[HTML][HTML] C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis: a novel class of mutation
M Haardt, M Benharouga, D Lechardeur… - Journal of Biological …, 1999 - ASBMB
Defective cAMP-stimulated chloride conductance of the plasma membrane of epithelial cell
is the hallmark of cystic fibrosis (CF) and results from mutations in the cystic fibrosis
transmembrane conductance regulator, CFTR. In the majority of CF patients, mutations in
the CFTR lead to its misfolding and premature degradation at the endoplasmic reticulum
(ER). Other mutations impair the cAMP-dependent activation or the ion conductance of
CFTR chloride channel. In the present work we identify a novel mechanism leading to …
is the hallmark of cystic fibrosis (CF) and results from mutations in the cystic fibrosis
transmembrane conductance regulator, CFTR. In the majority of CF patients, mutations in
the CFTR lead to its misfolding and premature degradation at the endoplasmic reticulum
(ER). Other mutations impair the cAMP-dependent activation or the ion conductance of
CFTR chloride channel. In the present work we identify a novel mechanism leading to …