Antisense oligonucleotide exon-skipping as a therapeutic approach for Mucolipidosis type II α/β: in vitro and in vivo studies

Mucolipidosis type II α/β (ML II α/β) is one of the most severe Lysosomal Storage Disorders and is caused by the deficiency of the enzyme GlcNAc-1-phosphotransferase. This enzyme is responsible for the addition of the mannose 6-phosphate marker to lysosomal enzymes, which allow their targeting to ly...

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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
Mucolipidose tipo II
Online Access:http://hdl.handle.net/10400.18/8189
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8189

Internet

http://hdl.handle.net/10400.18/8189

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