Article
The delta F508 mutation decreases the stability of cystic fibrosis transmembrane conductance regulator in the plasma membrane. Determination of functional half-lives on transfected cells.
The Journal of biological chemistry - 15 Oct 1993
Lukacs G L, Chang X B, Bear C, Kartner N, Mohamed A, Riordan J R, Grinstein S
Abstract excerpt
Deletion of the phenylalanine at position 508 of the cystic fibrosis transmembrane conductance regulator (CFTR) is the most prevalent mutation in cystic fibrosis (CF). This mutation (delta F508CFTR) leads to a reduced cAMP-sensitive Cl- conductance in epithelial cells. While the mutant protein can function as a Cl- channel, it seems to be misprocessed and unable to accumulate at normal levels in the plasma...
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