Article
Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin.
Hepatology (Baltimore, Md.) - 1 Dec 2009
van den Berghe Peter V E, Stapelbroek Janneke M, Krieger Elmar, de Bie Prim, van de Graaf Stan F J, de Groot Reinoud E A, van Beurden Ellen, Spijker Ellen, Houwen Roderick H J, Berger Ruud, Klomp Leo W J
Abstract excerpt
UNLABELLED: Wilson disease (WD) is an autosomal recessive copper overload disorder of the liver and basal ganglia. WD is caused by mutations in the gene encoding ATP7B, a protein localized to the trans-Golgi network that primarily facilitates hepatic copper excretion. Current treatment comprises...
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