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MeSH Review

Mitochondrial Diseases

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Disease relevance of Mitochondrial Diseases


Psychiatry related information on Mitochondrial Diseases


High impact information on Mitochondrial Diseases


Chemical compound and disease context of Mitochondrial Diseases


Biological context of Mitochondrial Diseases


Anatomical context of Mitochondrial Diseases


Gene context of Mitochondrial Diseases


Analytical, diagnostic and therapeutic context of Mitochondrial Diseases


  1. Rescue of a deficiency in ATP synthesis by transfer of MTATP6, a mitochondrial DNA-encoded gene, to the nucleus. Manfredi, G., Fu, J., Ojaimi, J., Sadlock, J.E., Kwong, J.Q., Guy, J., Schon, E.A. Nat. Genet. (2002) [Pubmed]
  2. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. Majamaa, K., Moilanen, J.S., Uimonen, S., Remes, A.M., Salmela, P.I., Kärppä, M., Majamaa-Voltti, K.A., Rusanen, H., Sorri, M., Peuhkurinen, K.J., Hassinen, I.E. Am. J. Hum. Genet. (1998) [Pubmed]
  3. In vitro analysis of mutations causing myoclonus epilepsy with ragged-red fibers in the mitochondrial tRNA(Lys)gene: two genotypes produce similar phenotypes. Masucci, J.P., Davidson, M., Koga, Y., Schon, E.A., King, M.P. Mol. Cell. Biol. (1995) [Pubmed]
  4. Titrating the effects of mitochondrial complex I impairment in the cell physiology. Barrientos, A., Moraes, C.T. J. Biol. Chem. (1999) [Pubmed]
  5. A placebo-controlled crossover trial of creatine in mitochondrial diseases. Klopstock, T., Querner, V., Schmidt, F., Gekeler, F., Walter, M., Hartard, M., Henning, M., Gasser, T., Pongratz, D., Straube, A., Dieterich, M., Müller-Felber, W. Neurology (2000) [Pubmed]
  6. Mitochondrial dysfunction in bipolar disorder. Kato, T., Kato, N. Bipolar disorders. (2000) [Pubmed]
  7. Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Rötig, A., de Lonlay, P., Chretien, D., Foury, F., Koenig, M., Sidi, D., Munnich, A., Rustin, P. Nat. Genet. (1997) [Pubmed]
  8. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Nishino, I., Spinazzola, A., Hirano, M. Science (1999) [Pubmed]
  9. A common mitochondrial DNA variant associated with susceptibility to dilated cardiomyopathy in two different populations. Khogali, S.S., Mayosi, B.M., Beattie, J.M., McKenna, W.J., Watkins, H., Poulton, J. Lancet (2001) [Pubmed]
  10. Wolfram syndrome: mitochondrial disorder. Bundey, S., Fielder, A., Poulton, K. Lancet (1993) [Pubmed]
  11. Taurine as a constituent of mitochondrial tRNAs: new insights into the functions of taurine and human mitochondrial diseases. Suzuki, T., Suzuki, T., Wada, T., Saigo, K., Watanabe, K. EMBO J. (2002) [Pubmed]
  12. Zidovudine administration during pregnancy and mitochondrial disease in the offspring. Tovo, P.A., Chiapello, N., Gabiano, C., Zeviani, M., Spada, M. Antivir. Ther. (Lond.) (2005) [Pubmed]
  13. A novel system for assigning the mode of inheritance in mitochondrial disorders using cybrids and rhodamine 6G. Williams, A.J., Murrell, M., Brammah, S., Minchenko, J., Christodoulou, J. Hum. Mol. Genet. (1999) [Pubmed]
  14. Light microscopic immunocytochemical localization of pyruvate dehydrogenase complex in rat brain: topographical distribution and relation to cholinergic and catecholaminergic nuclei. Milner, T.A., Aoki, C., Sheu, K.F., Blass, J.P., Pickel, V.M. J. Neurosci. (1987) [Pubmed]
  15. Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion. Pineda, M., Ormazabal, A., López-Gallardo, E., Nascimento, A., Solano, A., Herrero, M.D., Vilaseca, M.A., Briones, P., Ibáñez, L., Montoya, J., Artuch, R. Ann. Neurol. (2006) [Pubmed]
  16. A defect in the cytochrome b large subunit in complex II causes both superoxide anion overproduction and abnormal energy metabolism in Caenorhabditis elegans. Senoo-Matsuda, N., Yasuda, K., Tsuda, M., Ohkubo, T., Yoshimura, S., Nakazawa, H., Hartman, P.S., Ishii, N. J. Biol. Chem. (2001) [Pubmed]
  17. Deficit of in vivo mitochondrial ATP production in patients with Friedreich ataxia. Lodi, R., Cooper, J.M., Bradley, J.L., Manners, D., Styles, P., Taylor, D.J., Schapira, A.H. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  18. Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. Hanna, M.G., Nelson, I.P., Rahman, S., Lane, R.J., Land, J., Heales, S., Cooper, M.J., Schapira, A.H., Morgan-Hughes, J.A., Wood, N.W. Am. J. Hum. Genet. (1998) [Pubmed]
  19. The pre-mRNA of nuclear respiratory factor 1, a regulator of mitochondrial biogenesis, is alternatively spliced in human tissues and cell lines. Spelbrink, J.N., Van den Bogert, C. Hum. Mol. Genet. (1995) [Pubmed]
  20. Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A). Allikmets, R., Raskind, W.H., Hutchinson, A., Schueck, N.D., Dean, M., Koeller, D.M. Hum. Mol. Genet. (1999) [Pubmed]
  21. Impaired activation of oxygen consumption and blood flow in visual cortex of patients with mitochondrial encephalomyopathy. Vafaee, M.S., Meyer, E., Gjedde, A. Ann. Neurol. (2000) [Pubmed]
  22. Microanalysis of cardiolipin in small biopsies including skeletal muscle from patients with mitochondrial disease. Schlame, M., Shanske, S., Doty, S., König, T., Sculco, T., DiMauro, S., Blanck, T.J. J. Lipid Res. (1999) [Pubmed]
  23. Cerebral white matter disease in children may be caused by mitochondrial respiratory chain deficiency. de Lonlay-Debeney, P., von Kleist-Retzow, J.C., Hertz-Pannier, L., Peudenier, S., Cormier-Daire, V., Berquin, P., Chrétien, D., Rötig, A., Saudubray, J.M., Baraton, J., Brunelle, F., Rustin, P., Van Der Knaap, M., Munnich, A. J. Pediatr. (2000) [Pubmed]
  24. Mitochondrial disease and reduced sperm motility. Folgerø, T., Bertheussen, K., Lindal, S., Torbergsen, T., Oian, P. Hum. Reprod. (1993) [Pubmed]
  25. In vitro effects of glucocorticoid on mitochondrial energy metabolism. Martens, M.E., Peterson, P.L., Lee, C.P. Biochim. Biophys. Acta (1991) [Pubmed]
  26. Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. Danielson, S.R., Carelli, V., Tan, G., Martinuzzi, A., Schapira, A.H., Savontaus, M.L., Cortopassi, G.A. Brain (2005) [Pubmed]
  27. Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells. Seo, B.B., Kitajima-Ihara, T., Chan, E.K., Scheffler, I.E., Matsuno-Yagi, A., Yagi, T. Proc. Natl. Acad. Sci. U.S.A. (1998) [Pubmed]
  28. Human deafness dystonia syndrome is a mitochondrial disease. Koehler, C.M., Leuenberger, D., Merchant, S., Renold, A., Junne, T., Schatz, G. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  29. Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice. Agostino, A., Invernizzi, F., Tiveron, C., Fagiolari, G., Prelle, A., Lamantea, E., Giavazzi, A., Battaglia, G., Tatangelo, L., Tiranti, V., Zeviani, M. Hum. Mol. Genet. (2003) [Pubmed]
  30. Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population. González-Vioque, E., Blázquez, A., Fernández-Moreira, D., Bornstein, B., Bautista, J., Arpa, J., Navarro, C., Campos, Y., Fernández-Moreno, M.A., Garesse, R., Arenas, J., Martín, M.A. Arch. Neurol. (2006) [Pubmed]
  31. 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., Bayona-Bafaluy, M.P., Enriquez, J.A., Uziel, G., Bertini, E., Dionisi-Vici, C., Franco, B., Meitinger, T., Zeviani, M. Am. J. Hum. Genet. (1998) [Pubmed]
  32. Cell culture studies on patients with mitochondrial diseases: molecular defects in pyruvate dehydrogenase. Robinson, B.H. J. Bioenerg. Biomembr. (1988) [Pubmed]
  33. Disorders of lipid metabolism in muscle. Di Mauro, S., Trevisan, C., Hays, A. Muscle Nerve (1980) [Pubmed]
  34. Hypertrophic cardiomyopathy and mtDNA depletion. Successful treatment with heart transplantation. Santorelli, F.M., Gagliardi, M.G., Dionisi-Vici, C., Parisi, F., Tessa, A., Carrozzo, R., Piemonte, F., Pfeiffer, K., Schägger, H., Bertini, E. Neuromuscul. Disord. (2002) [Pubmed]
  35. Segregation of mitochondrial DNA (mtDNA) in human oocytes and in animal models of mtDNA disease: clinical implications. Poulton, J., Marchington, D.R. Reproduction (2002) [Pubmed]
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