Article
Repair of CFTR folding defects with correctors that function as pharmacological chaperones.
Methods in molecular biology (Clifton, N.J.) - 1 Jan 2011
Loo Tip W, Clarke David M
Abstract excerpt
The major cause of cystic fibrosis is the presence of processing mutations in CFTR (such as deletion of Phe-508 (F508del-CFTR)) that disrupt folding of the protein and trafficking to the cell surface. Processing mutations appear to inhibit folding of CFTR so that it accumulates in the endoplasmic reticulum as a partially folded protein. Expressing the proteins in the presence of small molecules called correctors...
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