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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Veröffentlicht in:	International journal of molecular sciences 2023-01, Vol.24 (2), p.1236
Hauptverfasser:	Delaunay, Jean-Louis, Elbahnsi, Ahmad, Bruneau, Alix, Madry, Claire, Durand-Schneider, Anne-Marie, Stary, Anne, Housset, Chantal, Gautheron, Jérémie, Callebaut, Isabelle, Aït-Slimane, Tounsia
Format:	Artikel
Sprache:	eng
Schlagworte:	ABC transporters Adenosine Triphosphate Amino acids Bile Binding sites Cholestasis Cholestasis, Intrahepatic - drug therapy Cholestasis, Intrahepatic - genetics Disease Drug Repositioning Gallbladder diseases Health services Humans Lecithin Life Sciences Liver Localization Missense mutation Mutation Mutation, Missense Phosphatidylcholine Phosphatidylcholines Structural analysis Transplantation
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