PhysiologybioRxivPreprint
Impaired transitioning of the FXR ligand binding domain to an active state underlies an FXR-associated PFIC phenotype
Annika Behrendt, Alex Bastianelli, Jan Stindt…·Holger 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.
DOI 10.1101/2024.02.08.579530