ABCMdb

PMID: 26142488

Pibiri I, Lentini L, Melfi R, Gallucci G, Pace A, Spinello A, Barone G, Di Leonardo A
Enhancement of premature stop codon readthrough in the CFTR gene by Ataluren (PTC124) derivatives.
Eur J Med Chem. 2015 Aug 28;101:236-44. doi: 10.1016/j.ejmech.2015.06.038. Epub 2015 Jun 21., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC7 p.Gly542* The most commonly observed mutations include three base pair deletion causing the loss of phenylalanine at position 508 (delta-F508), a missense mutation at position 551 and a nonsense mutation at position 542 (G542X) known as a class I mutation type. Login to comment 40 ABCC7 p.Trp1282* Most active compounds were further tested with a green fluorescent protein (GFP) based reporter and evaluated for the suppression of nonsense mutations in the CFTR gene in the human bronchial epithelial cell line IB3.1 (CFTR genotype W1282X/F508del). Login to comment 199 ABCC7 p.Trp1282* Since compounds 4a and 5b,i performed well in both Fluc and GFP reporters, we tested them for nonsense suppression in CF bronchial epithelial cell line IB3.1 derived from a CF patient (CFTR genotype W1282X/F508del). Login to comment 256 ABCC7 p.Trp1282* Treatment of IB3.1 cells with compounds 4a, 5b, and 5i induced the readthrough of the premature translation termination codon encoded by the hCFTR-W1282X nonsense mutation present in these cells, resulting in the partial restoration of the CFTR protein. Login to comment