Results 1 to 10 of about 6,846 (179)

Male proband with intractable seizures and a de novo start-codon-disrupting variant in GLUL. [PDF]

HGG Adv
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. A dominant disease mechanism was recently reported in nine females, all with a de novo single-nucleotide variant within the start codon or the 5 ...
Carbonell E, Stenton SL, Ganesh VS, Ma J, VanNoy GE, Pais L, Gaitanis JN, O'Leary MC, Rehm HL, O'Donnell-Luria A.   +9 more
europepmc   +6 more sources

GLUL rs10911021 polymorphism and risk of coronary artery disease among Egyptian individuals [PDF]

Bulletin of the National Research Centre, 2019
Abstract 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 and T alleles of GLUL polymorphism genetic variant rs10911021 among Egyptians with ...
Rasha Nazih Yousef, Solaf Ahmed Kamel, Nehal Salah Hasan, Mona Awad, Hesham Gamal, Nevine Ibrahim Musa, Mona Hamed Farag   +6 more
doaj   +7 more sources

Investigating the role of GLUL as a survival factor in cellular adaptation to glutamine depletion via targeted stable isotope resolved metabolomics [PDF]

Frontiers in Molecular Biosciences, 2022
Cellular glutamine synthesis is thought to be an important resistance factor in protecting cells from nutrient deprivation and may also contribute to drug resistance. The application of ‟targeted stable isotope resolved metabolomics” allowed to directly measure the activity of glutamine synthetase in the cell.
Șafak Bayram, Yasmin Sophiya Razzaque, Sabrina Geisberger, Matthias Pietzke, Matthias Pietzke, Susanne Fürst, Susanne Fürst, Carolina Vechiatto, Martin Forbes, Guido Mastrobuoni, Stefan Kempa   +10 more
doaj   +7 more sources

GLUL stabilizes N-Cadherin by antagonizing β-Catenin to inhibit the progresses of gastric cancer. [PDF]

Acta Pharm Sin B, 2023
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. Although GLUL plays a critical role in multiple cancers, the expression and function of GLUL in gastric cancer remain unclear.
Jiang Q, Li Y, Cai S, Shi X, Yang Y, Xing Z, He Z, Wang S, Su Y, Chen M, Chen Z, Shi Z.   +11 more
europepmc   +6 more sources

Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase. [PDF]

Am J Hum Genet
Glutamine synthetase (GS), encoded by GLUL, catalyzes the conversion of glutamate to glutamine. GS is pivotal for the generation of the neurotransmitters glutamate and gamma-aminobutyric acid and is the primary mechanism of ammonia detoxification in the brain.
Jones AG, Aquilino M, Tinker RJ, Duncan L, Jenkins Z, Carvill GL, DeWard SJ, Grange DK, Hajianpour MJ, Halliday BJ, Holder-Espinasse M, Horvath J, Maitz S, Nigro V, Morleo M, Paul V, Spencer C, Esterhuizen AI, Polster T, Spano A, Gómez-Lozano I, Kumar A, Poke G, Phillips JA, Underhill HR, Gimenez G, Namba T, Robertson SP.   +27 more
europepmc   +6 more sources

Homozygous GLUL deletion is embryonically viable and leads to glutamine synthetase deficiency [PDF]

Clinical Genetics, 2020
AbstractGlutamine synthetase (GS) is the enzyme responsible for the biosynthesis of glutamine, providing the only source of endogenous glutamine necessary for several critical metabolic and developmental pathways. GS deficiency, caused by pathogenic variants in the glutamate‐ammonia ligase (GLUL) gene, is a rare autosomal recessive inborn error of ...
Eric K. Morgen, David Chitayat, Kirsten M. Niles, Adi Ovadia, Adi Ovadia, Maian Roifman, Johannes Häberle, Patrick Shannon, Carlo Hojilla, Tim Van Mieghem, Saadet Mercimek-Andrews, Ruth Godoy, Greg Ryan, Nicholas A. Watkins, Stacy Hewson, Gareth Seaward, Neal Sondheimer, Andreas Schulze, Lauren G. MacNeil, Lauren G. MacNeil, Elena Kolomietz, Abdul Noor, Susan Blaser   +22 more
semanticscholar   +6 more sources

Two Siblings With Valproate-Related Hyperammonemia and Novel Mutations in Glutamine Synthetase (GLUL) Treated With Carglumic Acid [PDF]

Child Neurology Open, 2020
This case report describes 2 siblings with myoclonic epilepsy who had novel mutations in the glutamine synthetase ( GLUL) gene: c.316C>T, p.(Arg106*) and c.42G>C, p.(Lys14Asn). Valproic acid improved seizure control, but was associated with hyperammonemic encephalopathy.
Jennifer Bennett, Christy Gilkes, Karin Klassen, Marina Kerr, Aneal Khan   +4 more
semanticscholar   +3 more sources

FISH mapping of three ammonia metabolism genes (Glul, Cps1, Glud1) in rat, and the chromosomal localization of GLUL in human and Cps1 in mouse [PDF]

Mammalian Genome, 1997
In recent years, the rat genes encoding glutamate dehydrogenase (GLUD; Das et al. 1993), glutamine synthetase (glutamateammonia ligase, GLUL; van de Zande et al. 1990) and carbamoylphosphate synthetase 1 (CPS; Van den Hoff et al. 1995) have been isolated.
Helou, Khalil, Das, A T, Lamers, W H, Hoovers, J M, Szpirer, Claude, Szpirer, Josiane, Klinga-Levan, K, Levan, G   +7 more
semanticscholar   +7 more sources

Multiomics identifies the link between intratumor steatosis and the exhausted tumor immune microenvironment in hepatocellular carcinoma

Hepatology, EarlyView., 2022
Steatotic HCC can be diagnosed by MRI and forms a pro‐tumor immune microenvironment with high expression of PD‐L1, M2 polarization of macrophages and activation of CAFs, which may be a good target for combined immunotherapy. Abstract Background and Aims Immunotherapy has become the standard‐of‐care treatment for hepatocellular carcinoma (HCC), but its ...
Hiroki Murai, Takahiro Kodama, Kazuki Maesaka, Shoichiro Tange, Daisuke Motooka, Yutaka Suzuki, Yasuyuki Shigematsu, Kentaro Inamura, Yoshihiro Mise, Akio Saiura, Yoshihiro Ono, Yu Takahashi, Yota Kawasaki, Satoshi Iino, Shogo Kobayashi, Masashi Idogawa, Takashi Tokino, Tomomi Hashidate‐Yoshida, Hideo Shindou, Masanori Miyazaki, Yasuharu Imai, Satoshi Tanaka, Eiji Mita, Kazuyoshi Ohkawa, Hayato Hikita, Ryotaro Sakamori, Tomohide Tatsumi, Hidetoshi Eguchi, Eiichi Morii, Tetsuo Takehara   +29 more
wiley   +1 more source

ALK1 controls hepatic vessel formation, angiodiversity, and angiocrine functions in hereditary hemorrhagic telangiectasia of the liver

Hepatology, EarlyView., 2022
Hepatic endothelial Alk1 signaling protects from development of vascular malformations while maintaining organ‐specific endothelial differentiation and angiocrine portmanteau of the names Wingless and Int‐1 signaling. Abstract Background and Aims In hereditary hemorrhagic telangiectasia (HHT), severe liver vascular malformations are associated with ...
Christian David Schmid, Victor Olsavszky, Manuel Reinhart, Vanessa Weyer, Felix A. Trogisch, Carsten Sticht, Manuel Winkler, Sina W. Kürschner, Johannes Hoffmann, Roxana Ola, Theresa Staniczek, Joerg Heineke, Beate K. Straub, Jens Mittler, Kai Schledzewski, Peter ten Dijke, Karsten Richter, Steven Dooley, Cyrill Géraud, Sergij Goerdt, Philipp‐Sebastian Koch   +20 more
wiley   +1 more source