A farnesoid X receptor T296I variant disrupts ligand-induced FXR activation and thus bile acid transport in progressive familial intrahepatic cholestasis.
法尼醇 X 受体 T296I 变体破坏配体诱导的 FXR 激活，从而破坏进行性家族性肝内胆汁淤积症中的胆汁酸转运。
期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1016/j.jbc.2025.110769
Behrendt Annika, Bastianelli Alex, Stindt Jan, Pfister Eva-Doreen, Sgodda Malte, Cantz Tobias, Hook Sebastian, Gopalswamy Mohanraj, Grau Kathrin, Brands Stefanie, Dröge Carola, Stalke Amelie, Bonus Michele, Franke Sabine, Baumann Ulrich, Keitel Verena, Gohlke Holger
