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.
Ki Joong Kim +2 more
exaly +3 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.
Heidi L Rehm +2 more
exaly +4 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 +2 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 +2 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.
Junyi Liang, Xiao Xing
exaly +3 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
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.
Qi-Wei Jiang, Zhe-Sheng Chen, Zhi Shi
exaly +3 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
Targeting the Glutamine Transporter SLC1A5 Enhances Sensitivity of Acute Myeloid Leukemia to MLN4924 [PDF]
BiomedicinesBackground/Objectives: Acute myeloid leukemia (AML) remains a hematologic malignancy with poor prognosis. The neddylation inhibitor MLN4924 has demonstrated potent anti-leukemic activity in preclinical models, yet its clinical translation faces ...
Yin Wang +6 more
doaj +2 more sources
ALDH1L1 reverses CD8+ T cell exhaustion in the oral squamous cell carcinoma microenvironment by reprogramming L-glutamate metabolism [PDF]
Journal of Translational MedicineBackground Oral squamous cell carcinoma (OSCC) induces CD8⁺ T-cell exhaustion within the tumor microenvironment (TME) through metabolic reprogramming, contributing to the limited efficacy of immunotherapy. Targeting tumor metabolism is a pivotal strategy.
Guanzheng Chen +7 more
doaj +2 more sources