Mutation-adapted U1snRNA as a therapeutic strategy for Mucopolysaccharidosis IIIC: in vitro and in vivo studies

A significant number of mutations that change the splicing process and lead to aberrant mRNA production have been identified in Lysosomal Storage Disorders (LSDs). Mucopolysaccharidosis type IIIC (MPS IIIC) is a very rare LSD caused by mutations in the HGSNAT gene which encodes an enzyme involved in...

Full description

Bibliographic Details
Main Author: Gonçalves, Mariana (author)
Other Authors: Matos, Liliana (author), Santos, Juliana Inês (author), Coutinho, Maria Francisca (author), Prata, Maria João (author), Pires, Maria João (author), Oliveira, Paula (author), Alves, Sandra (author)
Format: conferenceObject
Language:eng
Published: 2022
Subjects:
Doenças Genéticas
Genética Humana
Doenças Lisossomais de Sobrecarga
Terapias de RNA
MPS IIIC
Online Access:http://hdl.handle.net/10400.18/8194
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8194

Internet

http://hdl.handle.net/10400.18/8194

Similar Items