Article
Distinct Wilson's disease mutations in ATP7B are associated with enhanced binding to COMMD1 and reduced stability of ATP7B.
Gastroenterology - 1 Oct 2007
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
Abstract excerpt
BACKGROUND & AIMS: Wilson's disease (WD) is characterized by hepatic copper overload and caused by mutations in the gene encoding the copper-transporting P-type adenosine triphosphatase (ATPase) ATP7B. ATP7B interacts with COMMD1, a protein that is deleted in Bedlington terriers with hereditary copper toxicosis. Here we characterized the implications of the interaction between COMMD1 and ATP7B in relation to the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.