ABCMdb

PMID: 23983009

Devesa I, Fernandez-Ballester G, Ferrer-Montiel A
Targeting protein-protein interactions to rescue Deltaf508-cftr: a novel corrector approach to treat cystic fibrosis.
EMBO Mol Med. 2013 Oct;5(10):1462-4. doi: 10.1002/emmm.201303301. Epub 2013 Aug 27., [PubMed]

Sentences

No. Mutations Sentence Comment

6 ABCC7 p.Gly551Asp ABCC7 p.Arg117His ABCC7 p.Trp1282* ABCC7 p.Arg553* ABCC7 p.Gly542* The CF phenotype is caused by more than 1000 mutations of the CFTR gene including missense, such as R117H or G551D that significantly reduce channel activity, and nonsense like G542X, R553X or W1282X, which abrogate protein expression (Kreindler, 2010). Login to comment 22 ABCC7 p.Gly551Asp Noteworthy, in a proofߚofߚconcept clinical trial with 39 patients carrying the G551D mutation, Ivacaftor administered orally exhibited a withinߚsubject improvement in CFTR markers and lung function, suggesting that potentiators may be a viable therapeutic approach for the treatment of at least some CF patients (Accurso et al, 2010). Login to comment