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Article

Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.

American journal of human genetics - 1 Nov 2000

Valnot I, Osmond S, Gigarel N, Mehaye B, Amiel J, Cormier-Daire V, Munnich A, Bonnefont J P, Rustin P, Rötig A

Abstract excerpt

Cytochrome c oxidase (COX) catalyzes both electron transfer from cytochrome c to molecular oxygen and the concomitant vectorial proton pumping across the inner mitochondrial membrane. Studying a large family with multiple cases of neonatal ketoacidotic comas and isolated COX deficiency, we have m...

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Share to Chromosomes, Human, Pair 17
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 11013136
DOI: 10.1016/S0002-9297(07)62940-1
PMCID: PMC1288552

Genes

SCO1
COX10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-11013136-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.PMID 11013136Read ↗

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Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.Semantic proximity Read ↗

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.Semantic proximity Read ↗

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Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype.Semantic proximity Read ↗

SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency.Semantic proximity Read ↗

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy.Semantic proximity Read ↗

Heart is the most susceptible organ in an isogenic background to loss of function mutations in the mitochondrial metallochaperone SCO1.Semantic proximity Read ↗

Characterization of human SCO1 and COX17 genes in mitochondrial cytochrome-c-oxidase deficiency.Semantic proximity Read ↗

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.Semantic proximity Read ↗

Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein.Semantic proximity Read ↗

The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.Semantic proximity Read ↗

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