Article
A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.
Gastroenterology - 1 Mar 2001
Harada M, Sakisaka S, Terada K, Kimura R, Kawaguchi T, Koga H, Kim M, Taniguchi E, Hanada S, Suganuma T, Furuta K, Sugiyama T, Sata M
Abstract excerpt
BACKGROUND & AIMS: Wilson disease is a genetic disorder characterized by the accumulation of copper in the body as a result of a defect of copper excretion from hepatocytes. The intracellular localization of the Wilson disease gene product, ATP7B, was recently identified as the late endosomes. Various mutations have been documented in patients with Wilson disease. The clinical manifestations vary greatly among...
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