Ivacaftor-Mediated Potentiation of ABCB4 Missense Mutations Affecting Critical Motifs of the NBDs: Repositioning Perspectives for Hepatobiliary Diseases

ABCB4 (ATP-binding cassette subfamily B member 4) is a hepatocanalicular floppase involved in biliary phosphatidylcholine (PC) secretion. Variations in the ABCB4 gene give rise to several biliary diseases, including progressive familial intrahepatic cholestasis type 3 (PFIC3), an autosomal recessive...

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Detalles Bibliográficos
Autores principales: Delaunay, Jean-Louis, Elbahnsi, Ahmad, Bruneau, Alix, Madry, Claire, Durand-Schneider, Anne-Marie, Stary, Anne, Housset, Chantal, Gautheron, Jérémie, Callebaut, Isabelle, Aït-Slimane, Tounsia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9867378/
https://www.ncbi.nlm.nih.gov/pubmed/36674751
http://dx.doi.org/10.3390/ijms24021236

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9867378/
https://www.ncbi.nlm.nih.gov/pubmed/36674751
http://dx.doi.org/10.3390/ijms24021236

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