ABCMdb

PMID: 17579582

Limberis MP, Figueredo J, Calcedo R, Wilson JM
Activation of CFTR-specific T Cells in cystic fibrosis mice following gene transfer.
Mol Ther. 2007 Sep;15(9):1694-700. Epub 2007 Jun 19., [PubMed]

Sentences

No. Mutations Sentence Comment

16 ABCC7 p.Gly542* The first set of studies attempted to model the consequences of in vivo gene transfer in recipients void of CFTR -expression such as in those with two Class I CFTR gene -mutations, with CFTR being either deleted or substantially truncated (i.e., G542X).16 This clinical situation was modeled by delivering an adenovirus vector expressing hCFTR into mice homozygous for the germ line interruption of CFTR. Login to comment 133 ABCC7 p.Gly542* The most common Class I CFTR mutation, which is also the next-to-most frequent mutation in Caucasian populations, is G542X.25 The premature stop codon in this CFTR mutation leads to the production of a truncated non-functional CFTR protein25 resulting in a significant repertoire of CFTR-specific T cells that escape central tolerance and are at risk of activation in the setting of CFTR gene therapy. Login to comment 250 ABCC7 p.Trp1282* Association of a nonsense mutation (W1282X), the most common mutation in the Ashkenazi Jewish cystic fibrosis patients in Israel, with presentation of severe disease. Login to comment 286 ABCC7 p.Trp1282* ABCC7 p.Gly542* CFTR nonsense mutations G542X and W1282X associated with severe reduction of CFTR mRNA in nasal epithelial cells. Login to comment