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

Internet

http://hdl.handle.net/10400.18/5489

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