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Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.
Pecina P, Capková M, Chowdhury SK, Drahota Z, Dubot A, Vojtísková A, Hansíková H, Houst'ková H, Zeman J, Godinot C, Houstek J. Pecina P, et al. Among authors: drahota z. Biochim Biophys Acta. 2003 Sep 1;1639(1):53-63. doi: 10.1016/s0925-4439(03)00127-3. Biochim Biophys Acta. 2003. PMID: 12943968 Free article.
TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy.
Cízková A, Stránecký V, Mayr JA, Tesarová M, Havlícková V, Paul J, Ivánek R, Kuss AW, Hansíková H, Kaplanová V, Vrbacký M, Hartmannová H, Nosková L, Honzík T, Drahota Z, Magner M, Hejzlarová K, Sperl W, Zeman J, Houstek J, Kmoch S. Cízková A, et al. Among authors: drahota z. Nat Genet. 2008 Nov;40(11):1288-90. doi: 10.1038/ng.246. Epub 2008 Oct 26. Nat Genet. 2008. PMID: 18953340
216 results