Mitochondrial Diseases in Man and Mouse

Mitochondria and Apoptosis

Green, D. R., & Reed, J. C. (1998) · Science · doi:10.1126/science.281.5381.1309 · Cited by 9,051

Oxidants, antioxidants, and the degenerative diseases of aging.

Ames, B. N., Shigenaga, M. K., & Hagen, T. M. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.17.7915 · Cited by 5,958

Induction of Apoptotic Program in Cell-Free Extracts: Requirement for dATP and Cytochrome c

Liu, X., Kim, C. N., Yang, J., Jemmerson, R., & Wang, X. (1996) · Cell · doi:10.1016/s0092-8674(00)80085-9 · Cited by 5,167

Molecular characterization of mitochondrial apoptosis-inducing factor

Susin, S. A., Lorenzo, H. K., Zamzami, N., Marzo, I., Snow, B. E., Brothers, G. M., Mangion, J., Jacotot, E., Costantini, P., Loeffler, M., et al. (1999) · Nature · doi:10.1038/17135 · Cited by 4,060

Mitochondrial DNA mutation associated with Leber’s hereditary optic neuropathy

Wallace, D. C., Singh, G., Lott, M. T., Hodge, J. A., Schurr, T. G., Lezza, A. M. S., Elsas, L. J., & Nikoskelainen, E. K. (1988) · Science · doi:10.1126/science.3201231 · Cited by 2,440

The mitochondrial permeability transition

Zoratti, M., & Szabó, I. (1995) · Biochimica et Biophysica Acta (BBA) - Reviews on Biomembranes · doi:10.1016/0304-4157(95)00003-a · Cited by 2,410

A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies

Goto, Y.-I., Nonaka, I., & Horai, S. (1990) · Nature · doi:10.1038/348651a0 · Cited by 2,070

Deletions of muscle mitochondrial DNA in patients with mitochondrial myopathies

Holt, I. J., Harding, A. E., & MORGAN-HUGHES, J. A. (1988) · Nature · doi:10.1038/331717a0 · Cited by 1,860

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

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., et al. (1995) · Nature Genetics · doi:10.1038/ng1295-376 · Cited by 1,789

The genome sequence of Rickettsia prowazekii and the origin of mitochondria

Andersson, S. G. E., Zomorodipour, A., Andersson, J. O., Sicheritz-Pontén, T., Alsmark, U. C. M., Podowski, R. M., Näslund, A. K., Eriksson, A.-S., Winkler, H. H., & Kurland, C. G. (1998) · Nature · doi:10.1038/24094 · Cited by 1,697

Human Cells Lacking mtDNA: Repopulation with Exogenous Mitochondria by Complementation

King, M. P., & Attardi, G. M. (1989) · Science · doi:10.1126/science.2814477 · Cited by 1,685

Mitochondrial transcription factor A is necessary for mtDNA maintance and embryogenesis in mice

Larsson, N.-G., Wang, J., Wilhelmsson, H., Oldfors, A., Rustin, P., Lewandoski, M., Barsh, G. S., & Clayton, D. A. (1998) · Nature Genetics · doi:10.1038/ng0398-231 · Cited by 1,594

Human cells lacking mtDNA: repopulation with exogenous mitochondria by complementation

(1990) · Trends in Genetics · doi:10.1016/0168-9525(90)90040-d · Cited by 1,386

Bax and Adenine Nucleotide Translocator Cooperate in the Mitochondrial Control of Apoptosis

Marzo, I., Brenner, C., Zamzami, N., Jürgensmeier, J. M., Susin, S. A., Vieira, H. L. A., Prévost, M.-C., Xie, Z., Matsuyama, S., Reed, J. C., et al. (1998) · Science · doi:10.1126/science.281.5385.2027 · Cited by 1,168

Oxidative damage to mitochondrial DNA is increased in Alzheimer’s disease

Mecocci, P., MacGarvey, U., & Beal, M. F. (1994) · Annals of Neurology · doi:10.1002/ana.410360510 · Cited by 1,037

Neurodegeneration, myocardial injury, and perinatal death in mitochondrial superoxide dismutase-deficient mice

Lebovitz, R. M., Zhang, H., Vogel, H., Cartwright, J., Dionne, L., Lu, N., Huang, S., & Matzuk, M. M. (1996) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.93.18.9782 · Cited by 1,023

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

Holt, I. J., Harding, A. E., Petty, R., & MORGAN-HUGHES, J. A. (1990) · PubMed · Cited by 996

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

Luft, R., Ikkos, D., Palmieri, G. M. A., Ernster, L., & Afzelius, B. A. (1962) · Journal of Clinical Investigation · doi:10.1172/jci104637 · Cited by 981

Thymidine Phosphorylase Gene Mutations in MNGIE, a Human Mitochondrial Disorder

Nishino, I., Spinazzola, A., & Hirano, M. (1999) · Science · doi:10.1126/science.283.5402.689 · Cited by 899

Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., Flint Beal, M., & Wallace, D. C. (1992) · Nature Genetics · doi:10.1038/ng1292-324 · Cited by 890

Somatic mutations of the mitochondrial genome in human colorectal tumours

Polyák, K., Li, Y., Zhu, H., Christoph Lengauer, C., Willson, J. K. V., Markowitz, S. D., Trush, M. A., Kinzler, K. W., & Vogelstein, B. (1998) · Nature Genetics · doi:10.1038/3108 · Cited by 834

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Casari, G., Fusco, M. D., Ciarmatori, S., Zeviani, M., Mora, M., Fernández‐Silva, P., Michele, G. D., Filla, A., Cocozza, S., Marconi, R., et al. (1998) · Cell · doi:10.1016/s0092-8674(00)81203-9 · Cited by 826

Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain

Mecocci, P., MacGarvey, U., Kaufman, A. E., Koontz, D., Shoffner, J. M., Wallace, D. C., & Beal, M. F. (1993) · Annals of Neurology · doi:10.1002/ana.410340416 · Cited by 757

[42]Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines

Trounce, I. A., Kim, Y. L., Jun, A. S., & Wallace, D. C. (1996) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(96)64044-0 · Cited by 749

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Bourgeron, T., Rustin, P., Chretien, D., Birch-Machin, M., Bourgeois, M., Viegas-Péquignot, E., Munnich, A., & Rötig, A. (1995) · Nature Genetics · doi:10.1038/ng1095-144 · Cited by 730

Decline in skeletal muscle mitochondrial respiratory chain function: possible factor in ageing

Trounce, I., Byrne, E., & Marzuki, S. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92143-0 · Cited by 730

SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome

Zhu, Z., Yao, J., Johns, T., Fu, K., Bie, I. D., Macmillan, C., Cuthbert, A. P., Newbold, R. F., Wang, J., Chevrette, M., et al. (1998) · Nature Genetics · doi:10.1038/3804 · Cited by 620

Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion

Ballinger, S. W., Shoffner, J. M., Hedaya, E. V., Trounce, I. A., Polak, M. A., Koontz, D. A., & Wallace, D. C. (1992) · Nature Genetics · doi:10.1038/ng0492-11 · Cited by 606

Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Jenuth, J. P., Peterson, A. C., Fu, K., & Shoubridge, E. A. (1996) · Nature Genetics · doi:10.1038/ng1096-146 · Cited by 591

Mitochondrial disease in superoxide dismutase 2 mutant mice

Melov, S., Coskun, P., Patel, M., Tuinstra, R., Cottrell, B., Jun, A. S., Zastawny, T. H., Dizdaroglu, M., Goodman, S. I., Huang, T.-T., et al. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.3.846 · Cited by 581

A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator

Graham, B. H., Waymire, K. G., Cottrell, B. A., Trounce, I. A., MacGregor, G. R., & Wallace, D. C. (1997) · Nature Genetics · doi:10.1038/ng0797-226 · Cited by 556

Familial mitochondrial encephalomyopathy (MERRF): Genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

Wallace, D. C., Zheng, X., Lott, M. T., Shoffner, J. M., Hodge, J. A., Kelley, R. I., Epstein, C. M., & Hopkins, L. C. (1988) · Cell · doi:10.1016/0092-8674(88)90218-8 · Cited by 537

Mutations of SURF-1 in Leigh Disease Associated with Cytochrome c Oxidase Deficiency

Tiranti, V., Hoertnagel, K., Carrozzo, R., Galimberti, C., Munaro, M., Granatiero, M., Zelante, L., Gasparini, P., Marzella, R., Rocchi, M., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302150 · Cited by 527

MITOMAP: a human mitochondrial genome database

Kogelnik, A. M. (1996) · Nucleic Acids Research · doi:10.1093/nar/24.1.177 · Cited by 524

Emery and Rimoin's Principles and Practice of Medical Genetics

Rimoin, D. L. (1997) · Cited by 523

Mitochondria and programmed cell death: back to the future

Petit, P. X., Susín, S. A., Zamzami, N., Mignotte, B., & Kroemer, G. (1996) · FEBS Letters · doi:10.1016/0014-5793(96)00988-x · Cited by 505

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.

Chomyn, A., Martinuzzi, A., Yoneda, M., Daga, A., Hurko, O., Johns, D. R., Lai, S. T., Nonaka, I., Angelini, C. I., & Attardi, G. M. (1992) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.89.10.4221 · Cited by 491

A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase

Melov, S., Schneider, J. A., Day, B. J., Hinerfeld, D. A., Coskun, P. E., Mirra, S. S., Crapo, J. D., & Wallace, D. C. (1998) · Nature Genetics · doi:10.1038/ng0298-159 · Cited by 487

Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J. T. R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., & Robinson, B. H. (1992) · PubMed · Cited by 483

Increased Oxidative Damage Is Correlated to Altered Mitochondrial Function in Heterozygous Manganese Superoxide Dismutase Knockout Mice

Williams, M. D., Remmen, H. V., Conrad, C. C., Huang, T., Epstein, C. J., & Richardson, A. G. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.43.28510 · Cited by 453

Mitochondrial DNA Variants Observed in Alzheimer Disease and Parkinson Disease Patients

Shoffner, J. M., Brown, M. D., Torroni, A., Lott, M. T., Cabell, M. F., Mirra, S. S., Beal, M. F., Yang, C.-C., Gearing, M., Salvo, R., et al. (1993) · Genomics · doi:10.1006/geno.1993.1299 · Cited by 450

Mitochondrial ADP/ATP Carrier Can Be Reversibly Converted into a Large Channel by Ca 2+

Brustovetsky, N., & Klingenberg, M. (1996) · Biochemistry · doi:10.1021/bi960833v · Cited by 423

Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice

Jenuth, J. P., Peterson, A. C., & Shoubridge, E. A. (1997) · Nature Genetics · doi:10.1038/ng0597-93 · Cited by 415

Mitochondrial complex I deficiency leads to increased production of superoxide radicals and induction of superoxide dismutase.

Pitkanen, S., & Robinson, B. H. (1996) · Journal of Clinical Investigation · doi:10.1172/jci118798 · Cited by 388

Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease

Corral‐Debrinski, M., Shoffner, J. M., Lott, M. T., & Wallace, D. C. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90021-g · Cited by 360

The Molecular and Genetic Basis of Neurological Disease

Trojanowski, J. Q. (1993) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199309000-00013 · Cited by 341

A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia.

Jun, A. S., Brown, M. D., & Wallace, D. C. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.13.6206 · Cited by 316

Marked changes in mitochondrial DNA deletion levels in Alzheimer brains

Corral-Debrinski, M., Horton, T., Lott, M. T., Shoffner, J. M., McKee, A. C., Beal, M. F., Graham, B. H., & Wallace, D. C. (1994) · Genomics · doi:10.1006/geno.1994.1525 · Cited by 309

In Vitro Genetic Transfer of Protein Synthesis and Respiration Defects to Mitochondrial DNA-Less Cells with Myopathy-Patient Mitochondria

Chomyn, A., Meola, G., Bresolin, N., Lai, S. T., Scarlato, G., & Attardi, G. M. (1991) · Molecular and Cellular Biology · doi:10.1128/mcb.11.4.2236 · Cited by 301

The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome

Loeffen, J. L. C., Smeitink, J. A. M., Triepels, R. H., Smeets, R., Schuelke, M., Sengers, R. C. A., Trijbels, F. J. M., Hamel, B. C. J., Mullaart, R. A., & van den Heuvel, L. (1998) · The American Journal of Human Genetics · doi:10.1086/302154 · Cited by 283

Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle

Melov, S., Shoffner, J. M., Kaufman, A. E., & Wallace, D. C. (1995) · Nucleic Acids Research · doi:10.1093/nar/23.20.4122 · Cited by 271

The Protein Import System of Mitochondria

Schatz, G. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.50.31763 · Cited by 263

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

van den Heuvel, L., Ruitenbeek, W., Smeets, R., Gelman-Kohan, Z., Elpeleg, O. N., Loeffen, J. L. C., Trijbels, F. J. M., Mariman, E. C. M., de Bruijn, D. R. H., & Smeitink, J. A. M. (1998) · The American Journal of Human Genetics · doi:10.1086/301716 · Cited by 260

MITOCHONDRIAL DNA DELETION IN PEARSON'S MARROW/PANCREAS SYNDROME

Rötig, A., Colonna, M., Bonnefont, J., Blanche, S., Fischer, A., Saudubray, J., & Münnich, A. (1989) · The Lancet · doi:10.1016/s0140-6736(89)92897-3 · Cited by 260

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

Shoubridge, E. A., Karpati, G., & Hastings, K. E. M. (1990) · Cell · doi:10.1016/0092-8674(90)90238-a · Cited by 245

An autosomal locus predisposing to deletions of mitochondrial DNA

Suomalainen, A., Kaukonen, J., Amati‐Bonneau, P., Timonen, R., Haltia, M., Weissenbach, J., Zeviani, M., Somer, H., & Peltonen, L. (1995) · Nature Genetics · doi:10.1038/ng0295-146 · Cited by 238

Ancient mtDNA sequences in the human nuclear genome: A potential source of errors in identifying pathogenic mutations

Wallace, D. C., Stugard, C., Murdock, D. G., Schurr, T. G., & Brown, M. D. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.26.14900 · Cited by 219

Mitochondrial diabetes mellitus: a review

Gerbitz, K.-D., van den Ouweland, J. M. W., Maassen, J. A., & Jaksch, M. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00036-4 · Cited by 218

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome.

Mita, S., Schmidt, B., Schon, E. A., DiMauro, S., & Bonilla, E. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.23.9509 · Cited by 211

Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio.

Trounce, I. A., Neill, S. G., & Wallace, D. C. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.18.8334 · Cited by 190

Cytoplasmic Inheritance of Chloramphenicol Resistance in Mouse Tissue Culture Cells

Bunn, C. L., Wallace, D. C., & Eisenstadt, J. M. (1974) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.71.5.1681 · Cited by 183

A mitochondrial DNA clone is associated with increased risk for Alzheimer disease.

Hutchin, T. P., & Cortopassi, G. A. (1995) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.92.15.6892 · Cited by 183

Techniques in Somatic Cell Genetics

Shay, J. W. (1982) · Springer eBooks · doi:10.1007/978-1-4684-4271-7 · Cited by 173

Structure and evolution of organelle genomes

Wallace, D. C. (1982) · Microbiological Reviews · doi:10.1128/mr.46.2.208-240.1982 · Cited by 171

Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells.

Wallace, D. C., Bunn, C. L., & Eisenstadt, J. M. (1975) · The Journal of Cell Biology · doi:10.1083/jcb.67.1.174 · Cited by 166

Novel mitochondrial DNA deletion found in a renal cell carcinoma

Horton, T. M., Petros, J. A., Heddi, A., Shoffner, J. S., Kaufman, A. E., GRAHAM, S. D. J., Gramlich, T. L., & Wallace, D. C. (1996) · Genes Chromosomes and Cancer · doi:10.1002/(sici)1098-2264(199602)15:2 · Cited by 163

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

Jun, A. S., Trounce, I. A., Brown, M. D., Shoffner, J. M., & Wallace, D. C. (1996) · Molecular and Cellular Biology · doi:10.1128/mcb.16.3.771 · Cited by 158

Microsatellite instability in the mitochondrial DNA of colorectal carcinomas: Evidence for mismatch repair systems in mitochondrial genome

Habano, W., Nakamura, S., & Sugai, T. (1998) · Oncogene · doi:10.1038/sj.onc.1202112 · Cited by 155

Subacute necrotizing encephalopathy

Shoffner, J. M., Fernhoff, P. M., Krawiecki, N., Caplan, D. B., Holt, P., Koontz, D. A., Takei, Y., Newman, N. J., Ortiz, R. G., Polak, M., et al. (1992) · Neurology · doi:10.1212/wnl.42.11.2168 · Cited by 154

Leber's disease and dystonia

Novotny, E. J., Singh, G., Wallace, D. C., Dorfman, L. J., Louis, A. A., Sogg, R. L., & Steinman, L. (1986) · Neurology · doi:10.1212/wnl.36.8.1053 · Cited by 150

Mitochondrial Genotype Segregation During Preimplantation Development in Mouse Heteroplasmic Embryos

Meirelles, F. V., & Smith, L. C. (1998) · Genetics · doi:10.1093/genetics/148.2.877 · Cited by 132

Detection of hydroxyl radical in the mitochondria of ischemic-reperfused myocardium by trapping with salicylate

Das, D. K., George, A., Liu, X., & Rao, P. S. (1989) · Biochemical and Biophysical Research Communications · doi:10.1016/0006-291x(89)92702-2 · Cited by 123

Nuclear complementation restores mtDNA levels in cultured cells from a patient with mtDNA depletion.

Bodnar, A. G., Cooper, J. M., Holt, I. J., et al. (1993) · PubMed · Cited by 118

Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation

Shoffner, J. M., Brown, M. D., Stugard, C., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410380207 · Cited by 114

Multi-Organ Characterization of Mitochondrial Genomic Rearrangements in Ad Libitum and Caloric Restricted Mice Show Striking Somatic Mitochondrial DNA Rearrangements with Age

Melov, S., Hinerfeld, D. A., Esposito, L., & Wallace, D. C. (1997) · Nucleic Acids Research · doi:10.1093/nar/25.5.974 · Cited by 113

In Vitro Analysis of Mutations Causing Myoclonus Epilepsy with Ragged-Red Fibers in the Mitochondrial tRNALys Gene: Two Genotypes Produce Similar Phenotypes

Masucci, J. P., Davidson, M. M., Koga, Y., Schon, E. A., & King, M. P. (1995) · Molecular and Cellular Biology · doi:10.1128/mcb.15.5.2872 · Cited by 111

Progressive loss of cytochrome c oxidase in the human extraocular muscles in ageing — a cytochemical-immunohistochemical study

Müller‐Höcker, J., Schneiderbanger, K., Stefani, F. H., & Kadenbach, B. (1992) · Mutation Research/DNAging · doi:10.1016/0921-8734(92)90016-i · Cited by 111

Mitochondrial DNA expression in mitochondrial myopathies and coordinated expression of nuclear genes involved in ATP production

Heddi, A., Lestienne, P. P., Wallace, D. C., & Stepien, G. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)50321-0 · Cited by 108

Mitochondria transfer into mouse ova by microinjection

Pinkert, C. A., Irwin, M. H., JOHNSON, L. W., & Moffatt, R. J. (1997) · Transgenic Research · doi:10.1023/a:1018431316831 · Cited by 106

Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients

Horton, T. M., Graham, B. H., Corral‐Debrinski, M., Shoffner, J. M., Kaufman, A. E., Beal, M. F., & Wallace, D. C. (1995) · Neurology · doi:10.1212/wnl.45.10.1879 · Cited by 106

Clinical features of melas and mitochondrial DNA mutations

Goto, Y. (1995) · Muscle & Nerve · doi:10.1002/mus.880181422 · Cited by 92

Molecular genetic characterization of an X‐linked form of Leigh's syndrome

Matthews, P. M., Marchington, D. R., Squier, M. V., et al. (1993) · Annals of Neurology · doi:10.1002/ana.410330616 · Cited by 85

Variable Retinal and Neurologic Manifestations in Patients Harboring the Mitochondrial DNA 8993 Mutation

Ortiz, R. G. (1993) · Archives of Ophthalmology · doi:10.1001/archopht.1993.01090110091031 · Cited by 80

Teratocarcinoma cells as vehicles for introducing specific mutant mitochondrial genes into mice

Watanabe, T., Dewey, M. J., & Mintz, B. (1978) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.75.10.5113 · Cited by 48

Superoxide dismutases of muscle in mitochondrial encephalomyopathies

Ohkoshi, N., Mizusawa, H., Shiraiwa, N., et al. (1995) · Muscle & Nerve · doi:10.1002/mus.880181108 · Cited by 39

Steady state levels of mitochondrial and nuclear oxidative phosphorylation transcripts in Kearns-Sayre syndrome

Heddi, A., Lestienne, P. P., Wallace, D. C., et al. (1994) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(94)90030-2 · Cited by 33

Searching for genes affecting the structural integrity of the mitochondrial genome

Zeviani, M., Amati‐Bonneau, P., Comi, G. P., Fratta, G. M., Mariotti, C., & Tiranti, V. (1995) · Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · doi:10.1016/0925-4439(95)00022-v · Cited by 27

Cytoplasmic Inheritance of Chloramphenicol Resistance in Mammalian Cells

Wallace, D. C. (1982) · Springer eBooks · doi:10.1007/978-1-4684-4271-7_12 · Cited by 21

Alzheimer’s disease

Querfurth, H. W., & LaFerla, F. M. (2010) · New England Journal of Medicine · doi:10.1056/nejmra0909142 · Cited by 4,569

Mechanisms controlling mitochondrial biogenesis and respiration through the thermogenic coactivator PGC-1

Wu, Z., Puigserver, P., Andersson, U., Zhang, C., Adelmant, G., Mootha, V., Troy, A., Cinti, S., Lowell, B., Scarpulla, R. C., et al. (1999) · Cell · doi:10.1016/s0092-8674(00)80611-x · Cited by 4,139

A Mitochondrial Paradigm of Metabolic and Degenerative Diseases, Aging, and Cancer: A Dawn for Evolutionary Medicine

Wallace, D. C. (2005) · Annual Review of Genetics · doi:10.1146/annurev.genet.39.110304.095751 · Cited by 3,185

Mitochondrial control of cell death

Kroemer, G., & Reed, J. C. (2000) · Nature Medicine · doi:10.1038/74994 · Cited by 3,103

Suppression of Reactive Oxygen Species and Neurodegeneration by the PGC-1 Transcriptional Coactivators

St-Pierre, J., Drori, S., Uldry, M., Silvaggi, J. M., Rhee, J., Jäger, S., Handschin, C., Zheng, K., Lin, J., Yang, W., et al. (2006) · Cell · doi:10.1016/j.cell.2006.09.024 · Cited by 2,233

Oxidative Damage in Mitochondrial DNA Is Not Extensive

Lim, K. S., Jeyaseelan, K., Whiteman, M., Jenner, A. M., & Halliwell, B. B. (2005) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1338.023 · Cited by 49

Large Mitochondrial DNA Deletion in an Infant with Addison Disease

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