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 +4 more
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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 +1 more source
A fluorescence-coupled assay for gamma aminobutyric acid (GABA) reveals metabolic stress-induced modulation of GABA content in neuroendocrine cancer. [PDF]
PLoS ONE, 2014 Pathways involved in the synthesis of the neurotransmitter gamma-aminobutyric acid (GABA) have been implicated in the pathogenesis of high grade neuroendocrine (NE) neoplasms as well as neoplasms from a non-NE lineage.
Joseph E Ippolito, David Piwnica-Worms
doaj +1 more source
Identification of core gene in obese type 2 diabetes patients using bioinformatics analysis
Adipocyte, 2021 Objectives Adipocytes and adipocyte lipid metabolism are closely related with obesity and type 2 diabetes, but the molecular mechanism still needs further investigation.
Zhiyong Dong +5 more
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Hepatoblastoma: glutamine depletion hinders cell viability in the embryonal subtype but high GLUL expression is associated with better overall survival [PDF]
Journal of Cancer Research and Clinical Oncology, 2021 Abstract Purpose Glutamine plays an important role in cell viability and growth of various tumors. For the fetal subtype of hepatoblastoma, growth inhibition through glutamine depletion was shown. We studied glutamine depletion in embryonal cell lines of hepatoblastoma carrying different mutations.
Schmidt A. +9 more
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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 +10 more
openaire +3 more sources
Leukemia Cells Resistant to Glutamine Deprivation Express Glutamine Synthetase Protein
Turkish Journal of Hematology, 2022 Objective: Low glutamine levels have been shown in tumor environments for several cancer subtypes. Therefore, it has been suggested that cancer cells rewire their metabolism to adopt low nutrient levels for survival and proliferation.
Burcu Yücel, Saniye Ada
doaj +1 more source
Open Medicine, 2023 Acute myeloid leukemia (AML) is classified into favorable-risk, intermediate-risk, and poor-risk subtypes. This study aimed to compare the serum proteomic signatures of the three AML subtypes and identify prognostic biomarkers for AML. Serum samples from
Zhang Wei, Liu Bei, Wu Shiwen, Zhao Li
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Neurobiology of Disease, 2006 Mild cognitive impairment (MCI) is generally referred to the transitional zone between normal cognitive function and early dementia or clinically probable Alzheimer's disease (AD).
D. Allan Butterfield +6 more
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Molecular Metabolism, 2022 Objective: Dicer is an enzyme that processes microRNAs (miRNAs) precursors into mature miRNAs, which have been implicated in various aspects of cancer progressions, such as clinical aggressiveness, prognosis, and survival outcomes.
Ji Min Park +10 more
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