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Article

Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.

Proceedings of the National Academy of Sciences of the United States of America - 1 Sept 1998

Payne A S, Kelly E J, Gitlin J D

Abstract excerpt

Wilson disease is an autosomal recessive disorder of hepatic copper metabolism caused by mutations in a gene encoding a copper-transporting P-type ATPase. To elucidate the function of the Wilson protein, wild-type and mutant Wilson cDNAs were expressed in a Menkes copper transporter-deficient mottled fibroblast cell line defective in copper export. Expression of the wild-type cDNA demonstrated trans-Golgi network...

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Identifiers

PMID: 9724794
DOI: 10.1073/pnas.95.18.10854
PMCID: PMC27985

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Functional expression of the Wilson disease protein reveals mislocalization and impaired copper-dependent trafficking of the common H1069Q mutation.PMID 9724794Read ↗

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

Characterization of the most frequent ATP7B mutation causing Wilson disease in hepatocytes from patient induced pluripotent stem cells.Semantic proximity Read ↗

Identification of p38 MAPK and JNK as new targets for correction of Wilson disease-causing ATP7B mutants.Semantic proximity Read ↗

A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease.Semantic proximity Read ↗

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

Critical roles for the COOH terminus of the Cu-ATPase ATP7B in protein stability, trans-Golgi network retention, copper sensing, and retrograde trafficking.Semantic proximity Read ↗

Analysis of Wilson disease mutations revealed that interactions between different ATP7B mutants modify their properties.Semantic proximity Read ↗

A mutation of the Wilson disease protein, ATP7B, is degraded in the proteasomes and forms protein aggregates.Semantic proximity Read ↗

Distinct phenotype of a Wilson disease mutation reveals a novel trafficking determinant in the copper transporter ATP7B.Semantic proximity Read ↗

Diverse functional properties of Wilson disease ATP7B variants.Semantic proximity Read ↗

Wilson disease-causing mutations in the carboxyl terminus of ATP7B regulates its localization and Golgi exit selectively in the unpolarized cells.Semantic proximity Read ↗

Trafficking of the copper-ATPases, ATP7A and ATP7B: role in copper homeostasis.Semantic proximity Read ↗

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