Article
Rescue of common exon-skipping mutations in cystic fibrosis with modified U1 snRNAs.
Human mutation - 1 Dec 2020
Donegà Stefano, Rogalska Malgorzata Ewa, Pianigiani Giulia, Igreja Susana, Amaral Margarida Duarte, Pagani Franco
Abstract excerpt
In cystic fibrosis (CF), the correction of splicing defects represents an interesting therapeutic approach to restore normal CFTR function. In this study, we focused on 10 common mutations/variants 711+3A>G/C, 711+5G>A, TG13T3, TG13T5, TG12T5, 1863C>T, 1898+3A>G, 2789+5G>A, and 3120G>A that induce skipping of the corresponding CFTR exons 5, 10, 13, 16, and 18. To rescue the splicing defects we tested, in a...
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