Research advance on the pathogenesis of autosomal recessive spastic ataxia of Charlevoix-Saguenay / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 121-124, 2023.
Article
em Zh
| WPRIM
| ID: wpr-970891
Biblioteca responsável:
WPRO
ABSTRACT
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a rare and early-onset neurodegenerative disease caused by variants of the SACS gene which maps to chromosome 13q11 and encodes sacsin protein. Sacsin is highly expressed in large motor neurons, in particular cerebellar Purkinje cells. This article has provided a review for the structure and function of sacsin protein and the mechanisms underlying abnormalities of sacsin in ARSACS disease.
Texto completo:
1
Índice:
WPRIM
Assunto principal:
Ataxia
/
Ataxias Espinocerebelares
/
Espasticidade Muscular
Limite:
Humans
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Article