Urea

⇄

N-acetylglutamate synthase ; Homo sapiens







28 Article(s)
Download
PMID
Title
Pub. Year
#Total Relationships
1 32021803 Early care of N-acetyl glutamate synthase (NAGS) deficiency in three infants from an inbred family. 2020 Mar 1
2 33036647 Presentation and management of N-acetylglutamate synthase deficiency: a review of the literature. 2020 Oct 9 2
3 33551825 Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane. 2020 5
4 30337552 N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region. 2018 Oct 18 2
5 30443462 Carglumic Acid Treatment of a Patient with Recurrent Valproic Acid-induced Hyperammonemia: A Rare Case Report. 2018 Sep 12 3
6 28275973 Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. 2017 2
7 29055942 Interaction of Excitatory Amino Acid Transporters 1 - 3 (EAAT1, EAAT2, EAAT3) with N-Carbamoylglutamate and N-Acetylglutamate. 2017 2
8 27037498 Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations. 2016 Jul 2
9 27570737 N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra. 2016 Sep 4
10 27771289 A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue. 2016 Dec 2
11 25302046 Hyperammonemic encephalopathy in an adenocarcinoma patient managed with carglumic acid. 2014 Oct 3
12 25354943 Transporters involved in renal excretion of N-carbamoylglutamate, an orphan drug to treat inborn n-acetylglutamate synthase deficiency. 2014 Dec 15 2
13 23850694 Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound. 2013 Aug 9 2
14 23894642 Crystal structure of the N-acetyltransferase domain of human N-acetyl-L-glutamate synthase in complex with N-acetyl-L-glutamate provides insights into its catalytic and regulatory mechanisms. 2013 2
15 30780843 Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia. 2012 May 3
16 21681857 N-carbamylglutamate enhancement of ureagenesis leads to discovery of a novel deleterious mutation in a newly defined enhancer of the NAGS gene and to effective therapy. 2011 Oct 2
17 21941437 Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. 2011 2
18 22174908 A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris. 2011 2
19 18666241 Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. 2009 Jan 2
20 18319063 Site-directed mutagenesis studies of acetylglutamate synthase delineate the site for the arginine inhibitor. 2008 Apr 2 2
21 17421020 Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene. 2007 Aug 1
22 17425781 A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase. 2007 Apr 10 3
23 16321554 Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. 2006 Mar 1
24 15878741 Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies. 2005 Apr 15 2
25 12594532 Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. 2003 Apr 2
26 12633501 N-acetylglutamate and its changing role through evolution. 2003 Jun 1 1
27 12754705 Mutation analysis in patients with N-acetylglutamate synthase deficiency. 2003 Jun 2
28 12447942 N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy. 2002 Dec 1