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.
Article
in Chinese
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Signal Transduction
/
GTPase-Activating Proteins
/
Epilepsy
/
Mechanistic Target of Rapamycin Complex 1
/
Neoplasms
Limits:
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2023
Type:
Article
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