Advances in genetics research in the pathogenesis of amyotrophic lateral sclerosis / 中南大学学报(医学版)
Journal of Central South University(Medical Sciences)
;
(12): 1483-1489, 2020.
Artigo
em Inglês
| WPRIM
| ID: wpr-880611
ABSTRACT
Amyotrophic lateral sclerosis (ALS) is a rare neurodegenerative disease affecting the upper and lower motor neurons. It is characterized by progressive muscle weakness, atrophy and ultimate death due to dysphagia and dyspnea. There are many causes of ALS, among which the genetic factors show great relevance. Imbalance of protein homeostasis in neurons, prion-like proliferation and propagation of abnormal proteins, mitochondrial dysfunction, glutamate mediated excitotoxicity, and intraneuronal substance transport disorders are recognized as the pathogenesis.The study on gene mutation related to pathogenesis will bridge the molecular and cellular research of ALS, which can deepen the understanding of the occurrence and development of ALS and the role of gene mutation in ALS, and provide new ideas and enlightenment for the treatment of ALS.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Proteínas
/
Doenças Neurodegenerativas
/
Esclerose Lateral Amiotrófica
/
Neurônios Motores
/
Mutação
Tipo de estudo:
Estudo de etiologia
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Central South University(Medical Sciences)
Ano de publicação:
2020
Tipo de documento:
Artigo
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