Article
Some gating potentiators, including VX-770, diminish ΔF508-CFTR functional expression.
Science translational medicine - 23 Jul 2014
Veit Guido, Avramescu Radu G, Perdomo Doranda, Phuan Puay-Wah, Bagdany Miklos, Apaja Pirjo M, Borot Florence, Szollosi Daniel, Wu Yu-Sheng, Finkbeiner Walter E, Hegedus Tamas, Verkman Alan S, Lukacs Gergely L
Abstract excerpt
Cystic fibrosis (CF) is caused by mutations in the CF transmembrane regulator (CFTR) that result in reduced anion conductance at the apical membrane of secretory epithelia. Treatment of CF patients carrying the G551D gating mutation with the potentiator VX-770 (ivacaftor) largely restores channel activity and has shown substantial clinical benefit. However, most CF patients carry the ΔF508 mutation, which impairs...
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