Article
In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery.
Human molecular genetics - 15 Jun 2016
Garanto Alejandro, Chung Daniel C, Duijkers Lonneke, Corral-Serrano Julio C, Messchaert Muriël, Xiao Ru, Bennett Jean, Vandenberghe Luk H, Collin Rob W J
Abstract excerpt
Leber congenital amaurosis (LCA) is a severe disorder resulting in visual impairment usually starting in the first year of life. The most frequent genetic cause of LCA is an intronic mutation in CEP290 (c.2991 + 1655A > G) that creates a cryptic splice donor site resulting in the insertion of a pseudoexon (exon X) into CEP290 mRNA. Previously, we showed that naked antisense oligonucleotides (AONs) effectively...
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