From CFTR biology toward combinatorial pharmacotherapy: expanded classification of cystic fibrosis mutations

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 epitheli...

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Veröffentlicht in:	Molecular biology of the cell 2016-02, Vol.27 (3), p.424-433
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals Chloride Channel Agonists - pharmacology Chloride Channel Agonists - therapeutic use Cystic Fibrosis - classification Cystic Fibrosis - drug therapy Cystic Fibrosis - genetics Cystic Fibrosis Transmembrane Conductance Regulator - agonists Cystic Fibrosis Transmembrane Conductance Regulator - genetics Genetic Predisposition to Disease Humans Ion Channel Gating MBoC on Cell Biology and Human Health Mutation, Missense
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