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...

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Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Nature Portfolio 2025-11-01
Col·lecció:	Scientific Reports
Matèries:	ABC transporters Cholestatic liver disease Molecular dynamics Ivacaftor SBC219 Targeted pharmacotherapy
Accés en línia:	https://doi.org/10.1038/s41598-025-28407-6
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