Associated Papers
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
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
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
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM8_ESM.xlsx › SD4_-_HGMD_Mutations
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B
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
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