Samenvatting
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.
Originele taal-2 | Engels |
---|---|
Pagina's (van-tot) | 158-162 |
Aantal pagina's | 5 |
Tijdschrift | Journal of Cystic Fibrosis |
Volume | 15 |
Nummer van het tijdschrift | 2 |
DOI's | |
Status | Gepubliceerd - 1 mrt. 2016 |
Extern gepubliceerd | Ja |