Associated Papers
Glutamine synthetase modulates YAP activation by stabilizing LATS under glutamine homeostasis.
Li S et al.
Cell Reports, 2025
Expanding the clinical and genetic spectrum of GLUL-related developmental and epileptic encephalopathy.
Oh DE et al.
Scientific Reports, 2025
Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL.
Carbonell E et al.
Hgg Advances, 2025
[Integrative transcriptomics-metabolomics approach to identify metabolic pathways regulated by glutamine synthetase activity].
Ling T et al.
Se Pu = Chinese Journal of Chromatography, 2025
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Jones AG et al.
American Journal of Human Genetics, 2024
Hepatic glutamine synthetase controls N5-methylglutamine in homeostasis and cancer.
Villar VH et al.
Nature Chemical Biology, 2023
Glutamine synthetase as a central element in hepatic glutamine and ammonia metabolism: novel aspects.
Frieg B et al.
Biological Chemistry, 2021
Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency.
Roifman M et al.
Clinical Genetics, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Role of glutamine synthetase in angiogenesis beyond glutamine synthesis.
Eelen G et al.
Nature, 2018
Minireview on Glutamine Synthetase Deficiency, an Ultra-Rare Inborn Error of Amino Acid Biosynthesis.
Spodenkiewicz M et al.
Biology, 2016
Molecular Mechanisms of Glutamine Synthetase Mutations that Lead to Clinically Relevant Pathologies.
Frieg B et al.
Plos Computational Biology, 2016
Glutamine supplementation in a child with inherited GS deficiency improves the clinical status and partially corrects the peripheral and central amino acid imbalance.
Häberle J et al.
Orphanet Journal of Rare Diseases, 2012
Glutamine acts as a neuroprotectant against DNA damage, beta-amyloid and H2O2-induced stress.
Chen J et al.
Plos One, 2012
Glutamine synthetase is essential for proliferation of fetal skin fibroblasts.
Vermeulen T et al.
Archives of Biochemistry and Biophysics, 2008
Congenital glutamine deficiency with glutamine synthetase mutations.
Häberle J et al.
The New England Journal of Medicine, 2005
Inborn error of amino acid synthesis: human glutamine synthetase deficiency.
Häberle J et al.
Journal of Inherited Metabolic Disease, 0
Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid.
Bennett J et al.
Child Neurology Open, 0