QR Kodea

Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy

Abstract The GLUL gene encodes glutamine synthetase (GS), which plays a crucial role in glutamine–glutamate homeostasis. Both loss-of-function and gain-of-function variants of GLUL are known to cause genetic disorders in humans. Biallelic loss-of-function variants cause congenital glutamine deficien...

Deskribapen osoa

Gorde:
Egile Nagusiak: Dong Eon Oh, Se Song Jang, Woo Joong Kim, Soo Yeon Kim, Byung Chan Lim, Ki Joong Kim, Seungbok Lee, Jong-Hee Chae
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Nature Portfolio 2025-10-01
Saila:Scientific Reports
Gaiak:
GLUL
Glutamine synthetase
Start-loss
N-terminal degron
Epilepsy
Developmental delay
Sarrera elektronikoa:https://doi.org/10.1038/s41598-025-19666-4
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak