Splicing therapeutics for patients affected by lysosomal storage disorders

In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC. In another approach using an antisense oligonucleotide (AO) we have succe...

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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: Gonçalves, Vânia (author), Canals, Isaac (author), Jordan, Peter (author), Grinberg, Daniel (author), Pérez, Belén (author), Prata, Maria João (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2018
Subjects:
Lysosomal Storage Disorders
Splicing Therapies
Doenças Genéticas
Online Access:http://hdl.handle.net/10400.18/5489
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/5489
Description
Summary:In this study, we have used a modified U1 snRNA that completely matches the splice donor site of HGSNAT gene exon 2, which corrected the effect of the common 5’ splice site mutation c.234+1G>A in Mucopolysaccharidosis IIIC. In another approach using an antisense oligonucleotide (AO) we have succeeded in the correction of the c.66G>A splicing mutation in CSTB gene (Unverricht–Lundborg disease). Besides that, we have performed the functional analysis of some IDS gene splicing mutations (Mucopolysaccharidosis II) and used AOs to exploit an alternative therapy for one of those mutations (c.1122C>T on exon 8).

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