Results 221 to 230 of about 87,161 (272)

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

open access: yesAm J Hum Genet
Jones AG   +27 more
europepmc   +1 more source

2-oxoglutarate triggers assembly of active dodecameric Methanosarcina mazei glutamine synthetase

open access: yes
Herdering E   +7 more
europepmc   +1 more source
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Congenital Glutamine Deficiency with Glutamine Synthetase Mutations

New England Journal of Medicine, 2005
Glutamine synthetase plays a major role in ammonia detoxification, interorgan nitrogen flux, acid-base homeostasis, and cell signaling. We report on two unrelated newborns who had congenital human glutamine synthetase deficiency with severe brain malformations resulting in multiorgan failure and neonatal death.
Johannes, Häberle   +11 more
openaire   +4 more sources

Glutamine synthetase and hepatocellular carcinoma

Clinics and Research in Hepatology and Gastroenterology, 2023
Glutamine synthetase (GS) is an enzyme that converts ammonia and glutamate to glutamine using adenosine triphosphate. GS is expressed in the brain, kidney, and liver tissues under normal physiological conditions. GS is involved in abnormal lipid metabolism of the liver by catalyzing de novo synthesis of glutamine, thereby inducing liver inflammation ...
Jinghua, Jiang   +3 more
openaire   +2 more sources

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