References cited in The Report of the Committee on the Human Mitochondrial Genome
1. 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.
2. 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 156:683-717.
3. Arnheim, N. and Cortopassi, G. 1992. "Deleterious mitochondrial DNA mutations accumulate in aging human tissues.". Mutation Research 275:157-167.
4. Attardi, G., Chomyn, A., Montoya, J., and Ojala, D. 1982. "Identification and mapping of human mitochondrial genes.". Cytogenetics and Cell Genetics 32:85-98.
5. Attardi, G. and Montoya, J. 1983. "Analysis of human mitochondrial RNA.". Methods in Enzymology 97:435-469.
6. 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.
7. 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.
8. Barrell, B.G., Bankier, A.T., and Drouin, J. 1979. "A different genetic code in human mitochondria.". Nature 282:189-194.
9. Benecke, R., Strumper, P., and Weiss, H. 1992. "Electron transfer complex I defect in idiopathic dystonia.". Annals of Neurology 32:683-686.
10. 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 116:1451-1463.
11. 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 123:598-602.
12. 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 26:167-180.
13. 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.". Lancet 1:49.
14. 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 268:19559-19564.
15. 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 9:5785-5795.
16. 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 53:663-669.
17. 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.
18. 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.
19. 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.
20. 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.
21. 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 7:228-231.
22. 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.
23. 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.
24. Brown, M.D. and Wallace, D.C. 1994. "Molecular basis of mitochondrial DNA disease.". Journal of Bioenergetics and Biomembranes 26(3):273-289.
25. Brown, M.D. and Wallace, D.C. 1994. Spectrum of mitochondrial DNA mutations in Leber's hereditary optic neuropathy., in Clinical Neuroscience. p. 138-145.
26. 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.
27. 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.
28. Cann, R.L., Stoneking, M., and Wilson, A.C. 1987. "Mitochondrial DNA and human evolution.". Nature 325:31-36.
29. 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.
30. 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.
31. Chang, D.D. and Clayton, D.A. 1987. "A mammalian mitochondrial RNA processing activity contains nucleus-encoded RNA.". Science 235(4793):1178-1184.
32. 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.
33. 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.
34. 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.
35. 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.
36. 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.
37. 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.
38. 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.
39. 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.
40. 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.
41. 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.
42. 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.
43. 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.
44. 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.
45. 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.
46. 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.
47. Cortopassi, G. and Arnheim, N. 1992. Accumulation of mitochondrial DNA mutation in normal aging brain and muscle. In Mitochondrial DNA in Human Pathology. DiMauro, S. and Wallace, D.C., Editors. Raven Press:N.Y. p. 125-136.
48. 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.
49. 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.
50. 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.
51. 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.
52. 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.
53. 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.
54. DiMauro, S. 1993. "Mitochondrial involvement in Parkinson's disease: the controversy continues [editorial comment].". Neurology 43(11):2170-2172.
55. 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.
56. 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.
57. Esteal, S. 1991. The relative rate of DNA evolution in primates, in Molecular Biology and Evolution. p. 115-27.
58. 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.
59. 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.
60. 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.
61. 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.
62. 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.
63. 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.
64. 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.
65. 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.
66. 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.
67. 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.
68. Goto, Y. 1995. "Clinical features of MELAS and mitochondrial DNA mutations.". Muscle and Nerve 3(12):S107-S112.
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.
70. 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.
71. 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.
72. 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.
73. 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.
74. 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.
75. 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.
76. 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.
77. 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.
78. 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.
79. 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.
80. 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.
81. 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.
82. 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.
83. 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.
84. 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.
85. 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.
86. 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.
87. Ikeda, S., Sumiyoshi, H., and Oda, T. 1994. "DNA binding properties of recombinant human mitochondrial transcription factor 1.". Cellular and Molecular Biology 40(4):489-93.
88. 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.
89. 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.
90. 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.
91. 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.
92. Johnston, W., Karpati, G., Carpenter, S., Arnold, D., and Shoubridge, E.A. 1995. "Late-onset mitochondrial myopathy.". Annals of Neurology 37(1):16-23.
93. 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.
94. 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.
95. 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.
96. 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.
97. 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.
98. 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.
99. 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.
100. 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.
101. 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.
102. 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.
103. 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.
104. Lestienne, P. and Ponsot, G. 1988. "Kearns-Sayre syndrome with muscle mitochondrial DNA deletion [letter].". Lancet 1(8590):885.
105. 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.
106. 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.
107. 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.
108. 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.
109. 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.
110. 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.
111. 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.
112. 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.
113. 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.
114. 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 92:101-102.
115. 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.
116. 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.
117. 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 48:39-42.
118. 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.
119. 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.
120. Milatovich, A., Parisi, M.A., Poulton, J., Clayton, D.A., and Francke, U. 1991. "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 86:9509-9513.
122. 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 19:28-35.
123. 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.
124. 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.
125. Montoya, J., Ojala, D., and Attardi, G. 1981. "Distinctive features of the 5'-terminal sequences of the human mitochondrial mRNAs.". Nature 290:465-470.
126. 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.
127. Moraes, C.T., DiMauro, S., Zeviani, M., Lombes, A., Shanske, S., Miranda, A.F., Nakase, H., Bonilla, E., Werneck, L.C., Servidei, S., Nonaka, I., Koga, Y., Spiro, A.J., Brownell, K.W., Schmidt, B., Schotland, D.L., Zupanc, M., DeVivo, D.C., Schon, E.A., and Rowland, L.P. 1989. "Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.". New England Journal of Medicine 320:1293-1299.
128. 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.
129. 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 48:492-501.
130. 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.
131. 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.
132. 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.
133. 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.
134. 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 317:27-30.
135. 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.
136. 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. DiMauro, S. and Wallace, D.C., Editors. Raven Press:N.Y. p. 137-157.
137. 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.
138. 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.
139. 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.
140. 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.
141. 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 111:750762.
142. Noer, A.S., Sudoya, H., Lertrit, P., Thyagarajan, D., Utthanaphol, P., Kapsa, R., Byrne, E., and Marzuki, S. 1991. "A tRNALys mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.". American Journal of Human Genetics 49:715-722.
143. 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.
144. 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.
145. Ojala, D., Montoya, J., and Attardi, G. 1981. "tRNA punctuation model of RNA processing in human mitochondria.". Nature 290:470-474.
146. Oldfors, A., Larsson, N.G., Lindberg, C., and Holme, E. 1993. "Mitochondrial DNA deletions in inclusion body myositis.". Brain 116:325-336.
147. 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.
148. Oostra, R.J., Van Galen, M.J., Bolhuis, P.A., Bleeker-Wagemakers, E.M., and Van den Bogert, C. 1995. "The mitochondrial DNA mutation ND614484C 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.
149. 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 113:561-566.
150. 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.
151. 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.
152. 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.
153. 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.
154. 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.
155. 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.
156. 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.
157. 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.
158. 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.
159. Parker, W.D., Jr., Filley, C.M., and Parks, J.K. 1990. "Cytochrome oxidase deficiency in Alzheimer's disease.". Neurology 40:1302-1303.
160. 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.
161. 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.
162. 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.
163. 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.
164. 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.
165. Poulton, J. and Holt, I. 1994. "Mitochondrial DNA: does more lead to less?". Nature Genetics 8:313-315.
166. 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):S154-8.
167. 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.
168. 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.
169. 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 4:289-294.
170. 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 240:377-380.
171. 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.
172. 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.
173. 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.
174. 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), in Methods in Molecular and Cellular Biology. p. 121-127.
175. 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.
176. 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.
177. 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.
178. 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.
179. Rowland, L.P. 1983. "Molecular genetics, pseudogenetics, and clinical neurology.". Neurology 33(9):1179-1195.
180. 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 8:74-82.
181. 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.
182. 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.
183. 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.
184. 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.
185. 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.
186. 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.
187. Schapira, A.H.V. 1992. Mitochondrial abnormalities in neurodegeneration and normal aging. In Mitochondrial DNA in Human Pathology. DiMauro, S. and Wallace, D.C., Editors. Raven Press:N.Y. p. 159-172.
188. Schapira, A.H.V. 1994. "Evidence for mitochondria dysfunction in Parkinson's disease--a critical appraisal.". Movement Disorders 9:125-138.
189. Schon, E.A., Hirano, M., and DiMauro, S. 1994. Mitochondrial encephalomyopathies: clinical and molecular analysis, in Journal of Bioenergetics and Biomembranes. p. 291-299.
190. 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 105:217-224.
191. 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.
192. 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.
193. 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.
194. 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 42:2168-2174.
195. Shoffner, J.M., Krawiecki, N., Cabell, M.F., Torroni, A., and Wallace, D.C. 1993. A novel tRNALeu(UUR) mutation in childhood mitochondrial myopathy, in American Journal of Human Genetics. p. #949.
196. 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.
197. 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) 147:431-435.
198. Shoffner, J.M. and Wallace, D.C. 1995. Oxidative phosphorylation diseases. In The Metabolic and Molecular Basis of Inherited Disease. Scriver, C.R., Beaudet, A.L., Sly, W.S., and Valle, D., Editors. McGraw-Hill:New York. p. 1535-1609.
199. 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.
200. Shoubridge, E.A. 1992. Molecular histology of mitochondrial diseases. In Mitochondrial DNA in Human Pathology. DiMauro, S. and Wallace, D.C., Editors. Raven Press:N.Y. p. 109-123.
201. 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.
202. 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 1180:113-122.
203. 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.
204. Singh, G., Neckelmann, N., and Wallace, D.C. 1987. "Conformational mutations in human mitochondrial DNA.". Nature 329:270-272.
205. 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.
206. 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.
207. 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.
208. 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.
209. 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.
210. 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.
211. 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 50:852-858.
212. 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.
213. 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.
214. 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.
215. 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 42:209-217.
216. Trounce, I., Byrne, E., and Marzuki, S. 1989. "Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing.". Lancet 1:637-639.
217. 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.
218. 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.
219. 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.
220. 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.
221. 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.
222. 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.
223. 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.
224. Wallace, D.C. 1982. Cytoplasmic inheritance of chloramphenicol resistance in mammalian cells. In Techniques in Somatic Cell Genetics.12. Shay, J.W., Editor. Plenum Press:New York. p. 159-187.
225. Wallace, D.C. 1982. "Structure and evolution of organelle genomes.". Microbiological Reviews 46:208-240.
226. Wallace, D.C. 1983. Structure and evolution of organelle DNAs. In Endocytobiology II. Intracellular Space as Oligogenetic Ecosystem. Schenk, H. and W., S., Editors. deGruyter:N.Y. p. 87-100.
227. Wallace, D.C. 1992. "Diseases of the mitochondrial DNA.". Annual Review of Biochemistry 61:1175-1212.
228. Wallace, D.C. 1992. "Mitochondrial genetics: a paradigm for aging and degenerative diseases?". Science 256:628-632.
229. Wallace, D.C. 1993. "Mitochondrial diseases: genotype versus phenotype.". Trends in Genetics 9(4):128-133.
230. 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.
231. 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. Rimoin, D.L., Connor, J.M., Pyeritz, R.E., and Emery, A.E.H., Editors. Churchill Livingstone:London. p. 277-332.
232. 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.
233. Wallace, D.C. and Lott, M.T. 1992. Maternally inherited diseases. In Mitochondrial DNA in Human Pathology. DiMauro, S. and Wallace, D.C., Editors. Raven Press:N.Y. p. 63-83.
234. 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.
235. 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.
236. 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 242:1427-1430.
237. 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.
238. 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.
239. 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 55:601-610.
240. Wei, Y.H. 1992. "Mitochondrial DNA alterations as ageing-associated molecular events.". Mutation Research 275:145-155.
241. 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.
242. 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.
243. 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.
244. 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.
245. 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.
246. 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.
247. 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.
248. 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.
249. 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.
250. 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.
Ritorno a Fonama.org Home Page