Article
Non-ceruloplasmin bound copper and ATP7B gene variants in Alzheimer's disease.
Metallomics : integrated biometal science - 1 Sept 2016
Squitti R, Siotto M, Arciello M, Rossi L
Abstract excerpt
ATP7B, a protein mainly expressed in the hepatocytes, is a copper chaperone that loads the metal into the serum copper-protein ceruloplasmin during its synthesis and also escorts superfluous copper into the bile, by a sophisticated trafficking mechanism. Impaired function of this ATPase is associated with a well-known inborn error of copper metabolism, Wilson's disease (WD). Several mutations of ATP7B are known,...
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