Research progress in diseases associated with genetic variants of GATOR1 complex / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 887-891, 2023.
Artigo
em Chinês
| WPRIM
| ID: wpr-981842
ABSTRACT
The GATOR1 complex is located at the upstream of the mTOR signal pathway and can regulate the function of mTORC1. Genetic variants of the GATOR1 complex are closely associated with epilepsy, developmental delay, cerebral cortical malformation and tumor. This article has reviewed the research progress in diseases associated with genetic variants of the GATOR1 complex, with the aim to provide a reference for the diagnosis and treatment of such patients.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Transdução de Sinais
/
Proteínas Ativadoras de GTPase
/
Epilepsia
/
Alvo Mecanístico do Complexo 1 de Rapamicina
/
Neoplasias
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Artigo
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