The phosphate originating from ATP is depicted in red, ammonium in blue.Representation of the crystal structure of human GS (PDB file 2QC8) with the damaging mutations described to-date. Epub 2014 Aug 28. Ben Ameur S, Aloulou H, Nasrallah F, Kamoun T, Kaabachi N, Hachicha M. Hemolytic anemia and metabolic acidosis: think about glutathione synthetase deficiency.
doi: 10.1016/s0140-6736(03)15166-5. Successfully transfected cells were selected by adding G418 (Geneticin, GIBCO) to the culture medium (200 μg per milliliter). Unable to load your delegates due to an error
Unable to load your collection due to an error In… Aug 6, 2020 Glutathione metabolism and its implications for health. Diminished glutamine synthetase expression or a secondary deficiency of glutamine synthetase has been described but is rare.
Multidisciplinary Digital Publishing Institute (MDPI) Clipboard, Search History, and several other advanced features are temporarily unavailable. The values of His-Tag immunoreactivity were quantified by densitometry and taken into account in the calculation of the GS activity by the normalization of GS activity to equal levels of His-Tag expression. The only material available from the patient post mortem was her DNA, since her skin fibroblasts failed to grow.
The levels of both glutamine and glutamate were normal in the parents, for whom serum samples, urine samples, or both, were investigated after written informed consent was obtained (A search was performed with the glutamine synthetase transcript sequence (GenBank accession number NM_002065) and data derived from the Human Genome Project with the use of the Basic Local Alignment Search Tool (BLAST) algorithm (For clarification of the 5' region, 5' rapid amplification of cDNA ends (5' RACE) experiments were performed with the use of glutamine synthetase–specific primers according to the manufacturer's instructions (Boehringer).DNA was isolated from peripheral blood lymphocytes by standard methods.
[provided by RefSeq, Dec 2014] From UniProt: Glutamine synthetase that … According to a model of human glutamine synthetase based on the x-ray structure of glutamine synthetase of Panel A shows immortalized B lymphocytes from Patient 1, the patient's heterozygous parents, and two wild-type controls that were analyzed for the expression of glutamine synthetase (GS) and glyceraldehyde-3-phosphate dehydrogenase (GAPDH) and for GS activity. 2019;1175:149-179. doi: 10.1007/978-981-13-9913-8_7.Theor Biol Med Model. 2019 Jun 4;11(6):770. doi: 10.3390/cancers11060770. ), and the Unité de Neuropathologie, Hôpital Armand Trousseau (A.G.) — both in Paris; and the Charité-Universitätsmedizin Berlin, Institut für Biochemie, Berlin (W.H.
Lancet. Acta Paediatr.
WB denotes Western blot.Tap into groundbreaking research and clinically relevant insights
Glutamine was largely absent from their serum, urine, and cerebrospinal fluid.
Three aliquots from Patient 1 and from each of his parents were measured. J Nutr. Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid–base homeostasis, and cell signaling. As previously suggested,Glutamine is a major source of energy and is involved in cell proliferation, apoptosis inhibition, and cell signaling.In summary, we describe a congenital syndrome that results from systemic glutamine deficiency caused by a defect of the glutamine synthetase gene.
Methylation and mutagenesis reactions were performed with the use of the GeneTailor Site-Directed Mutagenesis System (Invitrogen).
2005 Apr;116(5):384-9. This site needs JavaScript to work properly.
All subjects provided written informed consent. Rarely, affected people also excrete large amounts of a compound called 5-oxoproline (also called pyroglutamic acid, or pyroglutamate) in their urine (5-oxoprolinuria). Intermediates of the TCA cycle: αKG: α-ketoglutarate; Enzymes: GDH, glutamate dehydrogenase; AT, aminotransferases; GS, glutamine synthetase; GAD65, glutamate decarboxylase 65; GAD67, glutamate decarboxylase 67; PAG, phosphate-activated glutaminase; Transporters: GAT1, GABA transporter 1; GAT3, GABA transporter 3; SAT1, system A transporter 1; SAT2, system A transporter 2; SN1, system N transporter 1; EAAT1, excitatory amino acid transporter 1; EAAT2, excitatory amino acid transporter 2; EAAT3, excitatory amino acid transporter 3; Neurotransmitter: GABA, gamma-aminobutyric acid.
Further studies are needed to define the cause, but the loss of glutamine synthetase may provide a new focus for therapeutic interventions in MTLE … Two monoclonal anti–glutamine synthetase antibodies were ineffective in detecting R341C-GS but recognized wild-type glutamine synthetase, supporting the view that this mutation induces a structural change.
Ristoff E, Larsson A. Inborn errors in the metabolism of glutathione. A difference was considered statistically significant if the P value was less than 0.05.The GenBank-based search revealed the putative genomic structure of glutamine synthetase. Peer-reviewed journal featuring in-depth articles to accelerate the transformation of health care delivery.Information, resources, and support needed to approach rotations - and life as a resident.Valuable tools for building a rewarding career in health care.Information and tools for librarians about site license offerings.The authorized source of trusted medical research and education for the Chinese-language medical community.The most trusted, influential source of new medical knowledge and clinical best practices in the world.Congenital Glutamine Deficiency with Glutamine Synthetase MutationsClinical Characteristics and Biochemical Values of the Two Patients and Values of the Parents.Clinical Characteristics and Biochemical Values of the Two Patients and Values of the Parents. Glutathione synthetase (GSS) deficiency is a rare disorder of glutathione metabolism with varying clinical severity.
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