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Article

A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism.

Metallomics : integrated biometal science - 1 Jul 2012

Schushan Maya, Bhattacharjee Ashima, Ben-Tal Nir, Lutsenko Svetlana

Abstract excerpt

The copper-transporting ATPase ATP7B has an essential role in human physiology, particularly for the liver and brain function. Inactivation of ATP7B is associated with a severe hepato-neurologic disorder, Wilson disease (WD). Hundreds of WD related mutations have been identified in ATP7B to date. The low frequency and the compound-heterozygous nature of causative mutations complicate the analysis of individual...

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Identifiers

PMID: 22692182
DOI: 10.1039/c2mt20025b
PMCID: PMC6365107

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Source receipt: pubmed, retrieved 7 Sept 2026.

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