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

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 mottle...

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Publicado en:	Proc Natl Acad Sci U S A
Autores principales:	Payne, Aimee S., Kelly, Edward J., Gitlin, Jonathan D.
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	National Academy of Sciences 1998
Materias:	Biological Sciences
Acceso en línea:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC27985/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/9724794/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.95.18.10854
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