Article
The cystic fibrosis-causing mutation deltaF508 affects multiple steps in cystic fibrosis transmembrane conductance regulator biogenesis.
The Journal of biological chemistry - 12 Nov 2010
Thibodeau Patrick H, Richardson John M, Wang Wei, Millen Linda, Watson Jarod, Mendoza Juan L, Du Kai, Fischman Sharon, Senderowitz Hanoch, Lukacs Gergely L, Kirk Kevin, Thomas Philip J
Abstract excerpt
The deletion of phenylalanine 508 in the first nucleotide binding domain of the cystic fibrosis transmembrane conductance regulator is directly associated with >90% of cystic fibrosis cases. This mutant protein fails to traffic out of the endoplasmic reticulum and is subsequently degraded by the proteasome. The effects of this mutation may be partially reversed by the application of exogenous osmolytes,...
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