ABCB4 disease-causing variants S242R, S346I, T437I and T1077M significantly impair its function and display differential sensitivity to potentiators

Abstract The hepato-canalicular adenosine triphosphate (ATP)-binding cassette transporter ABCB4/MDR3 is responsible of the secretion of phosphatidylcholine (PC) into bile. Variations in ABCB4 gene induce a spectrum of cholestatic liver diseases, the most severe form is progressive familial intrahepa...

Descrición completa

Detalles Bibliográficos

Principais autores:	Claire Madry, Ahmad Elbahnsi, Jean-Louis Delaunay, Anne Stary, Sylvie Lagaye, Philippe Couvert, Christophe Corpechot, Sara Lemoinne, Nicolas Chignard, Benjamin Boucherle, Jérémie Gautheron, Jean-Luc Décout, Isabelle Callebaut, Tounsia Aït-Slimane
Formato:	Artigo
Idioma:	Inglês
Publicado:	Nature Portfolio 2025-11-01
Series:	Scientific Reports
Assuntos:	ABC transporters Cholestatic liver disease Molecular dynamics Ivacaftor SBC219 Targeted pharmacotherapy
Acceso en liña:	https://doi.org/10.1038/s41598-025-28407-6
Tags:	Engadir etiqueta Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!