Genome editing in mucopolysaccharidoses and mucolipidoses.
Gene editing
Genome editing
Mucolipidoses
Mucopolysaccharidoses
Journal
Progress in molecular biology and translational science
ISSN: 1878-0814
Titre abrégé: Prog Mol Biol Transl Sci
Pays: Netherlands
ID NLM: 101498165
Informations de publication
Date de publication:
2021
2021
Historique:
entrez:
27
6
2021
pubmed:
28
6
2021
medline:
26
11
2021
Statut:
ppublish
Résumé
Mucopolysaccharidoses (MPS) and mucolipidoses (ML) are disorders that alter lysosome function. While MPS are caused by mutation in enzymes that degrade glycosaminoglycans, the ML are disorders characterized by reduced function in the phosphotransferase enzyme. Multiple clinical features are associated with these diseases and the exact mechanisms that could explain such different clinical manifestations in patients are still unknown. Furthermore, there are no curative treatment for any of MPS and ML conditions so far. Gene editing holds promise as a tool for the creation of cell and animal models to help explain disease pathogenesis, as well as a platform for gene therapy. In this chapter, we discuss the main studies involving genome editing for MPS and the prospect applications for ML.
Identifiants
pubmed: 34175047
pii: S1877-1173(21)00037-5
doi: 10.1016/bs.pmbts.2021.01.026
pii:
doi:
Substances chimiques
Glycosaminoglycans
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
327-351Informations de copyright
Copyright © 2021 Elsevier Inc. All rights reserved.