Article
Small-molecule eRF3a degraders rescue CFTR nonsense mutations by promoting premature termination codon readthrough.
The Journal of clinical investigation - 15 Sept 2022
Lee Rhianna E, Lewis Catherine A, He Lihua, Bulik-Sullivan Emily C, Gallant Samuel C, Mascenik Teresa M, Dang Hong, Cholon Deborah M, Gentzsch Martina, Morton Lisa C, Minges John T, Theile Jonathan W, Castle Neil A, Knowles Michael R, Kimple Adam J, Randell Scott H
Abstract excerpt
The vast majority of people with cystic fibrosis (CF) are now eligible for CF transmembrane regulator (CFTR) modulator therapy. The remaining individuals with CF harbor premature termination codons (PTCs) or rare CFTR variants with limited treatment options. Although the clinical modulator response can be reliably predicted using primary airway epithelial cells, primary cells carrying rare CFTR variants are...
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