2015 Oct;51:96-103. doi: 10.1016/j.yebeh.2015.07.015. Free PMC article 1GS-WT and pcDNA3.1GS-Mut with the use of cationic lipids (in a molar lipid-to-DNA ratio of 2:1) (TransFast Transfection Reagent, Promega).

He died at two days of life (Cerebral magnetic resonance imaging (MRI) showed a markedly immature brain with hyperintensity of the white matter, enlarged lateral ventricles, and almost complete agyria.

Paraventricular cysts, a small, smooth cerebellum, and large pericerebral spaces were present. Direct sequencing of PCR products was performed with the use of a DNA sequencer (ABI Prism 3700, Applied Biosystems).To rule out the possibility that the findings represented a common polymorphism, the frequency of the sequence alterations detected was investigated in 50 healthy white control subjects, most of whom were German but some of whom were from other countries in Europe (100 alleles), and in 34 healthy white Turkish controls (68 alleles). She died during the fourth week of life from multiorgan failure.

Each infant had a homozygous mutation in the glutamine synthetase gene (R324C and R341C).

2020 May 26;13(6):106. doi: 10.3390/ph13060106.Curr Neurol Neurosci Rep. 2020 Mar 12;20(4):5. doi: 10.1007/s11910-020-1025-9.Clarkson C, Smeal RM, Hasenoehrl MG, White JA, Rubio ME, Wilcox KS.Exp Neurol. The only material available from the patient post mortem was her DNA, since her skin fibroblasts failed to grow. Glutathione helps prevent damage to cells by neutralizing harmful molecules generated during energy production. Glutamine synthetase (GS) is a cytosolic enzyme that produces glutamine, the most abundant free amino acid in the human body.

2020 Mar;43(2):200-215. doi: 10.1002/jimd.12180. This site needs JavaScript to work properly. Three aliquots from Patient 1 and from each of his parents were measured. Clipboard, Search History, and several other advanced features are temporarily unavailable. 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. Studies that used immortalized lymphocytes expressing R324C glutamine synthetase (R324C-GS) and COS7 cells expressing R341C-GS suggest that these mutations are associated with reduced glutamine synthetase activity.Glutamine synthetase (glutamate ammonia ligase, EC 6.3.1.2) catalyzes the conversion of glutamate and ammonia to glutamine and is important in ammonia detoxification, interorgan nitrogen flux, and acid–base regulation.Diminished glutamine synthetase expression or a secondary deficiency of glutamine synthetase has been described but is rare.Patient 1, a boy, was the second child of consanguineous Turkish parents.

Kalayci for supplying Turkish DNA samples.From the Universitätsklinikum Münster, Klinik und Poliklinik für Kinderheilkunde und Jugendmedizin, Münster, Germany (J.H., F.R., E.S., H.G.K.

A deficiency in glutamine synthetase in astrocytes is a possible molecular basis for extracellular glutamate accumulation and seizure generation in MTLE. — both in Tours, France; the Hôpital Robert Debré, Service de Biochimie-Hormonologie (J.-F.B. COVID-19 is an emerging, rapidly evolving situation. 2015 Feb;34(1):18-20. doi: 10.3109/15513815.2014.947543. Multidisciplinary Digital Publishing Institute (MDPI) 2008 Aug;131(Pt 8):2061-70. doi: 10.1093/brain/awn133.