Development of an antisense oligonucleotide-mediated exon skipping therapeutic strategy for Mucolipidosis II: validation at RNA level

Lysosomal Storage Disorders (LSDs) are a group of rare inherited metabolic diseases caused by the malfunction of the lysosomal system, which results in the accumulation of undegraded substrates inside the lysosomes and leads to severe and progressive pathology. Despite there is currently a broad und...

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Bibliographic Details
Main Author: Matos, Liliana (author)
Other Authors: Vilela, Regina (author), Rocha, Melissa (author), Santos, Juliana Inês (author), Coutinho, Maria Francisca (author), Gaspar, Paulo (author), Prata, Maria João (author), Alves, Sandra (author)
Format: article
Language:eng
Published: 2021
Subjects:
Lysosomal Storage Disorders
Metabolic Diseases
Mucolipidosis Type II
Splicing Mutations
GNPTAB gene
Antisense Therapy
Doenças Genéticas
Doenças Lisossomais de Sobrecarga
Online Access:http://hdl.handle.net/10400.18/6459
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/6459

Internet

http://hdl.handle.net/10400.18/6459

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