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pubmed:abstractText |
Progressive familial intrahepatic cholestasis type 1 (PFIC1) is a specific form of genetic cholestasis caused by functional defects in FIC1/ATP8B1. Although the way FIC1 deficiency leads to PFIC1 remains unclear, some reports suggest that the loss of FIC1 function results in decreased activity of the farnesoid X receptor (FXR) in PFIC1 patients. In this study, in order to elucidate the molecular mechanism of the pathogenesis of PFIC1, we constructed an experimental system for the evaluation of FIC1-mediated stimulatory effects on FXR activity.
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pubmed:affiliation |
Department of Pharmacy, The University of Tokyo Hospital, Faculty of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo 113-8655, Japan.
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