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Article

Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.

Gastroenterology - 1 Feb 2003

Huster Dominik, Hoppert Michael, Lutsenko Svetlana, Zinke Jan, Lehmann Claudia, Mössner Joachim, Berr Frieder, Caca Karel

Abstract excerpt

BACKGROUND & AIMS: Wilson's disease, a hereditary disorder caused by mutations in the Wilson's disease gene (ATP7B), leads to hepatic and/or neurological pathology resulting from cellular copper overload. In vitro studies showed that ATP7B, located in the trans-Golgi network, traffics to a cytoplasmic vesicular compartment in response to increased copper concentration. Mislocalization and failed intracellular...

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PMID: 12557139
DOI: 10.1053/gast.2003.50066

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Defective cellular localization of mutant ATP7B in Wilson's disease patients and hepatoma cell lines.PMID 12557139Read ↗

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Dysfunction of ATP7B Splicing Variant Caused by Enhanced Interaction With COMMD1 in Wilson Disease.Semantic proximity Read ↗

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