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

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• 作者：D.D. Zomer-van Ommen^a ; ¹ ; L.A.W. Vijftigschild^a ; ¹ ; E. Kruisselbrink^a ; A.M. Vonk^a ; J.F. Dekkers^a ; H.M. Janssens^c ; K.M. de Winter-de Groot^b ; C.K. van der Ent^b ; J.M. Beekman^a ; ^b ; ^{J.Beekman@umcutrecht.nl" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Nonsense suppression ; Intestinal organoids ; G418 ; PTC124 ; Cystic fibrosis ; Read-through
• 刊名：Journal of Cystic Fibrosis
• 出版年：2016
• 出版时间：March 2016
• 年：2016
• 卷：15
• 期：2
• 页码：158-162
• 全文大小：542 K

文摘

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.