Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

D. D. Zomer-van Ommen; L. A.W. Vijftigschild; E. Kruisselbrink; A. M. Vonk; J. F. Dekkers; H. M. Janssens; K. M. de Winter-de Groot; C. K. van der Ent; J. M. Beekman

doi:10.1016/j.jcf.2015.07.007

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

D. D. Zomer-van Ommen, L. A.W. Vijftigschild, E. Kruisselbrink, A. M. Vonk, J. F. Dekkers, H. M. Janssens, K. M. de Winter-de Groot, C. K. van der Ent, J. M. Beekman

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

40 Citaten (Scopus)

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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	https://doi.org/10.1016/j.jcf.2015.07.007
Status	Gepubliceerd - 1 mrt. 2016
Extern gepubliceerd	Ja

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Zomer-van Ommen, D. D., Vijftigschild, L. A. W., Kruisselbrink, E., Vonk, A. M., Dekkers, J. F., Janssens, H. M., de Winter-de Groot, K. M., van der Ent, C. K., & Beekman, J. M. (2016). Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids. Journal of Cystic Fibrosis, 15(2), 158-162. https://doi.org/10.1016/j.jcf.2015.07.007

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title = "Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids",

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.",

keywords = "Cystic fibrosis, G418, Intestinal organoids, Nonsense suppression, PTC124, Read-through",

author = "{Zomer-van Ommen}, {D. D.} and Vijftigschild, {L. A.W.} and E. Kruisselbrink and Vonk, {A. M.} and Dekkers, {J. F.} and Janssens, {H. M.} and {de Winter-de Groot}, {K. M.} and {van der Ent}, {C. K.} and Beekman, {J. M.}",

note = "Publisher Copyright: {\textcopyright} 2015 European Cystic Fibrosis Society.",

year = "2016",

month = mar,

day = "1",

doi = "10.1016/j.jcf.2015.07.007",

language = "English",

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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.

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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.

KW - Cystic fibrosis

KW - G418

KW - Intestinal organoids

KW - Nonsense suppression

KW - PTC124

KW - Read-through

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U2 - 10.1016/j.jcf.2015.07.007

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SN - 1569-1993

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EP - 162

JO - Journal of Cystic Fibrosis

JF - Journal of Cystic Fibrosis

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ER -

Limited premature termination codon suppression by read-through agents in cystic fibrosis intestinal organoids

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