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Article

Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?

Journal of inherited metabolic disease - 1 Jan 2004

Freisinger P, Horvath R, Macmillan C, Peters J, Jaksch M

Abstract excerpt

Mutations in Sco2, a protein involved in copper trafficking to the terminal enzyme of the respiratory chain, cytochrome c oxidase, results in infantile hypertrophic cardioencephalomyopathy. We have recently shown that copper-histidine (Cu-his) supplementation of Sco2-deficient myoblasts rescues C...

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Identifiers

PMID: 14970747
DOI: 10.1023/B:BOLI.0000016614.47380.2f

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-14970747-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

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

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Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?PMID 14970747Read ↗

Cytochrome c oxidase deficiency due to mutations in SCO2, encoding a mitochondrial copper-binding protein, is rescued by copper in human myoblasts.Semantic proximity Read ↗

Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations.Semantic proximity Read ↗

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

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

Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity.Semantic proximity Read ↗

Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Semantic proximity Read ↗

The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis.Semantic proximity Read ↗

Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2.Semantic proximity Read ↗

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.Semantic proximity Read ↗

Human SCO1 and SCO2 have independent, cooperative functions in copper delivery to cytochrome c oxidase.Semantic proximity Read ↗

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

Phenotypic consequences of a novel SCO2 gene mutation.Semantic proximity Read ↗

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