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Folding Defects in P-Type Atp 8B1 Associated With Hereditary Cholestasis Are Ameliorated by 4-Phenylbutyrate

4 Sept 2009

Abstract excerpt

UNLABELLED: Deficiency in P-type ATP8B1 is a severe and clinically highly variable hereditary disorder that is primarily characterized by intrahepatic cholestasis. It presents either as a progressive (progressive familial intrahepatic cholestasis type 1 [PFIC1]) or intermittent (benign recurrent intrahepatic cholestasis type 1 [BRIC1]) disease. ATP8B1 deficiency is caused by autosomal recessive mutations in the...

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PMID: 19918981
DOI: 10.1002/hep.23268

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