Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II

Mucopolysaccharidosis type II (MPS II) results from the dysfunction of a lysosomal enzyme, iduronate-2-sulfatase (IDS). Dysfunction of IDS triggers the lysosomal accumulation of its substrates, glycosaminoglycans, leading to mental retardation and systemic symptoms including skeletal deformities and...

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Detalles Bibliográficos
Autores principales: Matsuhisa, Koji, Imaizumi, Kazunori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618218/
https://www.ncbi.nlm.nih.gov/pubmed/34830113
http://dx.doi.org/10.3390/ijms222212227

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8618218/
https://www.ncbi.nlm.nih.gov/pubmed/34830113
http://dx.doi.org/10.3390/ijms222212227

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