Genome editing in mucopolysaccharidoses and mucolipidoses.
Prog Mol Biol Transl Sci
; 182: 327-351, 2021.
Article
en En
| MEDLINE
| ID: mdl-34175047
ABSTRACT
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Mucopolisacaridosis
/
Mucolipidosis
Límite:
Animals
/
Humans
Idioma:
En
Revista:
Prog Mol Biol Transl Sci
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2021
Tipo del documento:
Article
País de afiliación:
Brasil