CareLit · DOI-Nachweis · Zeitschrift für Gastroenterologie
Determining the molecular consequences of clinically relevant glutamine synthetase mutations
DOI 10.1055/s-0035-1567974
Bibliografische Angaben
Nachweis in CareLit
Autor:innenB Frieg, B Görg, N Homeyer, V Keitel, D Häussinger, H Gohlke
ZeitschriftZeitschrift für Gastroenterologie
Ausgabe12/2015
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Glutamine synthetase (GS) catalyzes the ligation of ammonia and glutamate to glutamine under the use of ATP and is, thus, essential for nitrogen metabolism [1,2]. Loss of hepatic GS activity has been linked to serious clinical conditions [3]. In particular, two mutations of human GS (R324C and R341C) were connected to congenital glutamine deficiency with severe brain malformations resulting in neonatal death [4]. In…
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Zitierempfehlung
B Frieg, B Görg, N Homeyer, V Keitel, D Häussinger, H Gohlke (2015) Determining the molecular consequences of clinically relevant glutamine synthetase mutations. Zeitschrift für Gastroenterologie (12). https://doi.org/10.1055/s-0035-1567974
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