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.

top of page

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.

B

top of page

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 mam