Functional Defect of Variants in the Adenosine Triphosphate-binding Sites of ABCB4 and Their Rescue by the Cystic Fibrosis Transmembrane Conductance Regulator Potentiator, Ivacaftor (VX-770)

Conclusion: Disease-causing variations in the ATP-binding sites of ABCB4 cause defects in PC secretion, which can be rescued by ivacaftor. These results provide the first experimental evidence that ivacaftor is a potential therapy for selected patients who harbor mutations in the ATP-binding sites of ABCB4. (Hepatology 2017;65:560-570).