TY - JOUR
T1 - Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids
AU - Zomer-van Ommen, D D
AU - Vijftigschild, L A W
AU - Kruisselbrink, E
AU - Vonk, A M
AU - Dekkers, J F
AU - Janssens, H M
AU - de Winter-de Groot, K M
AU - van der Ent, C K
AU - Beekman, J M
AU - van der Ent, CK
N1 - Copyright © 2015 European Cystic Fibrosis Society. Published by Elsevier B.V. All rights reserved.
PY - 2015/8/5
Y1 - 2015/8/5
N2 - 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.
AB - 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.
U2 - 10.1016/j.jcf.2015.07.007
DO - 10.1016/j.jcf.2015.07.007
M3 - Article
C2 - 26255232
SN - 1569-1993
JO - Journal of Cystic Fibrosis
JF - Journal of Cystic Fibrosis
ER -