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...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:J Cyst Fibros
Huvudupphovsmän: Mutyam, Venkateshwar, Libby, Emily Falk, Peng, Ning, Hadjiliadis, Denis, Bonk, Michael, Solomon, George M., Rowe, Steven M.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2016
Ämnen:
Article
Länkar: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
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk