PMID: 21275046

Noy E, Senderowitz H
Combating cystic fibrosis: in search for CF transmembrane conductance regulator (CFTR) modulators.
ChemMedChem. 2011 Feb 7;6(2):243-51. doi: 10.1002/cmdc.201000488. Epub 2011 Jan 14., 2011-02-07 [PubMed]
Sentences
No. Mutations Sentence Comment
14 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:14:66
status: NEW
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Another common mutation is glycine- to-aspartate at position 551 (G551D) in the signature motif of NBD1. Login to comment
19 ABCC7 p.Trp1282*
X
ABCC7 p.Trp1282* 21275046:19:91
status: NEW
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ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 21275046:19:81
status: NEW
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Class I mutations are found in ~10% of CF patients, and the most common ones are G542X and W1282X, the latter being particularly common in Ashkenazi Jews. Login to comment
38 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:38:162
status: NEW
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Vertex Pharmaceuticals developed VX-770, an orally bioavailable potentiator that is currently being evaluated in phase 3 clinical trials in patients carrying the G551D mutation and in patients homozygote for the DF508 mutation. Login to comment
71 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:71:200
status: NEW
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Secondary analysis and testing of over 1000 structural analogues yielded two novel classes of potentiators, phenylglycines and sulfonamides, with nanomolar potency that were active in human DF508 and G551D-CFTR expressing cells. Login to comment
93 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:93:91
status: NEW
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Springsteel et al.[41] used a series of 77 benzoflavone analogues to examine activation of G551D-CFTR and formulated a four-point pharmacophore featuring a hydrogen-bond acceptor, an aromatic ring and two hydrophobic groups. Login to comment
96 ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:96:62
status: NEW
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ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:96:173
status: NEW
view ABCC7 p.Gly551Asp details
ABCC7 p.Gly551Asp
X
ABCC7 p.Gly551Asp 21275046:96:174
status: NEW
view ABCC7 p.Gly551Asp details
While P-ATP and dATP were found to potentiate the activity of G551D-CFTR by approximately sevenfold and eightfold, respectively, the chimeric ligand was found to potentiate G551D-CFTR by 36-fold, mainly by prolonging the open time of the channel. Login to comment