of subunit VIIa of cytochrome c oxidase from human skeletal muscle. Implications for mitochondrial myopathies." FEBS Letters 263(2):213-216.

van de Corput, M. P., van den Ouweland, J. M., Dirks, R. W., tHart, L. M., Bruining, G. J., Maassen, J. A. and Raap, A. K. (1997). "Detection of mitochondrial DNA deletions in human skin fibroblasts of patients with Pearson's syndrome by two-color fluorescence in situ hybridization." Journal of Histochemistry & Cytochemistry 45(1):55-61.

van den Heuvel, L., Ruitenbeek, W., Smeets, R., Gelman-Kohan, Z., Elpeleg, O., Loeffen, J., Trijbels, F., Mariman, E., de Bruijn, D. and Smeitink, J. (1998). "Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit." American Journal of Human Genetics 62(2):262-268.

van den Ouweland, J. M., Bruining, G. J., Lindhout, D., Wit, J. M., Veldhuyzen, B. F. and Maassen, J. A. (1992). "Mutations in mitochondrial tRNA genes: non-linkage with syndromes of Wolfram and chronic progressive external ophthalmoplegia." Nucleic Acids Research 20(4):679-682.

van den Ouweland, J. M., Lemkes, H. H., Gerbitz, K. D. and Maassen, J. A. (1995). "Maternally inherited diabetes and deafness (MIDD): a distinct subtype of diabetes associated with a mitochondrial tRNALeu(UUR) gene point mutation." Muscle and Nerve 3(30):S124-130.

van den Ouweland, J. M., Lemkes, H. H., Trembath, R. C., Ross, R., Velho, G., Cohen, D., Froguel, P. and Maassen, J. A. (1994). "Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNALeu(UUR) gene." Diabetes 43(6):746-751.

van den Ouweland, J. M., Lemkes, H. H. P., Ruitenbeek, W., Sandkjujl, L. A., deVijlder, M. F., Struyvenberg, P. A. A., van de Kamp, J. J. P. and Maassen, J. A. (1992). "Mutation in mitochondrial tRNALeu(UUR) gene in a large pedigree with maternally transmitted type II diabetes mellitus and deafness." Nature Genetics 1:368-371.

van den Ouweland, J. M., Maechler, P., Wollheim, C. B., Attardi, G. and Maassen, J. A. (1999). "Functional and morphological abnormalities of mitochondria harbouring the tRNA(Leu)(UUR) mutation in mitochondrial DNA derived from patients with maternally inherited diabetes and deafness (MIDD) and progressive kidney disease." Diabetologia 42(4):485-492.

Van Der Walt, J. M., Nicodemus, K. K., Martin, E. R., Scott, W. K., Nance, M. A., Watts, R. L., Hubble, J. P., Haines, J. L., Koller, W. C., Lyons, K., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., Jankovic, J., Ondo, W. G., Allen, F. H., Jr., Goetz, C. G., Small, G. W., Mastaglia, F., Stajich, J. M., McLaurin, A. C., Middleton, L. T., Scott, B. L., Schmechel, D. E., Pericak-Vance, M. A. and Vance, J. M. (2003). "Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease." American Journal of Human Genetics 72(4):804-811.

van Deutekom, J. C., Bakker, E., Lemmers, R. J., van der Wielen, M. J., Bik, E., Hofker, M. H., Padberg, G. W. and Frants, R. R. (1996). "Evidence for subtelomeric exchange of 3.3 kb tandemly repeated units between chromosomes 4q35 and 10q26: implications for genetic counselling and etiology of FSHD1." Human Molecular Genetics 5(12):1997-2003.

Van Goethem, G., Dermaut, B., Lofgren, A., Martin, J. J. and Van Broeckhoven, C. (2001). "Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions." Nature Genetics 28(3):211-212.

van Holst Pellekaan, S., Frommer, M., Sved, J. and Boettcher, B. (1997). "Mitochondrial D-loop diversity in Australian riverine and Australian desert Aborigines." Electrophoresis 18(9):1538-1543.

van Holst Pellekaan, S., Frommer, M., Sved, J. and Boettcher, B. (1998). "Mitochondrial control-region sequence variation in aboriginal Australians." American Journal of Human Genetics 62(2):435-449.

Van Hove, J. L., Shanske, S., Ciacci, F., Ballinger, S., Shoffner, J. S., Wallace, D. C., Hanioka, T., Folkers, K., Bossen, E. H. and Kussin, P. S. (1994). "Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: a distinct late onset mitochondrial disorder." American Journal of Medical Genetics 51(2):114-120.

Van Kuilenburg, A. B., Muijsers, A. O., Demol, H., Dekker, H. L. and Van Beeumen, J. J. (1988). "Human heart cytochrome c oxidase subunit VIII. Purification and determination of the complete amino acid sequence." FEBS Letters 240(1-2):127-132.

Van Kuilenburg, A. B., Van Beeumen, J. J., Demol, H., Van den Bogert, C., Schouten, I. and Muijsers, A. O. (1992). "Subunit IV of human cytochrome c oxidase, polymorphism and a putative isoform." Biochimica et Biophysica Acta 1119(2):218-224.

Van Kuilenburg, A. B., Van Beeumen, J. J., Van der Meer, N. M. and Muijsers, A. O. (1992). "Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart." European Journal of Biochemistry 203(1-2):193-199.

Van Remmen, H., Salvador, C., Yang, H., Huang, T. T., Epstein, C. J. and Richardson, A. (1999). "Characterization of the antioxidant status of the heterozygous manganese superoxide dismutase knockout mouse." Archives of Biochemistry and Biophysics 363(1):91-97.

Van Voorhies, W. A. and Ward, S. (1999). "Genetic and environmental conditions that increase longevity in Caenorhabditis elegans decrease metabolic rate." Proceedings of the National Academy of Sciences of the United States of America 96(20):11399-11403.

Van Zuylen, A. J., Bosman, G. J., Ruitenbeek, W., Van Kalmthout, P. J. and De Grip, W. J. (1992). "No evidence for reduced thrombocyte cytochrome oxidase activity in Alzheimer's disease." Neurology 42:1246-1247.

Vander Heiden, M. G., Chandel, N. S., Williamson, E. K., Schumacker, P. T. and Thompson, C. B. (1997). "Bcl-xL regulates the membrane potential and volume homeostasis of mitochondria [see comments]." Cell 91(5):627-637.

Varlamov, D. A., Kudin, A. P., Vielhaber, S., Schroder, R., Sassen, R., Becker, A., Kunz, D., Haug, K., Rebstock, J., Heils, A., Elger, C. E. and Kunz, W. S. (2002). "Metabolic consequences of a novel missense mutation of the mtDNA CO I gene." Human Molecular Genetics 11(16):1797-1805.

Vasioukhin, V., Degenstein, L., Wise, B. and Fuchs, E. (1999). "The magical touch: genome targeting in epidermal stem cells induced by tamoxifen application to mouse skin." Proceedings of the National Academy of Sciences of the United States of America 96(15):8551-8556.

Vazquez-Acevedo, M., Coria, R., Gonzalez-Astiazaran, A., Medina-Crespo, V., Ridaura-Sanz, C. and Gonzalez-Halphen, D. (1995). "Characterization of a 5025 base pair mitochondrial DNA deletion in Kearns-Sayre syndrome." Biochimica et Biophysica Acta 1271(2-3):363-368.

Vazquez-Memije, M. E., Shanske, S., Santorelli, F. M., Kranz-Eble, P., Davidson, E., DeVivo, D. C. and DiMauro, S. (1996). "Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome." Journal of Inherited Metabolic Disease 19(1):43-50.

Vazquez-Memije, M. E., Shanske, S., Santorelli, F. M., Kranz-Eble, P., DeVivo, D. C. and DiMauro, S. (1998). "Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations." Journal of Inherited Metabolic Disease 21(8):829-836.

Velculescu, V. E., Zhang, L., Vogelstein, B. and Kinzler, K. W. (1995). "Serial analysis of gene expression." Science 270(5235):484-487.

Venner, T. J., Singh, B. and Gupta, R. S. (1990). "Nucleotide sequences and novel structural features of human and Chinese hamster hsp60 (chaperonin) gene families." DNA and Cell Biology 9(8):545-552.

Veomett, G., Shay, J., Hough, P. V. and Prescott, D. M. (1976). "Large-scale enucleation of mammalian cells." Methods in Cell Biology 13:1-6.

Vergani, L., Martinuzzi, A., Carelli, V., Cortelli, P., Montagna, P., Schievano, G., Carrozzo, R., Angelini, C. and Lugaresi, E. (1995). "MtDNA mutations associated with Leber's hereditary optic neuropathy: studies on cytoplasmic hybrid (cybrid) cells." Biochemical and Biophysical Research Communications 210(3):880-888.

Verma, A., Piccoli, D. A., Bonilla, E., Berry, G. T., DiMauro, S. and Moraes, C. T. (1997). "A novel mitochondrial G8313A mutation associated with prominent initial gastrointestinal symptoms and progressive encephaloneuropathy." Pediatric Research 42(4):448-454.

Vernham, G. A., Reid, F. M., Rundle, P. A. and Jacobs, H. T. (1994). "Bilateral sensorineural hearing loss in members of a maternal lineage with mitochondrial point mutation." Clinical Otolaryngology 19(4):314-319.

Vialettes, B., Narbonne, H., Silvestre-Aillaud, P., Bendahan, D. and Paquis-Flucklinger, V. (1997). "[Clinical manifestation of diabetes from mitochondrial cytopathy]." Journees Annuelles de Diabetologie de l Hotel-Dieu:17-23.

Vialettes, B. H., Paquis-Flucklinger, V., Pelissier, J. F., Bendahan, D., Narbonne, H., Silvestre-Aillaud, P., Montfort, M. F., Righini-Chossegros, M., Pouget, J., Cozzone, P. J. and Desnuelle, C. (1997). "Phenotypic expression of diabetes secondary to a T14709C mutation of mitochondrial DNA. Comparison with MIDD syndrome (A3243G mutation): a case report." Diabetes Care 20(11):1731-1737.

Vidal-Puig, A. and Bjorbaek, C. (1997). "[Molecular genetics of non insulin dependent diabetes mellitus]." Medicina Clinica 109(3):107-114.

Vidal-Puig, A., Solanes, G., Grujic, D., Flier, J. S. and Lowell, B. B. (1997). "UCP3: an uncoupling protein homologue expressed preferentially and abundantly in skeletal muscle and brown adipose tissue." Biochemical and Biophysical Research Communications 235(1):79-82.

Vielhaber, S., Winkler, K., Kirches, E., Kunz, D., Buchner, M., Feistner, H., Elger, C. E., Ludolph, A. C., Riepe, M. W. and Kunz, W. S. (1999). "Visualization of defective mitochondrial function in skeletal muscle fibers of patients with sporadic amyotrophic lateral sclerosis." Journal of the Neurological Sciences 169(1-2):133-139.

Vienken, J. and Zimmermann, U. (1985). "An improved electrofusion technique for production of mouse hybridoma cells." FEBS Letters 182(2):278-280.

Vigilant, L., Pennington, R., Harpending, H., Kocher, T. D. and Wilson, A. C. (1989). "Mitochondrial DNA sequences in single hairs from a southern African population." Proceedings of the National Academy of Sciences of the United States of America 86:9350-9354.

Vigilant, L., Stoneking, M., Harpending, H., Hawkes, K. and Wilson, A. C. (1991). "African populations and the evolution of human mitochondrial DNA." Science 253:1503-1507.

Vigilant, L., Stoneking, M. and Wilson, A. C. (1988). "Conformational mutation in human mtDNA detected by direct sequencing of enzymatically amplified DNA." Nucleic Acids Research 16:5945-5955.

Vila, M. R., Segovia-Silvestre, T., Gamez, J., Marina, A., Naini, A. B., Meseguer, A., Lombes, A., Bonilla, E., DiMauro, S., Hirano, M. and Andreu, A. L. (2003). "Reversion of mtDNA depletion in a patient with TK2 deficiency." Neurology 60(7):1203-1205.

Vilarinho, L., Chorao, R., Cardoso, M. L., Rocha, H., Nogueira, C. and Santorelli, F. M. (1999). "The ND1 T3308C mutation may be a mtDNA polymorphism. Report of two Portuguese patients." Journal of Inherited Metabolic Disease 22(1):90-91.

Vilarinho, L., Maia, C., Coelho, T., Coutinho, P. and Santorelli, F. M. (1997). "Heterogeneous presentation in Leigh syndrome." Journal of Inherited Metabolic Disease 20(5):704-705.

Vilarinho, L., Santorelli, F. M., Cardoso, M. L., Coelho, T., Guimaraes, A. and Coutinho, P. (1998). "Mitochondrial DNA analysis in ocular myopathy. Observations in 29 Portuguese patients." European Neurology 39(3):148-153.

Vilarinho, L., Santorelli, F. M., Coelho, I., Rodrigues, L., Maia, M., Barata, I., Cabral, P., Dionisio, A., Costa, A., Guimaraes, A. and DiMauro, S. (1999). "The mitochondrial DNA A3243G mutation in Portugal: clinical and molecular studies in 5 families." Journal of the Neurological Sciences 163(2):168-174.

Vilarinho, L., Santorelli, F. M., Rosas, M. J., Tavares, C., Melo-Pires, M. and DiMauro, S. (1997). "The mitochondrial A3243G mutation presenting as severe cardiomyopathy." Journal of Medical Genetics 34(7):607-609.

Vilkki, J., Savontaus, M. L., Kalimo, H. and Nikoskelainen, E. K. (1989). "Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy." Human Genetics 82:208-212.

Vilkki, J., Savontaus, M. L. and Nikoskelainen, E. K. (1988). "Human mitochondrial DNA types in Finland." Human Genetics 80:317-321.

Vilkki, J., Savontaus, M. L. and Nikoskelainen, E. K. (1989). "Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism." American Journal of Human Genetics 45(2):206-211.

Vilkki, J., Savontaus, M. L. and Nikoskelainen, E. K. (1990). "Segregation of mitochondrial genomes in a heteroplasmic lineage with Leber hereditary optic neuroretinopathy." American Journal of Human Genetics 47(1):95-100.

Villani, G. and Attardi, G. (1997). "In vivo control of respiration by cytochrome c oxidase in wild-type and mitochondrial DNA mutation-carrying human cells." Proceedings of the National Academy of Sciences of the United States of America 94(4):1166-1171.

Vinogradov, A. D. (1993). "Kinetics, control, and mechanism of ubiquinone reduction by the mammalian respiratory chain-linked NADH-ubiquinone reductase." Journal of Bioenergetics and Biomembranes 25(4):367-375.

Vinson, C. R., LaMarco, K. L., Johnson, P. F., Landschulz, W. H. and McKnight, S. L. (1988). "In situ detection of sequence-specific DNA binding activity specified by a recombinant bacteriophage." Genes and Development 2(7):801-806.

Vionnet, N., Passa, P. and Froguel, P. (1993). "Prevalence of mitochondrial gene mutations in families with diabetes mellitus [letter]." Lancet 342:1429-1430.

Vionnet, N., Stoffel, M., Takeda, J., Yasuda, K., Bell, G. I., Zouali, H., Lesage, S., Velho, G., Iris, F., Passa, P., Froguel, P. and Cohen, D. (1992). "Nonsense mutation in the glucokinase gene causes early-onset non- insulin-dependent diabetes mellitus." Nature 356(6371):721-722.

Virbasius, J. V. and Scarpulla, R. C. (1988). "Structure and expression of rodent genes encoding the testis-specific cytochrome c. Differences in gene structure and evolution between somatic and testicular variants." Journal of Biological Chemistry 263(14):6791-6796.

Vissing, J., Salamon, M. B., Arlien-Soborg, P., Norby, S., Manta, P., DiMauro, S. and Schmalbruch, H. (1998). "A new mitochondrial tRNA(Met) gene mutation in a patient with dystrophic muscle and exercise intolerance." Neurology 50(6):1875-1878.

Vittecoq, D., Jardel, C., Barthelemy, C., Escaut, L., Cheminot, N., Chapin, S., Sternberg, D., Maisonobe, T. and Lombes, A. (2002). "Mitochondrial damage associated with long-term antiretroviral treatment: associated alteration or causal disorder?" Journal of Acquired Immune Deficiency Syndromes 31(3):299-308.

Vladimirova, O., O'Connor, J., Cahill, A., Alder, H., Butunoi, C. and Kalman, B. (1998). "Oxidative damage to DNA in plaques of MS brains." Multiple Sclerosis 4(5):413-418.

Voehringer, D. W., Hirschberg, D. L., Xiao, J., Lu, Q., Roederer, M., Lock, C. B., Herzenberg, L. A. and Steinman, L. (2000). "Gene microarray identification of redox and mitochondrial elements that control resistance or sensitivity to apoptosis." Proceedings of the National Academy of Sciences of the United States of America 97(6):2680-2685.

von Kleist-Retzow, J. C., Cormier-Daire, V., de Lonlay, P., Parfait, B., Chretien, D., Rustin, P., Feingold, J., Rotig, A. and Munnich, A. (1998). "A high rate (20%- 30%) of parental consanguinity in cytochrome-oxidase deficiency." American Journal of Human Genetics 63(2):428-435.

von Wurmb, N., Oehmichen, M. and Meissner, C. (1998). "Demonstration of the 4977 bp deletion in human mitochondrial DNA from intravital and postmortem blood." Mutation Research 422(2):247-254.

VonVoigtlander, P. F., Burian, M. A., Althaus, J. S. and Williams, L. R. (1990). "Effects of chronic haloperidol on vitamin E levels and monoamine metabolism in rats fed normal and vitamin E deficient diets." Research Communicatins in Chemical Pathology and Pharmacology 68(3):343-352.

W

top of page

Waardenburg, P. J. (1924). "Beitrag zur Verebung der familiaren Sehnervenatrophie (Leberschen Krankheit)." Klinische Moratsblatter fur Augenheilkunde 73:619-652.

Wakakura, M. and Yokoe, J. (1995). "Evidence for preserved direct pupillary light response in Leber's hereditary optic neuropathy." British Journal of Ophthalmology 79(5):442-446.

Wakeley, J. and Hey, J. (1997). "Estimating ancestral population parameters." Genetics 145(3):847-855.

Walberg, M. W. and Clayton, D. A. (1981). "Sequence and properties of the human KB cell and mouse L cell D-loop regions of mitochondrial DNA." Nucleic Acids Research 9(20):5411-5421.

Walberg, M. W. and Clayton, D. A. (1983). "In Vitro transcription of human mitochondrial DNA." Journal of Biological Chemistry 258:1268-1275.

Walder, K., Norman, R. A., Hanson, R. L., Schrauwen, P., Neverova, M., Jenkinson, C. P., Easlick, J., Warden, C. H., Pecqueur, C., Raimbault, S., Ricquier, D., Silver, M. H. K., Shuldiner, A. R., Solanes, G., Lowell, B. B., Chung, W. K., Leibel, R. L., Pratley, R. and Ravussin, E. (1998). "Association between uncoupling protein polymorphisms (UCP2-UCP3) and energy metabolism/obesity in Pima indians." Human Molecular Genetics 7(9):1431-1435.

Walker, C. and Shay, J. W. (1983). "Effect of mitochondrial dosage on transfer of chloramphenicol resistance." Somatic Cell Genetics 9(4):469-476.

Walker, J. E. (1992). "The NADH:ubiquinone oxidoreductase (complex I) of respiratory chains." Quarterly Reviews of Biophysics 25(3):253-324.

Walker, J. E. (1995). "Determination of the structures of respiratory enzyme complexes from mammalian mitochondria." Biochimica et Biophysica Acta 1271(1):221-227.

Walker, J. E., Arizmendi, J. M., Dupuis, A., Fearnley, I. M., Finel, M., Medd, S. M., Pilkington, S. J., Runswick, M. J. and Skehel, J. M. (1992). "Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction." Journal of Molecular Biology 226(4):1051-1072.

Walker, J. E. and Collinson, I. R. (1994). "The role of the stalk in the coupling mechanism of F1F0-ATPases." FEBS Letters 346(1):39-43.

Walker, J. E., Falk, G., Gay, N. J. and Tybulewicz, V. L. (1984). "Genes for bacterial and mitochondrial ATP synthase." Biochemical Society Transactions 12(2):234-235.

Walker, J. E., Powell, S. J., Vinas, O. and Runswick, M. J. (1989). "ATP synthase from bovine mitochondria: complementary DNA sequence of the import precursor of a heart isoform of the alpha subunit." Biochemistry 28(11):4702-4708.

Walker, J. E., Saraste, M. and Gay, N. J. (1982). "E. coli F1-ATPase interacts with a membrane protein component of a proton channel." Nature 298(5877):867-869.

Walker, M., Taylor, R., Armstrong, M. and Turnbull, D. M. (1994). "Complex aetiology of type 2 diabetes." British Journal of Hospital Medicine 52(4):179.

Walker, M., Taylor, R. W., Stewart, M. W., Bindoff, L. A., Jackson, M. J., Alberti, G. K. and Turnbull, D. M. (1995). "Insulin sensitivity and mitochondrial gene mutation [letter; comment]." Diabetes Care 18(2):273-275.

Walker, U. A. and Schon, E. A. (1998). "Neurotrophin-4 is up-regulated in ragged-red fibers associated with pathogenic mitochondrial DNA mutations." Annals of Neurology 43(4):536-540.

Wallace, D. C. (1970). "Leber's optic atrofia: a possible example of vertical transmission of a slow virus in man." Australasian Annals of Medicine 19:259-262.

Wallace, D. C. (1970). "A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance." Brain 93:121-132.

Wallace, D. C. (1981). "Assignment of the chloramphenicol resistance gene to mitochondrial deoxyribonucelic acid and analysis of its expression in cultured human cells." Molecular and Cellular Biology 1(8):697-710.

Wallace, D. C. (1982). "Cytoplasmic inheritance of chloramphenicol resistance in mammalian cells." In Techniques in Somatic Cell Genetics 12: 159-187; New York, Plenum Press. Shay, J. W., Ed.

Wallace, D. C. (1982). "Structure and evolution of organelle genomes." Microbiological Reviews 46(2):208-240.

Wallace, D. C. (1983). "Structure and evolution of organelle DNAs." In Endocytobiology II. Intracellular Space as Oligogenetic Ecosystem: 87-100; N.Y., deGruyter. Schenk, H. and Schewemmler, W., Eds.

Wallace, D. C. (1986). "Mitochodrial genes and disease." Hospital Practice (Office Edition) 21(10):77-87, 90-92.

Wallace, D. C. (1986). "Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance." Somatic Cell and Molecular Genetics 12(1):41-49.

Wallace, D. C. (1987). "Maternal genes: mitochondrial diseases." In Medical and Experimental Mammalian Genetics: A Perspective 23: 137-190; N.Y., A.R. Liss, Inc. for the March of Dimes Foundation. McKusick, V. A., Roderick, T. H., Mori, J. and Paul, M. W., Eds.

Wallace, D. C. (1989). "Mitochondrial DNA mutations in neuromuscular disease." Trends in Genetics 5(1):9-13.

Wallace, D. C. (1992). "Diseases of the mitochondrial DNA." Annual Review of Biochemistry 61:1175-1212.

Wallace, D. C. (1992). "Mitochondrial genetics: a paradigm for aging and degenerative diseases?" Science 256:628-632.

Wallace, D. C. (1993). "Mitochondrial diseases: genotype versus phenotype." Trends in Genetics 9(4):128-133.

Wallace, D. C. (1994). "Mitochondrial DNA mutations in diseases of energy metabolism." Journal of Bioenergetics and Biomembranes 26(3):241-250.

Wallace, D. C. (1994). "Mitochondrial DNA sequence variation in human evolution and disease." Proceedings of the National Academy of Sciences of the United States of America 91(19):8739-8746.

Wallace, D. C. (1995). "1994 William Allan Award Address. Mitochondrial DNA variation in human evolution, degenerative disease, and aging." American Journal of Human Genetics 57(2):201-223.

Wallace, D. C. (1995). "Mitochondrial DNA Mutations in Human Disease and Aging." In Molecular Aspects of Aging: 163-177; New York, John Wiley & Sons Ltd. Esser, K. and Martin, G. M., Eds.

Wallace, D. C. (1997). "Mitochondrial DNA in aging and disease." Scientific American 277(2):40-47.

Wallace, D. C. (1999). "Mitochondrial diseases in man and mouse." Science 283(5407):1482-1488.

Wallace, D. C. (2000). "Mitochondrial defects in cardiomyopathy and neuromuscular disease." American Heart Journal 139(2 Pt 3):S70-85.

Wallace, D. C., Brown, M. D. and Jun, A. S. (1993). "A mitochondrial DNA mutation at np14459 of the ND6 gene associated with maternally inherited Leber's hereditary optic neuropathy and dystonia." CCM93, Kobe, Japan.

Wallace, D. C., Brown, M. D. and Lott, M. T. (1996). "Mitochondrial Genetics." In Emery and Rimoin's Principles and Practice of Medical Genetics 1: 277-332; London, Churchill Livingstone. Rimoin, D. L., Connor, J. M., Pyeritz, R. E. and Emery, A. E. H., Eds.

Wallace, D. C., Brown, M. D. and Lott, M. T. (1999). "Mitochondrial DNA variation in human evolution and disease." Gene 238(1):211-230.

Wallace, D. C., Brown, M. D., Melov, S., Graham, B. and Lott, M. (1998). "Mitochondrial biology, degenerative diseases and aging." Biofactors 7(3):187-190.

Wallace, D. C., Bunn, C. L. and Eisenstadt, J. M. (1975). "Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells." Journal of Cell Biology 67(1):174-188.

Wallace, D. C., Bunn, C. L. and Eisenstadt, J. M. (1977). "Mitotic segregation of cytoplasmic inherited genes for chloramphenicol resistance in mammalian cells. II: Fusions with human cell lines." Somatic Cell Genetics 3(1):93-119.

Wallace, D. C., Garrison, K. and Knowler, W. C. (1985). "Dramatic founder effects in Amerindian mitochondrial DNAs." American Journal of Physical Anthropology 68(2):149-155.

Wallace, D. C. and Lott, M. T. (1992). "Maternally inherited diseases." In Mitochondrial DNA in Human Pathology: 63-83; N.Y., Raven Press. DiMauro, S. and Wallace, D. C., Eds.

Wallace, D. C., Lott, M. T. and Brown, M. D. (1996). "Report of the committee on human mitochondrial DNA." In Human Gene Mapping 1995, a Compendium: 1280-1331; Baltimore, The Johns Hopkins University Press. Cuticchia, A. J., Chipperfield, M. A. and Foster, P. A., Eds.

Wallace, D. C., Lott, M. T., Brown, M. D., Huoponen, K. and Torroni, A. (1995). "Report of the committee on human mitochondrial DNA." In Human Gene Mapping 1994, a Compendium: 910-954; Baltimore, The Johns Hopkins University Press. Cuticchia, A. J., Ed.

Wallace, D. C., Lott, M. T., Kogelnik, A. M., Brown, M. D. and Navathe, S. B. (1999). MITOMAP: A Human Mitochondrial Genome Database, Center for Molecular Medicine, Emory University (Atlanta, GA).

Wallace, D. C., Lott, M. T., Lezza, A. M., Seibel, P., Voljavec, A. S. and Shoffner, J. M. (1990). "Mitochondrial DNA mutations associated with neuromuscular diseases: analysis and diagnosis using the polymerase chain reaction." Pediatric Research 28(5):525-528.

Wallace, D. C., Lott, M. T., Shoffner, J. M. and Ballinger, S. (1994). "Mitochondrial DNA mutations in epilepsy and neurological disease." Epilepsia 35(Suppl 1):S43-S50.

top of page

Wallace, D. C. and Murdock, D. G. (1999). "Mitochondria and dystonia: the movement disorder connection?" Proceedings of the National Academy of Sciences of the United States of America 96(5):1817-1819.

Wallace, D. C., Pollack, Y., Bunn, C. L. and Eisenstadt, J. M. (1976). "Cytoplasmic inheritance in mammalian tissue culture cells." In Vitro 12(11):758-776.

Wallace, D. C., Richter, C., Bohr, V. A., Cortopassi, G., Kadenbach, B., Linn, S., Linnane, A. W. and Shay, J. W. (1995). "Group Report: The Role of Bioenergetics and Mitochondrial DNA Mutations in Aging and Age-Related Diseases." In Molecular Aspects of Aging: 199-225; New York, John Wiley & Sons Ltd. Esser, K. and Martin, G. M., Eds.

Wallace, D. C., Shoffner, J. M., Brown, M. D., Ballinger, S. W., Corral-Debrinski, M., Horton, T., Jun, A. S. and Lott, M. T. (1995). "Mitochondrial DNA mutations in human degenerative diseases and aging." Biochimica et Biophysica Acta 1271(1):141-151.

Wallace, D. C., Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T. and Cabell, M. (1992). "Mitochondrial DNA mutations associated with Alzheimer's and Parkinson's disease." American Journal of Human Genetics 51:A30.

Wallace, D. C., Shoffner, J. M., Watts, R. L., Juncos, J. L. and Torroni, A. (1992). "Mitochondrial oxidative phosphorylation defects in Parkinson's disease." Annals of Neurology 32:113-114.

Wallace, D. C., Singh, G., Hopkins, L. C. and Novotny, E. J. (1985). "Maternally Inherited Diseases of Man." In Achievements and Perspectives of Mitochondrial Research: Proceedings of the International Symposium on Achievements and Perspectives in Mitochondrial Research held in Rosa Marina (Italy) on September 2-6, 1985 II (Biogenesis): 427-436; New York, Elsevier Science Publishing Company. Quagliariello, E., Ed.

Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M., Elsas, L. J. and Nikoskelainen, E. K. (1988). "Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy." Science 242(4884):1427-1430.

Wallace, D. C., Stugard, C., Murdock, D., Schurr, T. and Brown, M. D. (1997). "Ancient mtDNA sequences in the human nuclear genome: a potential source of errors in identifying pathogenic mutations." Proceedings of the National Academy of Sciences of the United States of America 94(26):14900-14905.

Wallace, D. C. and Torroni, A. (1992). "American Indian prehistory as written in the mitochondrial DNA: a review." Human Biology 64:403-416.

Wallace, D. C., Yang, J., Ye, J., Lott, M. T., Oliver, N. A. and McCarthy, J. (1986). "Computer prediction of peptide maps: assignment of polypeptides to human and mouse mitochondrial DNA genes by analysis of two dimensional-proteolytic digest gels." American Journal of Human Genetics 38(4):461-481.

Wallace, D. C., Ye, J. H., Neckelmann, S. N., Singh, G., Webster, K. A. and Greenberg, B. D. (1987). "Sequence analysis of cDNAs for the human and bovine ATP synthase b-subunit: mitochondrial DNA genes sustain seventeen times more mutations." Current Genetics 12:81-90.

Wallace, D. C., Zheng, X., Lott, M. T., Shoffner, J. M., Hodge, J. A., Kelley, R. I., Epstein, C. M. and Hopkins, L. C. (1988). "Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease." Cell 55(4):601-610.

Wang, E., Wong, A. and Cortopassi, G. (1997). "The rate of mitochondrial mutagenesis is faster in mice than humans." Mutation Research 377(2):157-166.

Wang, H., Fliegel, L., Cass, C. E., Penn, A. M. W., Michalak, M., Weiner, J. H. and Lemire, B. D. (1994). "Quantification of mitochondrial DNA in heteroplasmic fibroblasts with competitive PCR." Biotechniques 17(1):76-78.

Wang, H., Hiatt, W. R., Barstow, T. J. and Brass, E. P. (1999). "Relationships between muscle mitochondrial DNA content, mitochondrial enzyme activity and oxidative capacity in man: alterations with disease." European Journal of Applied Physiology & Occupational Physiology 80(1):22-27.

Wang, H., Lemire, B. D., Cass, C. E., Weiner, J. H., Michalak, M., Singh, D. and Fliegel, L. (1997). "Interactions of a high mobility group-like protein with human mitochondrial DNA." Archives of Biochemistry & Biophysics 346(2):193-202.

Wang, H. and Oster, G. (1998). "Energy transduction in the F1 motor of ATP synthase." Nature 396(6708):279-282.

Wang, J., Wilhelmsson, H., Graff, C., Li, H., Oldfors, A., Rustin, P., Bruning, J. C., Kahn, C. R., Clayton, D. A., Barsh, G. S., Thoren, P. and Larsson, N. G. (1999). "Dilated cardiomyopathy and atrioventricular conduction blocks induced by heart-specific inactivation of mitochondrial DNA gene expression." Nature Genetics 21(1):133-137.

Wang, J. K., Morgan, J. I. and Spector, S. (1984). "Differentiation of Friend erythroleukemia cells induced by benzodiazepines." Proceedings of the National Academy of Sciences of the United States of America 81(12):3770-3772.

Wang, J. Y., Liang, B. and Watson, R. R. (1997). "Alcohol consumption alters cytokine release during murine AIDS." Alcohol 14(2):155-159.

Wang, Y., Huang, D. S., Eskelson, C. D. and Watson, R. R. (1994). "Long-term dietary vitamin E retards development of retrovirus-induced disregulation in cytokine production." Clinical Immunology and Immunopathology 72(1):70-75.

Wang, Y., Huang, D. S., Giger, P. T. and Watson, R. R. (1993). "Ethanol-induced modulation of cytokine production by splenocytes during murine retrovirus infection causing murine AIDS." Alcoholism: Clinical and Experimental Research 17(5):1035-1039.

Wang, Y., Liang, B. and Watson, R. R. (1994). "The effect of alcohol consumption on nutritional status during murine AIDS." Alcohol 11(3):273-278.

Wang, Y., Michikawa, Y., Mallidis, C., Bai, Y., Woodhouse, L., Yarasheski, K. E., Miller, C. A., Askanas, V., Engel, W. K., Bhasin, S. and Attardi, G. (2001). "Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication." Proceedings of the National Academy of Sciences of the United States of America 98(7):4022-4027.

Wang, Y. L., Choi, H. K., Aul, C., Gattermann, N. and Heinisch, J. (1999). "The MERRF mutation of mitochondrial DNA in the bone marrow of a patient with acquired idiopathic sideroblastic anemia [letter]." American Journal of Hematology 60(1):83-84.

Ward, R. H., Frazier, B. L., Dew-Jager, K. and Paabo, S. (1991). "Extensive mitochondrial diversity within a single Amerindian tribe." Proceedings of the National Academy of Sciences of the United States of America 88(19):8720-8724.

Ward, R. H., Redd, A., Valencia, D., Frazier, B. and Paabo, S. (1993). "Genetic and linguistic differentiation in the Americas." Proceedings of the National Academy of Sciences of the United States of America 90(22):10663-10667.

Ward, R. H., Salzano, F. M., Bonatto, S. L., Hutz, M. H., Coimbra, C. E. A. and Santos, R. V. (1996). "Mitochondrial DNA polymorphism in three Brazilian Indian tribes." American Journal of Human Biology 8(3):317-323.

Wardell, T. M., Ferguson, E., Chinnery, P. F., Borthwick, G. M., Taylor, R. W., Jackson, G., Craft, A., Lightowlers, R. N., Howell, N. and Turnbull, D. M. (2003). "Changes in the human mitochondrial genome after treatment of malignant disease." Mutation Research 525(1-2):19-27.

Watanabe, T., Dewey, M. J. and Mintz, B. (1978). "Teratocarcinoma cells as vehicles for introducing specific mutant mitochondrial genes into mice." Proceedings of the National Academy of Sciences of the United States of America 75(10):5113-5117.

Watkins, W. S., Bamshad, M., Dixon, M. E., Bhaskara Rao, B., Naidu, J. M., Reddy, P. G., Prasad, B. V., Das, P. K., Reddy, P. C., Gai, P. B., Bhanu, A., Kusuma, Y. S., Lum, J. K., Fischer, P. and Jorde, L. B. (1999). "Multiple origins of the mtDNA 9-bp deletion in populations of South India." American Journal of Physical Anthropology 109(2):147-158.

Watson, E., Bauer, K., Aman, R., Weiss, G., von Haeseler, A. and Paabo, S. (1996). "mtDNA sequence diversity in Africa [see comments]." American Journal of Human Genetics 59(2):437-444.

Watson, E., Forster, P., Richards, M. and Bandelt, H. J. (1997). "Mitochondrial footprints of human expansions in Africa." American Journal of Human Genetics 61(3):691-704.

Watson, R. R., Yahya, M. D., Darban, H. R. and Prabhala, R. H. (1988). "Enhanced survival by vitamin A supplementation during a retrovirus infection causing murine AIDS." Life Sciences 43(6):xiii-xviii.

Watt, S. M., Gilmore, D. J., Davis, J. M., Clark, M. R. and Waldmann, H. (1987). "Cell-surface markers on haemopoietic precursors. Reagents for the isolation and analysis of progenitor cell subpopulations." Molecular & Cellular Probes 1(4):297-326.

Watt, W. B. and Dean, A. M. (2000). "Molecular-functional studies of adaptive genetic variation in prokaryotes and eukaryotes." Annual Review of Genetics 34:593-622.

Weber, K., Wilson, J. N., Taylor, L., Brierley, E., Johnson, M. A., Turnbull, D. M. and Bindoff, L. A. (1997). "A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle." American Journal of Human Genetics 60(2):373-380.

Webster, C., Pavlath, G. K., Parks, D. R., Walsh, F. S. and Blau, H. M. (1988). "Isolation of human myoblasts with the fluorescence-activated cell sorter." Experimental Cell Research 174(1):252-265.

Webster, K. A., Gunning, P., Hardeman, E., Wallace, D. C. and Kedes, L. (1990). "Coordinate reciprocal trends in glycolytic and mitochondrial transcript accumulations during the in vitro differentiation of human myoblasts." Journal of Cellular Physiology 142(3):566-573.

Wei, Y. H. (1992). "Mitochondrial DNA alterations as ageing-associated molecular events." Mutation Research 275:145-155.

Wei, Y. H. (1998). "Mitochondrial DNA mutations and oxidative damage in aging and diseases: an emerging paradigm of gerontology and medicine." Proceedings of the National Science Council, Republic of China - Part B, Life Sciences 22(2):55-67.

Wei, Y. H. (1998). "Oxidative stress and mitochondrial DNA mutations in human aging." Proceedings of the Society for Experimental Biology & Medicine 217(1):53-63.

Weiner, N. C., Newman, N. J., Lessell, S., Johns, D. R., Lott, M. T. and Wallace, D. C. (1993). "Atypical Leber's hereditary optic neuropathy with molecular confirmation." Archives of Neurology 50(5):470-473.

Weishar, R., Bertuglia, S., Ashikawa, K., Sarma, J. S. M. and Bing, R. J. (1978). "Comparative effects of chronic ethanol and acetaldehyde exposure on myocardial function in rats." Journal of Clinical Pharmacology 18:377-387.

Weiss, G. and von Haeseler, A. (1998). "Inference of population history using a likelihood approach." Genetics 149(3):1539-1546.

Weiss, H., Friedrich, T., Hofhaus, G. and Preis, D. (1991). "The respiratory-chain NADH dehydrogenase (complex I) of mitochondria." European Journal of Biochemistry 197(3):563-576.

Weiss, H., Linke, P., Haiker, H. and Leonard, K. (1987). "Structure and function of the mitochondrial ubiquinol:cytochrome c reductase and NADH:ubiquinone reductase." Biochemical Society Transactions 15:100-102.

Weissman, B. A., Bolger, G. T. and Chiang, P. K. (1990). "Interactions between nitrogen oxide-containing compounds and peripheral benzodiazepine receptors." FEBS Letters 260(2):169-172.

Weissman, B. A., Cott, J., Paul, S. M. and Skolnick, P. (1983). "Ro 5-4864: a potent benzodiazepine convulsant." European Journal of Pharmacology 90(1):149-150.

Weizman, R., Laor, N., Karp, L., Dagan, E., Reiss, A., Dar, D. E., Wolmer, L. and Gavish, M. (1994). "Alteration of platelet benzodiazepine receptors by stress of war." American Journal of Psychiatry 151(5):766-767.

Weizman, R., Tanne, Z., Granek, M., Karp, L., Golomb, M., Tyano, S. and Gavish, M. (1987). "Peripheral benzodiazepine binding sites on platelet membranes are increased during diazepam treatment of anxious patients." European Journal of Pharmacology 138(2):289-292.

top of page

Welsh, N., Paabo, S. and Welsh, M. (1991). "Decreased mitochondrial gene expression in isolated islets of rats injected neonatally with streptozotocin." Diabetologia 34(9):626-631.

Westendorp, M. O., Shatrov, V. A., Schulze-Osthoff, K., Frank, R., Kraft, M., Los, M., Krammer, P. H., Droge, W. and Lehmann, V. (1995). "HIV-1 Tat potentiates TNF-induced NF-kappa B activation and cytotoxicity by altering the cellular redox state." EMBO Journal 14(3):546-554.

White, C. R., Brock, T. A., Chang, L. Y., Crapo, J., Briscoe, P., Ku, D., Bradley, W. A., Gianturco, S. H., Gore, J., Freeman, B. A. and Tarpey, M. M. (1994). "Superoxide and peroxynitrite in atherosclerosis." Proceedings of the National Academy of Sciences of the United States of America 91(3):1044-1048.

White, F. A. and Bunn, C. L. (1984). "Segregation of mitochondrial DNA in human somatic cell hybrids." Molecular and General Genetics 197(3):453-460.

White, S. L., Collins, V. R., Wolfe, R., Cleary, M. A., Shanske, S., DiMauro, S., Dahl, H. H. and Thorburn, D. R. (1999). "Genetic counseling and prenatal diagnosis for the mitochondrial DNA mutations at nucleotide 8993." American Journal of Human Genetics 65(2):474-482.

Whitfield, C. D., Bostedor, R., Goodrum, D., Haak, M. and Chu, E. H. (1981). "Hamster cell mutants unable to grow on galactose and exhibiting an overlapping complementation pattern are defective in the electron transport chain." Journal of Biological Chemistry 256(13):6651-6656.

Wickman, K., Nemec, J., Gendler, S. J. and Clapham, D. E. (1998). "Abnormal heart rate regulation in GIRK4 knockout mice." Neuron 20(1):103-114.

Widschwendter, M., Schrocksnadel, H. and Mortl, M. G. (1998). "Pre-eclampsia: a disorder of placental mitochondria?" Molecular Medicine Today 4(7):286-291.

Wiedemann, F. R., Winkler, K., Lins, H., Wallesch, C. W. and Kunz, W. S. (1999). "Detection of respiratory chain defects in cultivated skin fibroblasts and skeletal muscle of patients with Parkinson's disease." Annals of the New York Academy of Science 893:426-429.

Wigler, M. H. and Weinstein, I. B. (1975). "A preparative method for obtaining enucleated mammalian cells." Biochemical & Biophysical Research Communications 63(3):669-674.

Wijmenga, C., Deaven, L. and Frants, R. R. (1992). "Dinucleotide repeat polymorphism adjacent to the ANT1 gene on 4q35." Nucleic Acids Research 20(5):1161.

Wijmenga, C., Frants, R. R., Hewitt, J. E., van Deutekom, J. C., van Geel, M., Wright, T. J., Padberg, G. W., Hofker, M. H. and van Ommen, G. J. (1993). "Molecular genetics of facioscapulohumeral muscular dystrophy." Neuromuscular Disorders 3(5-6):487-491.

Wijmenga, C., Hewitt, J. E., Sandkuijl, L. A., Clark, L. N., Wright, T. J., Dauwerse, H. G., Gruter, A. M., Hofker, M. H., Moerer, P., Williamson, R., van Ommen, G.-J. B., Padberg, G. W. and Frants, R. R. (1992). "Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy." Nature Genetics 2(1):26-30.

Wijmenga, C., Winokur, S. T., Padberg, G. W., Skraastad, M. I., Altherr, M. R., Wasmuth, J. J., Murray, J. C., Hofker, M. H. and Frants, R. R. (1993). "The human skeletal muscle adenine nucleotide translocator gene maps to chromosome 4q35 in the region of the facioscapulohumeral muscular dystrophy locus." Human Genetics 92(2):198-203.

Wijmenga, C., Wright, T. J., Baan, M. J., Padberg, G. W., Williamson, R., van Ommen, G. J., Hewitt, J. E., Hofker, M. H. and Frants, R. R. (1993). "Physical mapping and YAC-cloning connects four genetically distinct 4qter loci (D4S163, D4S139, D4F35S1 and D4F104S1) in the FSHD gene-region." Human Molecular Genetics 2(10):1667-1672.

Wikstrom, M. (1998). "Proton translocation by bacteriorhodopsin and heme-copper oxidases." Current Opinion in Structural Biology 8(4):480-488.

Wikstrom, M. and Krab, K. (1986). "The semiquinone cycle. A hypothesis of electron transfer and proton translocation in cytochrome bc-type complexes." Journal of Bioenergetics and Biomembranes 18:181-193.

Wikstrom, M., Krab, K. and Saraste, M. (1981). "Proton-translocating cytochrome complexes." Annual Review of Biochemistry 50:623-655.

Wilichowski, E., Gruters, A., Kruse, K., Rating, D., Beetz, R., Korenke, G. C., Ernst, B. P., Christen, H. J. and Hanefeld, F. (1997). "Hypoparathyroidism and deafness associated with pleioplasmic large scale rearrangements of the mitochondrial DNA: a clinical and molecular genetic study of four children with Kearns-Sayre syndrome." Pediatric Research 41(2):193-200.

Wilichowski, E., Korenke, G. C., Ruitenbeek, W., De Meirleir, L., Hagendorff, A., Janssen, A. J., Lissens, W. and Hanefeld, F. (1998). "Pyruvate dehydrogenase complex deficiency and altered respiratory chain function in a patient with Kearns-Sayre/MELAS overlap syndrome and A3243G mtDNA mutation." Journal of the Neurological Sciences 157(2):206-213.

Wilkinson, G. S., Mayer, F., Kerth, G. and Petri, B. (1997). "Evolution of repeated sequence arrays in the D-loop region of bat mitochondrial DNA." Genetics 146(3):1035-1048.

Williams, M. D., Van Remmen, H., Conrad, C. C., Huang, T. T., Epstein, C. J. and Richardson, A. (1998). "Increased oxidative damage is correlated to altered mitochondrial function in heterozygous manganese superoxide dismutase knockout mice." Journal of Biological Chemistry 273(43):28510-28515.

Wilson, J. (1963). "Leber's herediatry optic atrofia - some clinical and etiological considerations." Brain 86:347-362.

Wilson, J. (1965). "Leber's hereditary optic atrofia: a possible defect of cyanide metabolism." Clinical Science 29(3):505-515.

Wilson, M. R., Polanskey, D., Butler, J., DiZinno, J. A., Replogle, J. and Budowle, B. (1995). "Extraction, PCR amplification and sequencing of mitochondrial DNA from human hair shafts." Biotechniques 18(4):662-669.

Wilson, R. B. and Roof, D. M. (1997). "Respiratory deficiency due to loss of mitochondrial DNA in yeast lacking the frataxin homologue." Nature Genetics 16(4):352-357.

Wilson, S. K. (1990). "Role of oxygen-derived free radicals in acute angiotensin II--induced hypertensive vascular disease in the rat." Circulation Research 66(3):722-734.

Wise, C. A., Sraml, M. and Easteal, S. (1998). "Departure from neutrality at the mitochondrial NADH dehydrogenase subunit 2 gene in humans, but not in chimpanzees." Genetics 148(1):409-421.

Wise, C. A., Sraml, M., Rubinsztein, D. C. and Easteal, S. (1997). "Comparative nuclear and mitochondrial genome diversity in humans and chimpanzees." Molecular Biology & Evolution 14(7):707-716.

Wissinger, B., Besch, D., Baumann, B., Fauser, S., Christ-Adler, M., Jurklies, B., Zrenner, E. and Leo-Kottler, B. (1997). "Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy." Biochemical & Biophysical Research Communications 234(2):511-515.

Wittwer, C. T., Herrmann, M. G., Moss, A. A. and Rasmussen, R. P. (1997). "Continuous fluorescence monitoring of rapid cycle DNA amplification." Biotechniques 22(1):130-131, 134-138.

Wolin, M. S., Cherry, P. D., Rodenburg, J. M., Messina, E. J. and Kaley, G. (1990). "Methylene blue inhibits vasodilation of skeletal muscle arterioles to acetilcolina and nitric oxide via the extracellular generation of superoxide anion." Journal of Pharmacology and Experimental Therapeutics 254(3):872-876.

Woller, J., Furedi, S. and Padar, Z. (1997). "[Use of polymerase chain reaction DNA studies in Hungarian legal practice]." Orvosi Hetilap 138(51):3223-3228.

Wolpoff, M. H. (1998). "Neandertals: not so fast [letter]." Science 282(5396):1991.

Wolvetang, E. J., Johnson, K. L., Krauer, K., Ralph, S. J. and Linnane, A. W. (1994). "Mitochondrial respiratory chain inhibitors induce apoptosis." FEBS Letters 339(1-2):40-44.

Wong, A. and Cortopassi, G. (1997). "mtDNA mutations confer cellular sensitivity to oxidant stress that is partially rescued by calcium depletion and cyclosporin A." Biochemical & Biophysical Research Communications 239(1):139-145.

Wong, L. J. and Lam, C. W. (1997). "Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA." Clinical Chemistry 43(7):1241-1243.

Wong, L. J. and Senadheera, D. (1997). "Direct detection of multiple point mutations in mitochondrial DNA." Clinical Chemistry 43(10):1857-1861.

Wong, T. W. and Clayton, D. A. (1986). "DNA primase of human mitochondria is associated with structural RNA that is essential for enzymatic activity." Cell 45:817-825.

Wong, Y. C., Tsao, S. W., Kakefuda, M. and Bernal, S. D. (1990). "cDNA cloning of a novel cell adhesion protein expressed in human squamous carcinoma cells." Biochemical and Biophysical Research Communications 166(2):984-992.

Wood, M. L., Dizdaroglu, M., Gajewski, E. and Essigmann, J. M. (1990). "Mechanistic studies of ionizing radiation and oxidative mutagenesis: genetic effects of a single 8-hydroxyguanine (7-hydro-8-oxoguanine) residue inserted at a unique site in a viral genome." Biochemistry 29(30):7024-7032.

Wright, G. and Reichenbecher, V. (1999). "The effects of superoxide and the peripheral benzodiazepine receptor ligands on the mitochondrial processing of manganese-dependent superoxide dismutase." Experimental Cell Research 246(2):443-450.

Wrischnik, L. A., Higuchi, R. G., Stoneking, M., Erlich, H. A., Arnheim, N. and Wilson, A. C. (1987). "Length mutations in human mitochondrial DNA: direct sequencing of enzymatically amplified DNA." Nucleic Acids Research 15:529-542.

X

top of page

Xiang, K., Wang, Y., Wu, S., Lu, H., Zheng, T., Sun, D., Weng, Q., Jia, W., Shen, W., Pu, L. and He, J. (1997). "Mitochondrial tRNA(Leu(UUR)) gene mutation diabetes mellitus in Chinese." Chinese Medical Journal 110(5):372-378.

Xiao, X., Li, J. and Samulski, R. J. (1998). "Production of high-titer recombinant adeno-associated virus vectors in the absence of helper adenovirus." Journal of Virology 72(3):2224-2232.

Xu, X. and Arnason, U. (1994). "The complete mitochondrial DNA sequence of the horse, Equus caballus: extensive heteroplasmy of the control region." Gene 148(2):357-362.

Y

top of page

Yaffe, M. P. (1999). "The machinery of mitochondrial inheritance and behavior." Science 283(5407):1493-1497.

Yamada, K., Mashima, Y., Kigasawa, K., Miyashita, K., Wakakura, M. and Oguchi, Y. (1997). "High incidence of visual recovery among four Japanese patients with Leber's hereditary optic neuropathy with the 14484 mutation." Journal of Neuro-Ophthalmology 17(2):103-107.

Yamaguchi, T., Yamada, Y., Ohtani, S., Kogure, T., Nagao, M., Takatori, T., Ohira, H., Yamamoto, I. and Watanabe, A. (1997). "[Two cases of personal identification from dental information]." Nippon Hoigaku Zasshi - Japanese Journal of Legal Medicine 51(4):324-330.

Yamakawa, H., Higashino, K. I. and Ohara, O. (1996). "Sequence-dependent DNA separation by anion-exchange high-performance liquid chromatography." Analytical Biochemistry 240(2):242-250.

Yamamoto, H., Tanaka, M., Katayama, M., Obayashi, T., Nimura, Y. and Ozawa, T. (1992). "Significant existence of deleted mitochondrial DNA in cirrhotic liver surrounding hepatic tumor." Biochemical and Biophysical Research Communications 182(2):913-920.

Yamamoto, T., Moerschell, R. P., Wakem, L. P., Ferguson, D. and Sherman, F. (1992). "Parameters affecting the frequencies of transformation and co- transformation with synthetic oligonucleotides in yeast." Yeast 8(11):935-948.

Yamaoka, L. H., Westbrook, C. A., Speer, M. C., Gilchrist, J. M., Jabs, E. W., Schweins, E. G., Stajich, J. M., Gaskell, P. C., Roses, A. D. and Pericak-Vance, M. A. (1994). "Development of a microsatellite genetic map spanning 5q31-q33 and subsequent placement of the LGMD1A locus between D5S178 and IL9." Neuromuscular Disorders 4(5-6):471-475.

Yan, L. J., Levine, R. L. and Sohal, R. S. (1997). "Oxidative damage during aging targets mitochondrial aconitase [published erratum appears in Proc Natl Acad Sci U S A 1998 Feb 17;95(4):1968]." Proceedings of the National Academy of Sciences of the United States of America 94(21):11168-11172.

Yan, L. J. and Sohal, R. S. (1998). "Mitochondrial adenine nucleotide translocase is modified oxidatively during aging." Proceedings of the National Academy of Sciences of the United States of America 95(22):12896-12901.

Yan, W. L., Lerner, T. J., Haines, J. L. and Gusella, J. F. (1994). "Sequence analysis and mapping of a novel human mitochondrial ATP synthase subunit 9 cDNA (ATP5G3)." Genomics 24(2):375-377.

Yanagawa, T., Sakaguchi, H., Nakao, T., Sasaki, H., Matsumoto, G., Sanke, T. and Nanjo, K. (1998). "Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes with deterioration during pregnancy." Internal Medicine 37(9):780-783.

Yang, C. C., Hwang, C. C., Pang, C. Y. and Wei, Y. H. (1998). "Mitochondrial myopathy with predominant respiratory dysfunction in a patient with A3243G mutation in the mitochondrial tRNA(Leu(UUR))gene." Journal of the Formosan Medical Association 97(10):715-719.

Yang, G., Chan, P. H., Chen, J., Carlson, E., Chen, S. F., Weinstein, P., Epstein, C. J. and Kamii, H. (1994). "Human copper-zinc superoxide dismutase transgenic mice are highly resistant to reperfusion injury after focal cerebral ischemia." Stroke 25(1):165-170.

Yang, J., Liu, X., Bhalla, K., Kim, C. N., Ibrado, A. M., Cai, J., Peng, T. I., Jones, D. P. and Wang, X. (1997). "Prevention of apoptosis by Bcl-2: release of cytochrome c from mitochondria blocked [see comments]." Science 275(5303):1129-1132.

Yang, J. H., Lee, H. C., Lin, K. J. and Wei, Y. H. (1994). "A specific 4977-bp deletion of mitochondrial DNA in human ageing skin." Archives of Dermatological Research 286(7):386-390.

Yang, Z. and Wang, T. (1995). "Mixed model analysis of DNA sequence evolution." Biometrics 51(2):552-561.

Yao, Y. G., Kong, Q. P., Bandelt, H. J., Kivisild, T. and Zhang, Y. P. (2002). "Phylogeographic differentiation of mitochondrial DNA in Han Chinese." American Journal of Human Genetics 70(3):635-651.

Yao, Y. G., Macaulay, V., Kivisild, T., Zhang, Y. P. and Bandelt, H. J. (2003). "To trust or not to trust an idiosyncratic mitochondrial data set." American Journal of Human Genetics 72(5):1341-1346, 1348-1349; author reply 1346-1348.

Yasukawa, T., Suzuki, T., Ishii, N., Ohta, S. and Watanabe, K. (2001). "Wobble modification defect in tRNA disturbs codon-anticodon interaction in a mitochondrial disease." EMBO Journal 20(17):4794-4802.

Yasukawa, T., Suzuki, T., Ishii, N., Ueda, T., Ohta, S. and Watanabe, K. (2000). "Defect in modification at the anticodon wobble nucleotide of mitochondrial tRNA(Lys) with the MERRF encephalomyopathy pathogenic mutation." FEBS Letters 467(2-3):175-178.

Yasukawa, T., Suzuki, T., Ueda, T., Ohta, S. and Watanabe, K. (2000). "Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes." Journal of Biological Chemistry 275(6):4251-4257.

Yates, J., Warren, N., Reisman, D. and Sugden, B. (1984). "A cis-acting element from the Epstein-Barr viral genome that permits stable replication of recombinant plasmids in latently infected cells." Proceedings of the National Academy of Sciences of the United States of America 81(12):3806-3810.

Yates, J. L., Warren, N. and Sugden, B. (1985). "Stable replication of plasmids derived from Epstein-Barr virus in various mammalian cells." Nature 313(6005):812-815.

Yen, H. C., Oberley, T. D., Vichitbandha, S., Ho, Y. S. and St Clair, D. K. (1996). "The protective role of manganese superoxide dismutase against adriamycin-induced acute cardiac toxicity in transgenic mice [published erratum appears in J Clin Invest 1997 Mar 1;99(5):1141]." Journal of Clinical Investigation 98(5):1253-1260.

Yen, M. Y., Lee, H. C., Wang, A. G., Chang, W. L., Liu, J. H. and Wei, Y. H. (1999). "Exclusive homoplasmic 11778 mutation in mitochondrial DNA of Chinese patients with Leber's hereditary optic neuropathy." Japanese Journal of Ophthalmology 43(3):196-200.

Yen, M. Y., Lee, J. F., Liu, J. H. and Wei, Y. H. (1998). "Energy charge is not decreased in lymphocytes of patients with Leber's hereditary optic neuropathy with the 11,778 mutation." Journal of Neuro-Ophthalmology 18(2):84-85.

Yen, M.-Y., Liu, J.-H., Pang, C.-Y. and Wei, Y.-H. (1993). "Molecular diagnosis of Leber's hereditary optic neuropathy." Journal of the Formosan Medical Association 92:42-45.

Yen, T. C., Chen, Y. S., King, K. L., Yeh, S. H. and Wei, Y. H. (1989). "Liver mitochondrial respiratory functions decline with age." Biochemical and Biophysical Research Communications 165:944-1003.

Yen, T. C., King, K. L., Lee, H. C., Yeh, S. H. and Wei, Y. H. (1994). "Age-dependent increase of mitochondrial DNA deletions together with lipid peroxides and superoxide dismutase in human liver mitochondria." Free Radical Biology and Medicine 16(2):207-214.

Yen, T. C., Pang, C. Y., Hsieh, R. H., Su, C. H., King, K. L. and Wei, Y. H. (1992). "Age-dependent 6kb deletion in human liver mitochondrial DNA." Biochemistry International 26:457-468.

Yokobori, S., Suzuki, T. and Watanabe, K. (2001). "Genetic code variations in mitochondria: tRNA as a major determinant of genetic code plasticity." Journal of Molecular Evolution 53(4-5):314-326.

Yoneda, M., Chomyn, A., Martinuzzi, A., Hurko, O. and Attardi, G. (1992). "Marked replicative advantage of human mtDNA carrying a point mutation that causes the MELAS encephalomyopathy." Proceedings of the National Academy of Sciences of the United States of America 89(23):11164-11168.

Yoneda, M., Katsumata, K., Hayakawa, M., Tanaka, M. and Ozawa, T. (1995). "Oxygen stress induces an apoptotic cell death associated with fragmentation of mitochondrial genome." Biochemical and Biophysical Research Communications 209:723-729.

Yoneda, M., Miyatake, T. and Attardi, G. (1995). "Heteroplasmic mitochondrial tRNALys mutation and its complementation in MERRF patient-derived mitochondrial transformants." Muscle and Nerve 3(101):S95-101.

Yoneda, M., Miyatake, T. and G., A. (1994). "Complementation of mutant and wild-type human mitochondrial DNAs coexisting since the mutation event and lack of complementation of DNAs introduced separately into a cell within distinct organelles." Molecular and Cellular Biology 14(4):2699-2712.

Yoneda, M., Tanno, Y., Horai, S., Ozawa, T., Miyatake, T. and Tsuji, S. (1990). "A common mitochondrial DNA mutation in the tRNALys of patients with myoclonus epilepsy associated with ragged-red fibers." Biochemistry International 21(5):789-796.

Yoneda, M., Tsuji, S., Yamauchi, T., Inuzuka, T., Miyatake, T., Horai, S. and Ozawa, T. (1989). "Mitochondrial DNA mutation in family with Leber's hereditary optic neuropathy." Lancet 1(8646):1076-1077.

Yoon, K. L., Aprille, J. R. and Ernst, S. G. (1991). "Mitochondrial tRNAThr mutation in fatal infantile respiratory enzyme deficiency." Biochemical and Biophysical Research Communications 176(3):1112-1115.

Yoon, K. L., Ernst, S. G., Rasmussen, C., Dooling, E. C. and Aprille, J. R. (1993). "Mitochondrial disorder associated with newborn cardiopulmonary arrest." Pediatric Research 33(5):433-440.

Yoshinaga, H., Ogino, T., Ohtahara, S., Sakuta, R., Nonaka, I. and Horai, S. (1993). "A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome." Journal of Child Neurology 8:129-133.

Yoshino, H., Nakagawa-Hattori, Y., Kondo, T. and Mizuno, Y. (1992). "Mitochondrial complex I and II activities of lymphocytes and platelets in Parkinson's disease." Journal of Neural Transmission - Parkinsons Disease & Dementia Section 2(1):27-34.

Yowe, D. L. and Ames, B. N. (1998). "Quantitation of age-related mitochondrial DNA deletions in rat tissues shows that their pattern of accumulation differs from that of humans." Gene 209(1-2):23-30.

Yoza, B. K. and Bogenhagen, D. F. (1984). "Identification and in vitro capping of a primary transcript of human mitochondrial DNA." Journal of Biological Chemistry 259:3909-3915.

Yuzaki, M., Ohkoshi, N., Kanazawa, I., Kagawa, Y. and Ohta, S. (1989). "Multiple deletions in mitochondrial DNA at direct repeats of non-D-loop regions in cases of familial mitochondrial myopathy." Biochemical and Biophysical Research Communications 164:1352-1357.

Z

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Zambrowicz, B. P., Imamoto, A., Fiering, S., Herzenberg, L. A., Kerr, W. G. and Soriano, P. (1997). "Disruption of overlapping transcripts in the ROSA beta geo 26 gene trap strain leads to widespread expression of beta-galactosidase in mouse embryos and hematopoietic cells." Proceedings of the National Academy of Sciences of the United States of America 94(8):3789-3794.

Zanssen, S., Molnar, M., Buse, G. and Schroder, J. M. (1998). "Mitochondrial cytochrome b gene deletion in Kearns-Sayre syndrome associated with a subclinical type of peripheral neuropathy." Clinical Neuropathology 17(6):291-296.

Zanssen, S., Molnar, M., Schroder, J. M. and Buse, G. (1997). "Multiple mitochondrial tRNA(Leu[UUR]) mutations associated with infantile myopathy." Molecular & Cellular Biochemistry 174(1-2):231-236.

Zardoya, R. and Meyer, A. (1997). "The complete DNA sequence of the mitochondrial genome of a 'living fossil,' the coelacanth (Latimeria chalumnae)." Genetics 146(3):995-1010.

Zarrilli, R., Oates, E. L., McBride, O. W., Lerman, M. I., Chan, J. Y., Santisteban, P., Ursini, M. V., Notkins, A. L. and Kohn, L. D. (1989). "Sequence and chromosomal assignment of a novel cDNA identified by immunoscreening of a thyroid expression library: similarity to a family of mitochondrial solute carrier proteins." Molecular Endricrinology 3(9):1498-1505.

Zavala, F., Taupin, V. and Descamps-Latscha, B. (1990). "In vivo treatment with benzodiazepines inhibits murine phagocyte oxidative metabolism and production of interleukin 1, tumor necrosis factor and interleukin-6." Journal of Pharmacology and Experimental Therapeutics 255(2):442-450.

Zbinden, G. and Randall, L. O. (1967). "Pharmacology of benzodiazepines: laboratory and clinical correlations." Advances in Pharmacology 5:213-291.

Zeviani, M., Amati, P., Bresolin, N., Antozzi, C., Piccolo, G., Toscano, A. and DiDonato, S. (1991). "Rapid detection of the A-G (8344) mutation of mtDNA in Italian families with myoclonus epilepsy and ragged-red fibers (MERRF)." American Journal of Human Genetics 48(2):203-211.

Zeviani, M., Amati, P., Comi, G., Fratta, G., Mariotti, C. and Tiranti, V. (1995). "Searching for genes affecting the structural integrity of the mitochondrial genome." Biochimica et Biophysica Acta 1271(1):153-158.

Zeviani, M. and Antozzi, C. (1997). "Mitochondrial disorders." Molecular Human Reproduction 3(2):133-148.

Zeviani, M., Bresolin, N., Gellera, C., Bordoni, A., Pannacci, M., Amati, P., Moggio, M., Servidei, S., Scarlato, G. and DiDonato, S. (1990). "Nucleus-driven multiple large-scale deletions of the human mitochondrial genome: a new autosomal dominant disease." American Journal of Human Genetics 47:904-914.

Zeviani, M., Fernandez-Silva, P. and Tiranti, V. (1997). "Disorders of mitochondria and related metabolism." Current Opinion in Neurology 10(2):160-167.

Zeviani, M., Gellera, C., Antozzi, C., Rimoldi, M., Morandi, L., Villani, F., Tiranti, V. and DiDonato, S. (1991). "Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)." Lancet 338:143-147.

Zeviani, M., Moraes, C. T., DiMauro, S., Nakase, H., Bonilla, E., Nakase, H., Bonilla, E., Schon, E. A. and Rowland, L. P. (1988). "Deletions of mitochondrial DNA in Kearns-Sayre syndrome." Neurology 38:1339-1346.

Zeviani, M., Muntoni, F., Savarese, N., Serra, G., Tiranti, V., Carrara, F., Mariotti, C. and DiDonato, S. (1993). "A MERRF/MELAS overlap syndrome associated with a new point mutation in the mitochondrial DNA tRNALys gene." European Journal of Human Genetics 1:80-87.

Zeviani, M., Nakagawa, M., Herbert, J., Lomax, M. I., Grossman, L. I., Sherbany, A. A., Miranda, A. F., DiMauro, S. and Schon, E. A. (1987). "Isolation of a cDNA clone encoding subunit IV of human cytochrome c oxidase." Gene 55(2-3):205-217.

Zeviani, M., Sakoda, S., Sherbany, A. A., Nakase, H., Rizzuto, R., Samitt, C. E., DiMauro, S. and Schon, E. A. (1988). "Sequence of cDNAs encoding subunit Vb of human and bovine cytochrome c oxidase." Gene 65(1):1-11.

Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S. and DiDonato, S. (1989). "An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region." Nature 339(6222):309-311.

Zeviani, M., Tiranti, V. and Piantadosi, C. (1998). "Mitochondrial disorders." Medicine 77(1):59-72.

Zhang, J., Asin-Cayuela, J., Fish, J., Michikawa, Y., Bonafe, M., Olivieri, F., Passarino, G., De Benedictis, G., Franceschi, C. and Attardi, G. (2003). "Strikingly higher frequency in centenarians and twins of mtDNA mutation causing remodeling of replication origin in leukocytes." Proceedings of the National Academy of Sciences of the United States of America 100(3):1116-1121.

Zhang, C., Baumer, A., Mackay, I. R., Linnane, A. W. and Nagley, P. (1995). "Unusual pattern of mitochondrial DNA deletions in skeletal muscle of an adult human with chronic fatigue syndrome." Human Molecular Genetics 4(4):751-754.

Zhang, C., Baumer, A., Maxwell, R. J., Linnane, A. W. and Nagley, P. (1992). "Multiple mitochondrial DNA deletions in an elderly human individual." FEBS Letters 297:4-8.

Zhang, C., Lee, A., Liu, V. W., Pepe, S., Rosenfeldt, F. and Nagley, P. (1999). "Mitochondrial DNA deletions in human cardiac tissue show a gross mosaic distribution." Biochemical & Biophysical Research Communications 254(1):152-157.

Zhang, C., Linnane, A. W. and Nagley, P. (1993). "Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans." Biochemical and Biophysical Research Communications 195(2):1104-1110.

Zhang, C., Liu, V. W., Addessi, C. L., Sheffield, D. A., Linnane, A. W. and Nagley, P. (1998). "Differential occurrence of mutations in mitochondrial DNA of human skeletal muscle during aging [published erratum appears in Hum Mutat 1998;12(1):69]." Human Mutation 11(5):360-371.

Zhang, C., Liu, V. W. and Nagley, P. (1997). "Gross mosaic pattern of mitochondrial DNA deletions in skeletal muscle tissues of an individual adult human subject." Biochemical & Biophysical Research Communications 233(1):56-60.

Zhang, D., Mott, J. L., Chang, S. W., Denniger, G., Feng, Z. and Zassenhaus, H. P. (2000). "Construction of transgenic mice with tissue-specific acceleration of mitochondrial DNA mutagenesis." Genomics 69(2):151-161.

Zhang, J., Yoneda, M., Naruse, K., Borgeld, H. J., Gong, J. S., Obata, S., Tanaka, M. and Yagi, K. (1998). "Peroxide production and apoptosis in cultured cells carrying mtDNA mutation causing encephalomyopathy." Biochemistry & Molecular Biology International 46(1):71-79.

Zheng, X. X., Shoffner, J. M., Voljavec, A. S. and Wallace, D. C. (1990). "Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies." Biochimica et Biophysica Acta 1019(1):1-10.

Zhou, L., Chomyn, A., Attardi, G. and Miller, C. A. (1997). "Myoclonic epilepsy and ragged red fibers (MERRF) syndrome: selective vulnerability of CNS neurons does not correlate with the level of mitochondrial tRNAlys mutation in individual neuronal isolates." Journal of Neuroscience 17(20):7746-7753.

Zhu, D., Economou, E. P., Antonarakis, S. E. and Maumenee, I. H. (1992). "Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy." American Journal of Medical Genetics 42(2):173-179.

Zhu, L., Ling, S., Yu, X.-D., Venkatesh, L. K., Subramanian, T., Chinnadurai, G. and Kuo, T. H. (1999). "Modulation of mitochondrial Ca2+ homeostasis by Bcl-2." Journal of Biological Chemistry 274(47):33267-33273.

Zhu, Z., Yao, J., Johns, T., Fu, K., De Bie, I., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., Brown, G. K., Brown, R. M. and Shoubridge, E. A. (1998). "SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome." Nature Genetics 20(4):337-343.

Zhuchenko, O., Wehnert, M., Bailey, J., Sun, Z. S. and Lee, C. C. (1996). "Isolation, mapping, and genomic structure of an X-linked gene for a subunit of human mitochondrial complex I." Genomics 37(3):281-288.

Zhuo, S., Paik, S. R., Register, J. A. and Allison, W. S. (1993). "Photoinactivation of the bovine heart mitochondrial F1-ATPase by [14C]dequalinium cross-links phenylalanine-403 or phenylalanine-406 of an alpha subunit to a site or sites contained within residues 440-459 of a beta subunit." Biochemistry 32(9):2219-2227.

Zickermann, V., Barquera, B., Wikstrom, M. and Finel, M. (1998). "Analysis of the pathogenic human mitochondrial mutation ND1/3460, and mutations of strictly conserved residues in its vicinity, using the bacterium Paracoccus denitrificans." Biochemistry 37(34):11792-11796.

Ziegler, M. L. and Davidson, R. L. (1981). "Elimination of mitochondrial elements and improved viability in hybrid cells." Somatic Cell Genetics 7(1):73-88.

Zietkiewicz, E., Yotova, V., Gehl, D., Wambach, T., Arrieta, I., Batzer, M., Cole, D. E., Hechtman, P., Kaplan, F., Modiano, D., Moisan, J. P., Michalski, R. and Labuda, D. (2003). "Haplotypes in the dystrophin DNA segment point to a mosaic origin of modern human diversity." American Journal of Human Genetics 73(6):994-1015.

Zischler, H., Geisert, H., von Haeseler, A. and Paabo, S. (1995). "A nuclear 'fossil' of the mitochondrial D-loop and the origin of modern humans." Nature 378(6556):489-492.

Zoossmann-Diskin, A., Ticher, A., Hakim, I., Goldwitch, Z., Rubinstein, A. and Bonne-Tamir, B. (1991). "Genetic affinities of Ethiopian Jews." Israel Journal of Medical Sciences 27:245-251.

Zoratti, M. and Szabo, I. (1995). "The mitochondrial permeability transition." Biochimica et Biophysica Acta 1241(2):139-176.

Zsurka, G., Ormos, J., Ivanyi, B., Turi, S., Endreffy, E., Magyari, M., Sonkodi, S. and Venetianer, P. (1997). "Mitochondrial mutation as a probable causative factor in familial progressive tubulointerstitial nephritis." Human Genetics 99(4):484-487.

Zuckerman, S. H., Solus, J. F., Gillespie, F. P. and Eisenstadt, J. M. (1984). "Retention of both parental mitochondrial DNA species in mouse-Chinese hamster somatic cell hybrids." Somatic Cell and Molecular Genetics 1984(1):85-91.

Zullo, S. J., Cerritos, A. and Merril, C. R. (1999). "Possible relationship between conditions associated with chronic hypoxia and brain mitochondrial DNA deletions; reduction of genomic 8-hydroxyguanine levels in human brain tissues containing elevated levels of the human mitochondrial DNA4977 deletion." Archives of Biochemistry & Biophysics 367(1):140-142.

Zupanc, M. L., Moraes, C. T., Shanske, S., Langman, C. B., Ciafaloni, E. and DiMauro, S. (1991). "Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes." Annals of Neurology 29:680-683.

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