Article
From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations.
Molecular biology of the cell - 1 Feb 2016
Veit Gudio, Avramescu Radu G, Chiang Annette N, Houck Scott A, Cai Zhiwei, Peters Kathryn W, Hong Jeong S, Pollard Harvey B, Guggino William B, Balch William E, Skach William R, Cutting Garry R, Frizzell Raymond A, Sheppard David N, Cyr Douglas M, Sorscher Eric J, Brodsky Jeffrey L, Lukacs Gergely L
Abstract excerpt
More than 2000 mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) have been described that confer a range of molecular cell biological and functional phenotypes. Most of these mutations lead to compromised anion conductance at the apical plasma membrane of secretory epithelia and cause cystic fibrosis (CF) with variable disease severity. Based on the molecular phenotypic complexity of...
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