Published in Hum Mutat on August 01, 2007
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Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency. Eur J Pediatr (2009) 0.98
Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods. BMC Biochem (2008) 0.97
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A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris. PLoS One (2011) 0.88
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. Hum Mutat (2011) 0.82
Structure of the complex of Neisseria gonorrhoeae N-acetyl-L-glutamate synthase with a bound bisubstrate analog. Biochem Biophys Res Commun (2012) 0.80
Hyperammonemia due to Adult-Onset N-Acetylglutamate Synthase Deficiency. JIMD Rep (2016) 0.77
Functional dissection of N-acetylglutamate synthase (ArgA) of Pseudomonas aeruginosa and restoration of its ancestral N-acetylglutamate kinase activity. J Bacteriol (2012) 0.77
Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase. PLoS One (2014) 0.77
Structures of the N-acetyltransferase domain of Xylella fastidiosa N-acetyl-L-glutamate synthase/kinase with and without a His tag bound to N-acetyl-L-glutamate. Acta Crystallogr F Struct Biol Commun (2015) 0.76
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Screening of infants and mortality due to neuroblastoma. N Engl J Med (2002) 4.00
The pleiotropic effects of natural AAV infections on liver-directed gene transfer in macaques. Mol Ther (2009) 2.08
Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab (2010) 2.07
Systematic evaluation of AAV vectors for liver directed gene transfer in murine models. Mol Ther (2009) 1.85
Preparedness of the CTSA's structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS). Clin Transl Sci (2012) 1.76
Long-term correction of ammonia metabolism and prolonged survival in ornithine transcarbamylase-deficient mice following liver-directed treatment with adeno-associated viral vectors. Mol Ther (2006) 1.64
Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene. Hum Mutat (2006) 1.61
Adeno-associated virus antibody profiles in newborns, children, and adolescents. Clin Vaccine Immunol (2011) 1.57
Health and economic benefits of well-designed evaluations: some lessons from evaluating neuroblastoma screening. J Natl Cancer Inst (2005) 1.42
N-acetylglutamate and its changing role through evolution. Biochem J (2003) 1.38
Mutations and polymorphisms in the human ornithine transcarbamylase gene. Hum Mutat (2002) 1.37
Significant behavioral disturbances in succinic semialdehyde dehydrogenase (SSADH) deficiency (gamma-hydroxybutyric aciduria). Biol Psychiatry (2003) 1.29
Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate. J Pediatr (2004) 1.18
Cloning and expression of the human N-acetylglutamate synthase gene. Biochem Biophys Res Commun (2002) 1.18
N-carbamylglutamate augments ureagenesis and reduces ammonia and glutamine in propionic acidemia. Pediatrics (2010) 1.17
Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia. Hum Genet (2003) 1.16
Crystal structure of N-acetylornithine transcarbamylase from Xanthomonas campestris: a novel enzyme in a new arginine biosynthetic pathway found in several eubacteria. J Biol Chem (2005) 1.13
Effects of a single dose of N-carbamylglutamate on the rate of ureagenesis. Mol Genet Metab (2009) 1.09
A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase. BMC Biochem (2007) 1.08
Identification, cloning and expression of the mouse N-acetylglutamate synthase gene. Biochem J (2002) 1.07
Acetylornithine transcarbamylase: a novel enzyme in arginine biosynthesis. J Bacteriol (2006) 1.06
Brain MR imaging in neonatal hyperammonemic encephalopathy resulting from proximal urea cycle disorders. AJNR Am J Neuroradiol (2003) 1.05
Acute fatal presentation of ornithine transcarbamylase deficiency in a previously healthy male. Hepatol Int (2008) 1.05
The crystal structure of N-acetyl-L-glutamate synthase from Neisseria gonorrhoeae provides insights into mechanisms of catalysis and regulation. J Biol Chem (2008) 1.04
Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. Hum Mutat (2005) 1.04
Measuring in vivo ureagenesis with stable isotopes. Mol Genet Metab (2010) 1.01
Crystal structure of a transcarbamylase-like protein from the anaerobic bacterium Bacteroides fragilis at 2.0 A resolution. J Mol Biol (2002) 1.00
Biochemical properties of recombinant human and mouse N-acetylglutamate synthase. Mol Genet Metab (2006) 0.98
Genetic and clinical heterogeneity in eIF2B-related disorder. J Child Neurol (2008) 0.98
Mammalian N-acetylglutamate synthase. Mol Genet Metab (2004) 0.98
Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods. BMC Biochem (2008) 0.97
Preclinical evaluation of a clinical candidate AAV8 vector for ornithine transcarbamylase (OTC) deficiency reveals functional enzyme from each persisting vector genome. Mol Genet Metab (2011) 0.96
Mechanism of allosteric inhibition of N-acetyl-L-glutamate synthase by L-arginine. J Biol Chem (2008) 0.96
N-acetylglutamate synthase: structure, function and defects. Mol Genet Metab (2010) 0.93
Streamlined assessment of gene variants by high resolution melt profiling utilizing the ornithine transcarbamylase gene as a model system. Hum Mutat (2007) 0.90
Structure of a novel N-acetyl-L-citrulline deacetylase from Xanthomonas campestris. Biophys Chem (2006) 0.89
Structure and catalytic mechanism of a novel N-succinyl-L-ornithine transcarbamylase in arginine biosynthesis of Bacteroides fragilis. J Biol Chem (2006) 0.89
Expression, purification, crystallization and preliminary X-ray crystallographic studies of a novel acetylcitrulline deacetylase from Xanthomonas campestris. Acta Crystallogr Sect F Struct Biol Cryst Commun (2005) 0.89
Structures of N-acetylornithine transcarbamoylase from Xanthomonas campestris complexed with substrates and substrate analogs imply mechanisms for substrate binding and catalysis. Proteins (2006) 0.88
A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris. PLoS One (2011) 0.88
Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Hum Mutat (2009) 0.85
A single mutation in the active site swaps the substrate specificity of N-acetyl-L-ornithine transcarbamylase and N-succinyl-L-ornithine transcarbamylase. Protein Sci (2007) 0.85
Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase. Acta Crystallogr Sect F Struct Biol Cryst Commun (2006) 0.85
Pharmacokinetics of sodium phenylacetate and sodium benzoate following intravenous administration as both a bolus and continuous infusion to healthy adult volunteers. Mol Genet Metab (2004) 0.84
Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ. J Pediatr (2012) 0.83
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. Hum Mutat (2011) 0.82
The ygeW encoded protein from Escherichia coli is a knotted ancestral catabolic transcarbamylase. Proteins (2011) 0.82
Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase. J Biol Chem (2011) 0.81
Reversible post-translational carboxylation modulates the enzymatic activity of N-acetyl-L-ornithine transcarbamylase. Biochemistry (2010) 0.81
Management and outcome of neonatal-onset ornithine transcarbamylase deficiency following liver transplantation at 60 days of life. Mol Genet Metab (2005) 0.81
Structure of the complex of Neisseria gonorrhoeae N-acetyl-L-glutamate synthase with a bound bisubstrate analog. Biochem Biophys Res Commun (2012) 0.80
Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound. Biochem Biophys Res Commun (2013) 0.80
Structure and function of Escherichia coli RimK, an ATP-grasp fold, L-glutamyl ligase enzyme. Proteins (2013) 0.79
The use of yeast mitochondria to study the properties of wild-type and mutant human mitochondrial ornithine transporter. Mol Genet Metab (2005) 0.79
Crystal structure and biochemical properties of putrescine carbamoyltransferase from Enterococcus faecalis: Assembly, active site, and allosteric regulation. Proteins (2012) 0.77
A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase. Mol Genet Metab (2012) 0.77
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations. J Hum Genet (2009) 0.77
Transcriptional regulation of N-acetylglutamate synthase. PLoS One (2012) 0.76
The Clinical and Translational Science Institute at Children's National: improving health through pediatric research. Clin Transl Sci (2011) 0.75