Diverse functional properties of Wilson disease ATP7B variants.

ABSTRACT:

Background & aims

Wilson disease is a severe disorder of copper metabolism caused by mutations in ATP7B, which encodes a copper-transporting adenosine triphosphatase. The disease presents with a variable phenotype that complicates the diagnostic process and treatment. Little is known about the mechanisms that contribute to the different phenotypes of the disease.

Methods

We analyzed 28 variants of ATP7B from patients with Wilson disease that affected different functional domains; the gene products were expressed using the baculovirus expression system in Sf9 cells. Protein function was analyzed by measuring catalytic activity and copper ((64)Cu) transport into vesicles. We studied intracellular localization of variants of ATP7B that had measurable transport activities and we

SUBMITTER: Huster D 

PROVIDER: S-EPMC3461965 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature