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

Mucolipidosis type II alpha/beta (ML II alpha/beta) 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 t...

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Detalhes bibliográficos
Autor principal: Matos, Liliana (author)
Outros Autores: Gonçalves, Mariana (author), Santos, Juliana Inês (author), Coutinho, Maria Francisca (author), Prata, Maria João (author), Pires, Maria João (author), Oliveira, Paula (author), Alves, Sandra (author)
Formato: conferenceObject
Idioma:eng
Publicado em: 2022
Assuntos:
Doenças Genéticas
Genética Humana
Doenças Lisossomais de Sobrecarga
Mucolipidose tipo II
Texto completo:http://hdl.handle.net/10400.18/8227
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/8227

Texto Completo

http://hdl.handle.net/10400.18/8227

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