Article
Null mutation of the murine ATP7B (Wilson disease) gene results in intracellular copper accumulation and late-onset hepatic nodular transformation.
Human molecular genetics - 1 Sept 1999
Buiakova O I, Xu J, Lutsenko S, Zeitlin S, Das K, Das S, Ross B M, Mekios C, Scheinberg I H, Gilliam T C
Abstract excerpt
The Atp7b protein is a copper-transporting ATPase expressed predominantly in the liver and to a lesser extent in most other tissues. Mutations in the ATP7B gene lead to Wilson disease, a copper toxicity disorder characterized by dramatic build-up of intracellular hepatic copper with subsequent hepatic and neuro-logical abnormalities. Using homologous recombination to disrupt the normal translation of ATP7B, we...
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