Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy [PDF]
Scientific ReportsThe 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.
Song Jang, Ki Joong Kim, Seungbok Lee
exaly +6 more sources
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL [PDF]
Human Genetics and Genomics AdvancesSummary: 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.
Sarah L Stenton +2 more
exaly +6 more sources
TLR3 and GLUL orchestrate inflammatory and homeostatic imbalance in osteoarthritis [PDF]
Frontiers in ImmunologyIntroductionOsteoarthritis (OA) is a degenerative joint disease marked by chronic inflammation, extracellular matrix degradation, and dysregulated cell death.
Jing Wang +6 more
doaj +5 more sources
GLUL Confers Perivascular Cancer‐Associated Fibroblasts With Pro‐Angiogenic Capacity to Promote Glioma Progression [PDF]
Advanced ScienceGlioblastoma (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
doaj +4 more sources
GLUL stabilizes N-Cadherin by antagonizing β-Catenin to inhibit the progresses of gastric cancer
Acta Pharmaceutica Sinica BGlutamate-ammonia ligase (GLUL, also known as glutamine synthetase) is a crucial enzyme that catalyzes ammonium and glutamate into glutamine in the ATP-dependent condensation.
Xingyuan Shi, Zhe-Sheng Chen, Zhi Shi
exaly +5 more sources
Frontiers in Oncology, 2022 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.
Mingxing Tang, Junyi Liang
exaly +5 more sources
Aberrant expression and distribution of enzymes of the urea cycle and other ammonia metabolizing pathways in dogs with congenital portosystemic shunts. [PDF]
PLoS ONE, 2014 The detoxification of ammonia occurs mainly through conversion of ammonia to urea in the liver via the urea cycle and glutamine synthesis. Congenital portosystemic shunts (CPSS) in dogs cause hyperammonemia eventually leading to hepatic encephalopathy ...
Giora van Straten +10 more
doaj +8 more sources
HIF1α and HIF2α exert distinct nutrient preferences in renal cells. [PDF]
PLoS ONE, 2014 BackgroundHypoxia Inducible Factors (HIF1α and HIF2α) are commonly stabilized and play key roles related to cell growth and metabolic programming in clear cell renal cell carcinoma.
Alexandra Arreola +4 more
doaj +6 more sources
RHOJ derived peptide promotes chemosensitivity by inhibiting glutamine metabolism in gastric cancer [PDF]
Journal of Translational MedicineBackground Chemoresistance is a cause of chemotherapy failure in gastric cancer (GC) treatment. Recent studies have shown that the dysregulation of glutamine metabolism plays a pivotal role in promoting chemoresistance.
Jian Li +8 more
doaj +2 more sources
Bioinformatics-based study on the regulatory network of lipid metabolism-related genes and mechanisms in coronary heart disease [PDF]
HereditasCoronary heart disease (CHD), is a complex cardiovascular disease driven by atherosclerosis, resulting from a dynamic interplay between dysregulated lipid metabolism and chronic inflammation.
Zunxiong Xiao +5 more
doaj +2 more sources