Article
Molecular mechanistic explanation for the spectrum of cholestatic disease caused by the S320F variant of ABCB4.
Hepatology (Baltimore, Md.) - 1 May 2014
Andress Edward J, Nicolaou Michael, Romero Marta R, Naik Sandhia, Dixon Peter H, Williamson Catherine, Linton Kenneth J
Abstract excerpt
UNLABELLED: ABCB4 flops phosphatidylcholine into the bile canaliculus to protect the biliary tree from the detergent activity of bile salts. Homozygous-null ABCB4 mutations cause the childhood liver disease, progressive familial intrahepatic cholestasis, but cause and effect is less clear, with many missense mutations linked to less severe cholestatic diseases. ABCB4(S320F), in particular, is described in 13...
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