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Article

Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

Human mutation - 1 Aug 2012

Huppke Peter, Brendel Cornelia, Korenke Georg Christoph, Marquardt Iris, Donsante Anthony, Yi Ling, Hicks Julia D, Steinbach Peter J, Wilson Callum, Elpeleg Orly, Møller Lisbeth Birk, Christodoulou John, Kaler Stephen G, Gärtner Jutta

Abstract excerpt

Copper (Cu) is a trace metal that readily gains and donates electrons, a property that renders it desirable as an enzyme cofactor but dangerous as a source of free radicals. To regulate cellular Cu metabolism, an elaborate system of chaperones and transporters has evolved, although no human Cu ch...

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Source

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Identifiers

PMID: 22508683
DOI: 10.1002/humu.22099
PMCID: PMC3399931

Genes

CCS
SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22508683-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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