Functional rescue of an ABCB11 mutant by ivacaftor: A new targeted pharmacotherapy approach in bile salt export pump deficiency.

Elodie Mareux Martine LapalusRachida AmzalMarion AlmesTounsia Aït-Slimane Jean-Louis DelaunayPauline AdnotMauricette Collado-HillyAnne Davit-Spraul Thomas Falguières Isabelle Callebaut Emmanuel M Gonzales Emmanuel Jacquemin

Published in: Liver international : official journal of the International Association for the Study of the Liver (2020)

These results provide experimental evidence of ivacaftor therapeutic potential for selected patients with PFIC2 caused by ABCB11 missense mutations affecting BSEP function. This could represent a significant step forward for the care of patients with BSEP deficiency.

Keyphrases

cystic fibrosis
healthcare
replacement therapy
intellectual disability
quality improvement
cancer therapy
wild type
chronic pain
autism spectrum disorder