Article
Physiological and pharmacological characterization of the N1303K mutant CFTR.
Journal of cystic fibrosis : official journal of the European Cystic Fibrosis Society - 1 Sept 2018
DeStefano Samantha, Gees Maarten, Hwang Tzyh-Chang
Abstract excerpt
BACKGROUND: N1303K, one of the common, severe disease-causing mutations in the CFTR gene, causes both defective biogenesis and gating abnormalities of the CFTR protein. The goals of the present study are to quantitatively assess the gating defects associated with the N1303K mutation and its pharmacological response to CFTR modulators including potentiators VX-770 and GLPG1837 and correctors VX-809, and VX-661....
Topics
- Adenosine Triphosphate
- Aminophenols
- Aminopyridines
- Animals
- Benzodioxoles
- Blotting, Western
- CHO Cells
- Chloride Channel Agonists
- Cricetinae
- Cricetulus
- Cystic Fibrosis Transmembrane Conductance Regulator
- Indoles
- Ion Channel Gating
- Mutant Proteins