A systems approach implicates nuclear receptor targeting in the Atp7b(-/-) mouse model of Wilson's disease.

ABSTRACT: Wilson's disease (WD) is an inherited disorder of copper metabolism characterized by liver disease and/or neurologic and psychiatric pathology. The disease is a result of mutation in ATP7B, which encodes the ATP7B copper transporting ATPase. Loss of copper transport function by ATP7B results in copper accumulation primarily in the liver, but also in other organs including the brain. Studies in the Atp7b(-/-) mouse model of WD revealed specific transcript and metabolic changes that precede development of liver pathology, most notably downregulation of transcripts in the cholesterol biosynthetic pathway. In order to gain insight into the molecular mechanisms of transcriptomic and metabolic changes, we used a systems approach analysing the pre-symptomatic hepatic nuclear proteome and liver me

SUBMITTER: Wilmarth PA 

PROVIDER: S-EPMC3695828 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature