Article
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
JCI insight - 26 Jul 2018
Han Sangwoo T, Rab Andras, Pellicore Matthew J, Davis Emily F, McCague Allison F, Evans Taylor A, Joynt Anya T, Lu Zhongzhou, Cai Zhiwei, Raraigh Karen S, Hong Jeong S, Sheppard David N, Sorscher Eric J, Cutting Garry R
Abstract excerpt
Treatment of individuals with cystic fibrosis (CF) has been transformed by small molecule therapies that target select pathogenic variants in the CF transmembrane conductance regulator (CFTR). To expand treatment eligibility, we stably expressed 43 rare missense CFTR variants associated with moderate CF from a single site in the genome of human CF bronchial epithelial (CFBE41o-) cells. The magnitude of drug...
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