Impaired transitioning of the FXR ligand binding domain to an active state underlies an FXR-associated PFIC phenotype
A. Behrendt, A. Bastianelli, J. Stindt, E.-D. Pfister, M. Sgodda, T. Cantz, S. Hook, K. Grau, S. Brands, C. Droege, A. Stalke, M. Bonus, S. Franke, U. Baumann, V. Keitel, H. Gohlke
This study identifies a missense variant in FXR that impairs its conformational transition to an active state, leading to reduced BSEP expression and a PFIC phenotype.
bioRxiv · Feb 8, 2024 · PreprintPhysiology