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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Cytochrome-c Oxidase Deficiency

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Disease relevance of Cytochrome-c Oxidase Deficiency


High impact information on Cytochrome-c Oxidase Deficiency


Chemical compound and disease context of Cytochrome-c Oxidase Deficiency


Biological context of Cytochrome-c Oxidase Deficiency


Gene context of Cytochrome-c Oxidase Deficiency

  • In three unrelated patients with systemic cytochrome oxidase deficiency resulting from mutations in the SURF1 gene, the same mutation in the splice donor site of intron 3 was identified [12].


  1. Combined aerobic training and dichloroacetate improve exercise capacity and indices of aerobic metabolism in muscle cytochrome oxidase deficiency. Taivassalo, T., Matthews, P.M., De Stefano, N., Sripathi, N., Genge, A., Karpati, G., Arnold, D.L. Neurology (1996) [Pubmed]
  2. The use of skin fibroblast cultures in the detection of respiratory chain defects in patients with lacticacidemia. Robinson, B.H., Glerum, D.M., Chow, W., Petrova-Benedict, R., Lightowlers, R., Capaldi, R. Pediatr. Res. (1990) [Pubmed]
  3. Mutagenesis reveals a specific role for Cox17p in copper transport to cytochrome oxidase. Punter, F.A., Glerum, D.M. J. Biol. Chem. (2003) [Pubmed]
  4. Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency. Horvath, R., Lochmüller, H., Stucka, R., Yao, J., Shoubridge, E.A., Kim, S.H., Gerbitz, K.D., Jaksch, M. Biochem. Biophys. Res. Commun. (2000) [Pubmed]
  5. Determination of [U-13C]glucose turnover into various metabolite pools for the differential diagnosis of lactic acidemias. Kassel, D.B., Glerum, M., Robinson, B.H., Sweeley, C.C. Anal. Biochem. (1989) [Pubmed]
  6. Myopathies due to enzyme deficiencies. Cornelio, F., Di Donato, S. J. Neurol. (1985) [Pubmed]
  7. Impaired degradation of phytanic acid in cells from patients with mitochondriopathies: evidence for the involvement of ETF and the respiratory chain in phytanic acid alpha-oxidation. Fingerhut, R., Schmitz, W., Garavaglia, B., Reichmann, H., Conzelmann, E. J. Inherit. Metab. Dis. (1994) [Pubmed]
  8. Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Robinson, B.H., Petrova-Benedict, R., Buncic, J.R., Wallace, D.C. Biochem. Med. Metab. Biol. (1992) [Pubmed]
  9. The role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNA. Xu, F., Morin, C., Mitchell, G., Ackerley, C., Robinson, B.H. Biochem. J. (2004) [Pubmed]
  10. Skin fibroblast carnitine uptake in secondary carnitine deficiency disorders. Tein, I., De Vivo, D.C., Ranucci, D., DiMauro, S. J. Inherit. Metab. Dis. (1993) [Pubmed]
  11. Twitch response of striated muscle in patients with progressive external ophthalmoplegia, mitochondrial myopathy and focal cytochrome c-oxidase deficiency. Moglia, A., Alfonsi, E., Piccolo, G., Lozza, A., Arrigo, A., Bollani, E., Malaguti, S. Italian journal of neurological sciences. (1995) [Pubmed]
  12. Diagnostic difficulties with common SURF1 mutations in patients with cytochrome oxidase-deficient Leigh syndrome. Head, R.A., Brown, R.M., Brown, G.K. J. Inherit. Metab. Dis. (2004) [Pubmed]
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