Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome

Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome

Exploring non-coding regions is increasingly gaining importance in the diagnosis of inherited retinal dystrophies. Deep-intronic variants causing aberrant splicing have been identified, prompting the development of antisense oligonucleotides (ASOs) to modulate splicing. We performed a screening of f...

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Main Authors: Belén García-Bohórquez, Pilar Barberán-Martínez, Elena Aller, Teresa Jaijo, Pablo Mínguez, Cristina Rodilla, Lidia Fernández-Caballero, Fiona Blanco-Kelly, Carmen Ayuso, Alba Sanchis-Juan, Sanne Broekman, Erik de Vrieze, Erwin van Wijk, Gema García-García, José M. Millán
Format: Article
Language:English
Published: Elsevier 2024-12-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
MT: Oligonucleotides: Therapies and Applications
Usher syndrome
USH2A
non-coding regions
deep-intronic
splicing
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253124002610
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