Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy [PDF]
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.
Dong Eon Oh +7 more
doaj +7 more sources
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL [PDF]
Summary: Bi-allelic variants in GLUL, encoding glutamine synthetase and responsible for the conversion of glutamate to glutamine, are associated with a severe recessive disease due to glutamine deficiency.
Elizabeth Carbonell +9 more
doaj +6 more sources
GLUL stabilizes N-Cadherin by antagonizing β-Catenin to inhibit the progresses of gastric cancer
Glutamate-ammonia ligase (GLUL, also known as glutamine synthetase) is a crucial enzyme that catalyzes ammonium and glutamate into glutamine in the ATP-dependent condensation.
Qiwei Jiang +11 more
doaj +5 more sources
Immunohistochemical localisation of Glutamate ammonia ligase (GLUL) in cerebrum in different clinical forms of canine rabies [PDF]
Rabies, one of the earliest known diseases reported in the history of mankind, is a fatal acute viral disease of the central nervous system. Despite numerous studies on etiology of rabies, its exact mechanism of neuropathogenesis remains unidentified ...
P. Nikhithasree +6 more
doaj +4 more sources
GLUL gene knockdown and restricted glucose level show synergistic inhibitory effect on the luminal subtype breast cancer MCF7 cells’ proliferation and metastasis [PDF]
The glutamine synthetase path is one of the most important metabolic pathways in luminal breast cancer cells, which plays a critical role in supplying glutamine as an intermediate in the biosynthesis of amino acids and nucleotides.
Arezu Karimpur Zahmatkesh +3 more
doaj +5 more sources
GLUL rs10911021 polymorphism and risk of coronary artery disease among Egyptian individuals [PDF]
Background Genome-wide association studies have identified novel genes related to coronary artery disease (CAD). These studies have been replicated in distinct ethnic populations, returning inconsistent results. Our work aimed to study the frequency of C
Rasha Nazih Yousef +6 more
doaj +5 more sources
Nasopharyngeal carcinoma (NPC) is often associated with the infection of Epstein-Barr virus in nasopharynx and is mainly happened in South China and Southeast Asia. Recently, noncoding RNAs have been reported to regulate NPC carcinogenesis.
Shuo Li +13 more
doaj +5 more sources
GLUL mediates FOXO3 O-GlcNAcylation to regulate the osteogenic differentiation of BMSCs and senile osteoporosis. [PDF]
The abnormal osteogenic differentiation of bone marrow mesenchymal stem cells (BMSCs) is an important cause of senile osteoporosis (SOP). Glutamine synthetase (GLUL) is a key enzyme in glutamine biosynthesis; however, its functional role in SOP remains ...
Zhang L +16 more
europepmc +5 more sources
TLR3 and GLUL orchestrate inflammatory and homeostatic imbalance in osteoarthritis [PDF]
IntroductionOsteoarthritis (OA) is a degenerative joint disease marked by chronic inflammation, extracellular matrix degradation, and dysregulated cell death.
Jing Wang +6 more
doaj +3 more sources
GLUL Confers Perivascular Cancer‐Associated Fibroblasts With Pro‐Angiogenic Capacity to Promote Glioma Progression [PDF]
Glioblastoma (GBM) is a malignant brain tumor characterized by profound angiogenic activity and immunosuppressive features. A burgeoning body of research has focused on elucidating the functional effects of stromal cells within the tumor microenvironment
Qing Zhang +4 more
semanticscholar +3 more sources

