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) 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...

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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: 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)
Format: conferenceObject
Language:eng
Published: 2022
Subjects:
Mucolipidosis type II
Lysosomal Storage Disorders
Mucolipidose tipo II
Doenças Lisossomais de sobrecarga
Doenças Genéticas
Genética Humana
Online Access:http://hdl.handle.net/10400.18/7989
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/7989

Internet

http://hdl.handle.net/10400.18/7989

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