Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.
until further notice
SourceAnnals of Neurology, 56, 4, (2004), pp. 560-564
Article / Letter to editor
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Annals of Neurology
SubjectUMCN 5.1: Genetic defects of metabolism; UMCN 5.3: Cellular energy metabolism; UMCN 5.4: Renal disorders
We report a cytochrome c oxidase (COX)-deficient patient, clinically affected with Leigh-like disease, with a homozygous mutation in the COX10 start codon. Two-dimensional gel electrophoresis showed a decrease of fully assembled COX without the accumulation of partially assembled COX subcomplexes. Western blot analysis with antibodies directed to COX subunits I, II, and IV showed a decrease of these subunits in this patient compared with control. Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause.
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