Articles with "abcb4 missense" as a keyword



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

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Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24021236

Abstract: 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… read more here.

Keywords: ivacaftor mediated; abcb4; abcb4 missense; ivacaftor ... See more keywords