Article
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics - 1 Nov 1999
Papadopoulou L C, Sue C M, Davidson M M, Tanji K, Nishino I, Sadlock J E, Krishna S, Walker W, Selby J, Glerum D M, Coster R V, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo D C, Bonilla E, Hirano M, DiMauro S, Schon E A
Abstract excerpt
Mammalian cytochrome c oxidase (COX) catalyses the transfer of reducing equivalents from cytochrome c to molecular oxygen and pumps protons across the inner mitochondrial membrane. Mitochondrial DNA (mtDNA) encodes three COX subunits (I-III) and nuclear DNA (nDNA) encodes ten. In addition, ancillary proteins are required for the correct assembly and function of COX (refs 2, 3, 4, 5, 6). Although pathogenic...
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