Impaired transitioning of the FXR ligand binding domain to an active state underlies an FXR-associated PFIC phenotype
Annika Behrendt, Alex Bastianelli, Jan Stindt, Eva-Doreen Pfister, Malte Sgodda, Tobias Cantz, Sebastian Hook, Kathrin Grau, Stefanie Brands, Carola Dröge, Amelie Stalke, Michele Bonus, Sabine Franke, Ulrich Baumann, Verena Keitel, 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.
bioRxiv · Feb 8, 2024 · PreprintPhysiology