Article
Biochemical characterization of P4-ATPase mutations identified in patients with progressive familial intrahepatic cholestasis.
The Journal of biological chemistry - 30 Nov 2012
Stone Alex, Chau Christopher, Eaton Christian, Foran Emily, Kapur Mridu, Prevatt Edward, Belkin Nathan, Kerr David, Kohlin Torvald, Williamson Patrick
Abstract excerpt
Mutations in the P4-ATPase ATP8B1 cause the inherited liver disease progressive familial intrahepatic cholestasis. Several of these mutations are located in conserved regions of the transmembrane domain associated with substrate binding and transport. Assays for P4-ATPase-mediated transport in living yeast cells were developed and used to characterize the specificity and kinetic parameters of this transport....
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