Therapeutic benefit observed with the CFTR potentiator, ivacaftor, in a CF patient homozygous for the W1282X CFTR nonsense mutation

Premature termination codons (PTCs) in cystic fibrosis transmembrane conductance regulator (CFTR) gene result in nonfunctional CFTR protein and are the proximate cause of ~11% of CF causing alleles. Aminoglycosides and other novel agents are known to induce translational readthrough of PTCs, a poten...

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Vydáno v:J Cyst Fibros
Hlavní autoři: Mutyam, Venkateshwar, Libby, Emily Falk, Peng, Ning, Hadjiliadis, Denis, Bonk, Michael, Solomon, George M., Rowe, Steven M.
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5241185/
https://ncbi.nlm.nih.gov/pubmed/27707539
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jcf.2016.09.005
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