[Research progress in diseases associated with genetic variants of GATOR1 complex].

Yuan, Meng; Luo, Huan; Rao, Xueyi; Gan, Jing

Yuan, Meng; Luo, Huan; Rao, Xueyi; Gan, Jing.

Afiliação

Yuan M; Department of Pediatrics, Key Laboratory of Birth Defects and Related Disease of Women and Children (Sichuan University), the Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, Sichuan 610041, China. gordonrachel@scu.edu.cn.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 40(7): 887-891, 2023 Jul 10.

Article em Zh | MEDLINE | ID: mdl-37368396

ABSTRACT

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.

Assuntos

Epilepsia; Neoplasias; Humanos; Proteínas Ativadoras de GTPase/genética; Proteínas Ativadoras de GTPase/metabolismo; Transdução de Sinais/genética; Alvo Mecanístico do Complexo 1 de Rapamicina/genética; Alvo Mecanístico do Complexo 1 de Rapamicina/metabolismo; Epilepsia/genética

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia / Neoplasias Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: Zh Ano de publicação: 2023 Tipo de documento: Article

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