Isolation and Characterization of a Human Liver cDNA as a Candidate Gene for Wilson Disease

Distinct Wilson’s Disease Mutations in ATP7B Are Associated With Enhanced Binding to COMMD1 and Reduced Stability of ATP7B

“…The clinical presentation of WD is highly heterogeneous, and usually includes hepatic and/or neurological abnormalities due to toxic accumulation of copper in the liver and the brain 2 . WD is caused by mutations in the ATP7B gene, which encodes a copper transporting P-type ATPase [3][4][5][6] . ATP7B plays a key role in hepatic copper excretion, by virtue of its ability to transport copper across cellular membranes at the cost of ATP hydrolysis.…”

Dynamic Regulation of Copper Uptake and Detoxification Genes in Saccharomyces cerevisiae

“…It is therefore important that organisms elaborate appropriate mechanisms for uptake and detoxification, as well as possess cellular sensors to ensure that sufficient Cu is present in the cell to drive the essential biochemical processes while preventing its accumulation to toxic levels. The importance of maintaining appropriate intracellular Cu levels is underscored by the existence of two human genetic disorders of Cu homeostasis, Menkes syndrome and Wilson's disease (2,3,43,47). Proper regulation of the Cu homeostatic machinery requires the ability of the Cu ion sensors to detect Cu and respond by appropriately regulating the expression of Cu homeostasis genes in order to maintain the delicate balance between essential and toxic levels.…”

Determination of the frequencies of ten allelic variants of the Wilson disease gene (ATP7B), in pooled DNA samples

“…Furthermore, some patients neither show clinical signs of neurologic dysfunction nor do they have the typical corneal deposits of copper, the so-called Kayser-Fleischer rings. 3 The gene causing Wilson disease was cloned in 1993 [4][5][6] and named ATP7B. The protein encoded by this gene is a copper transporting P-type ATPase, which is predominantly expressed in liver and brain.…”