ABCMdb

PMID: 18047735

Turnbull EL, Rosser MF, Cyr DM
The role of the UPS in cystic fibrosis.
BMC Biochem. 2007 Nov 22;8 Suppl 1:S11., [PubMed]

Sentences

No. Mutations Sentence Comment

34 ABCC7 p.Asn1303Lys ABCC7 p.Gly85Glu ABCC7 p.Gly91Arg Other identified class II disease-causing mutations in CFTR include N1303K, G85E and G91R [18]. Login to comment 36 ABCC7 p.Gly85Glu ABCC7 p.Gly91Arg The exact mechanism by which these mutations disrupt folding is not completely clear [21], but both the G85E and G91R mutations have been shown to affect folding due to the insertion of a charged residue in the plane of the lipid bilayer [9]. Login to comment 141 ABCC7 p.Pro574His ABCC7 p.Asn1303Lys Promisingly, the activities of 'Corr` correctors are specific for ΔF508 CFTR in HBE cells and did not affect the CFTR mutants P574H or N1303K, or the dopamine receptor mutant [82]. Login to comment 145 ABCC7 p.Gly551Asp For example, the potentiator VRT-532 was able to potentiate ion channel activity in the CFTR mutants ΔF508 and G551D, inferring its potential as a drug treatment for CF patients in combination with VRT-325 [81]. Login to comment