Research progress in diseases associated with genetic variants of GATOR1 complex.
10.3760/cma.j.cn511374-20220530-00368
- Author:
Meng YUAN
1
;
Huan LUO
;
Xueyi RAO
;
Jing GAN
Author Information
1. 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.
- Publication Type:Journal Article
- MeSH:
Humans;
GTPase-Activating Proteins/metabolism*;
Signal Transduction/genetics*;
Mechanistic Target of Rapamycin Complex 1/metabolism*;
Epilepsy/genetics*;
Neoplasms
- From:
Chinese Journal of Medical Genetics
2023;40(7):887-891
- CountryChina
- Language:Chinese
-
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.
