| Literature DB >> 26255232 |
D D Zomer-van Ommen1, L A W Vijftigschild1, E Kruisselbrink1, A M Vonk1, J F Dekkers1, H M Janssens2, K M de Winter-de Groot3, C K van der Ent3, J M Beekman4.
Abstract
Premature termination codon read-through drugs offer opportunities for treatment of multiple rare genetic diseases including cystic fibrosis. We here analyzed the read-through efficacy of PTC124 and G418 using human cystic fibrosis intestinal organoids (E60X/4015delATTT, E60X/F508del, G542X/F508del, R1162X/F508del, W1282X/F508del and F508del/F508del). G418-mediated read-through induced only limited CFTR function, but functional restoration of CFTR by PTC124 could not be confirmed. These studies suggest that better read-through agents are needed for robust treatment of nonsense mutations in cystic fibrosis.Entities:
Keywords: Cystic fibrosis; G418; Intestinal organoids; Nonsense suppression; PTC124; Read-through
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Year: 2015 PMID： 26255232 DOI： 10.1016/j.jcf.2015.07.007
Source DB: PubMed Journal: J Cyst Fibros ISSN： 1569-1993 Impact factor: 5.482