Distinct Wilson-disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B

BACKGROUND/AIMS: Wilson disease is characterized by hepatic copper overload and caused by mutations in the gene encoding the copper transporting P-type ATPase ATP7B. ATP7B interacts with COMMD1, a protein that is deleted in Bedlington terriers with hereditary copper toxicosis. Here we characterized...

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Main Authors: de Bie, Prim, van de Sluis, Bart, Burstein, Ezra, van de Berghe, Peter V.E., Muller, Patricia, Berger, Ruud, Gitlin, Jonathan D., Wijmenga, Cisca, Klomp, Leo W.J.
Formato: Artigo
Idioma:Inglês
Publicado em: 2007
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2857755/
https://ncbi.nlm.nih.gov/pubmed/17919502
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1053/j.gastro.2007.07.020
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