Altered hepatobiliary gene expressions in PFIC1: ATP8B1 gene defect is associated with CFTR downregulation
Christine Demeilliers, Emmanuel Jacquemin, Véronique Barbu, Martine Mergey, François Paye, Laura Fouassier, Nicolas Chignard, Chantal Housset, Nour‐Eddine Lomri – 20 April 2006 – Recent reports in patients with PFIC1 have indicated that a gene defect in ATP8B1 could cause deregulations in bile salt transporters through decreased expression and/or activity of FXR. This study aimed to: (1) define ATP8B1 expression in human hepatobiliary cell types, and (2) determine whether ATP8B1 defect affects gene expressions related to bile secretion in these cells.