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

Glutamine 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...

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Veröffentlicht in:	Clinical genetics 2020-12, Vol.98 (6), p.613-619
Hauptverfasser:	Roifman, Maian, Niles, Kirsten M., MacNeil, Lauren, Blaser, Susan, Noor, Abdul, Godoy, Ruth, Mieghem, Tim, Ryan, Greg, Seaward, Gareth, Sondheimer, Neal, Mercimek‐Andrews, Saadet, Schulze, Andreas, Hewson, Stacy, Ovadia, Adi, Chitayat, David, Morgen, Eric K., Hojilla, Carlo, Kolomietz, Elena, Watkins, Nicholas, Häberle, Johannes, Shannon, Patrick
Format:	Artikel
Sprache:	eng
Schlagworte:	1q25.3 deletion Ammonia Animal models Case reports Embryos Fetuses Gene deletion GLUL Glutamate-ammonia ligase Glutamine glutamine synthetase Hyperammonemia Inborn errors of metabolism Lethality Phenotypes Seizures
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