ABCMdb

PMID: 16472777

Nguyen TD, Kim US, Perrine SP
Novel short chain fatty acids restore chloride secretion in cystic fibrosis.
Biochem Biophys Res Commun. 2006 Mar 31;342(1):245-52. Epub 2006 Feb 3., [PubMed]

Sentences

No. Mutations Sentence Comment

29 ABCC7 p.Trp1282* ABCC7 p.Trp1282* Airway IB3-1 cells, compound heterozygotes for the CFTR mutations DF508 and W1282X, were used as in vitro model for DF508-CFTR correction since the W1282X mutation results in a truncated protein that is not expressed [8]. Login to comment 31 ABCC7 p.Trp1282* Gentamycin (and amphotericin B contained in the same mixture) was omitted from the culture medium when the effect of aminoglycosides on the W1282X mutation was studied. Login to comment 74 ABCC7 p.Trp1282* ABCC7 p.Trp1282* Because IB3-1 cells are DF508/W1282X compound heterozygotes for the CFTR gene, effects of SCFAD on the W1282X mutation rather than the DF508-CFTR should be considered. Login to comment 136 ABCC7 p.Trp1282* However, because these cells are compound heterozygotes for W1282X, a premature CFTR stop mutation that can be suppressed with aminoglycosides, a possible SCFAD effect on this mutation was considered [11]. Login to comment 139 ABCC7 p.Trp1282* However, the much smaller response observed with W1282X-CFTR read-through, as induced by aminoglycosides, suggests that the larger response observed with SCFAD is mediated via DF508-CFTR correction, as previously asserted [2,3]. Login to comment