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Article

Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene.

Annals of neurology - 1 Oct 2004

Coenen Marieke J H, van den Heuvel Lambert P, Ugalde Cristina, Ten Brinke Marike, Nijtmans Leo G J, Trijbels Frans J M, Beblo Skadi, Maier Esther M, Muntau Ania C, Smeitink Jan A M

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Electrophoresis, Gel, Two-Dimensional

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Source

Identifiers

PMID: 15455402
DOI: 10.1002/ana.20229

Genes

COX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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