AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

Leber congenital amaurosis (LCA) is a severe hereditary retinal dystrophy responsible for congenital or early-onset blindness. The most common disease-causing mutation (>10%) is located deep in intron 26 of the CEP290 gene (c.2991+1655A>G). It creates a strong splice donor site that leads to i...

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Bibliographic Details
Main Authors: Xavier Gerard, Isabelle Perrault, Sylvain Hanein, Eduardo Silva, Karine Bigot, Sabine Defoort-Delhemmes, Marlèene Rio, Arnold Munnich, Daniel Scherman, Josseline Kaplan, Antoine Kichler, Jean-Michel Rozet
Format: Article
Language:English
Published: Elsevier 2012-01-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
antisense oligonucleotide
CEP290
ciliogenesis repair
LCA
splice switching-mediated therapy
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253116300853

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http://www.sciencedirect.com/science/article/pii/S2162253116300853

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