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N-acetylglutamate and its changing role through evolution.
The NAGS genes of bacteria, fungi and mammals are more diverse than other arginine-biosynthesis and urea-cycle genes and the evolutionary relationship between the distinctly different roles of NAG and its metabolism in lower and higher organisms remains to be determined.
Proceedings of a consensus conference for the management of patients with urea cycle disorders.
A consensus conference was held in Washington, DC, from April 27-29, 2000 to reach a consensus on diagnostic and therapeutic guidelines for urea cycle disorders with the most up-to-date information and the experience of experts in the field.
Mutations and polymorphisms in the human ornithine transcarbamylase gene
This comprehensive update contains a compilation of 244 mutations including 13 polymorphisms, most of which are presumed to confer a neonatal phenotype in hemizygous males, and results of expression studies for a small proportion of the mutations.
The Crystal Structure of N-Acetyl-L-glutamate Synthase from Neisseria gonorrhoeae Provides Insights into Mechanisms of Catalysis and Regulation*
The crystal structures of N-acetylglutamate synthase (NAGS) in the arginine biosynthetic pathway of Neisseria gonorrhoeae complexed with acetyl-CoA and with CoA plus N-acetylglutamate have been
Cross-sectional multicenter study of patients with urea cycle disorders in the United States.
A cross-sectional investigation to determine clinical and laboratory characteristics of patients with inherited urea cycle disorders in the United States found plasma glutamine levels were higher in proximal UCD and in neonatal type disease.
Clinical spectrum of succinic semialdehyde dehydrogenase deficiency
Urine organic acid analysis should include a sensitive method for the detection of 4-hydroxybutyrate and should be obtained from patients with mental retardation or neuropsychiatric disturbance of unknown etiology, the authors say.
Cloning and expression of the human N-acetylglutamate synthase gene.
A cDNA sequence containing the "conserved domain" complements an NAGS-deficient Escherichia coli strain and the recombinant protein has arginine-responsive NAGs catalytic activity.
Fatal Hyperammonemia after Orthotopic Lung Transplantation
The incidence of post-orthotopic lung transplantation hyperammonemia is measured and its associated clinical features are summarized and analyzed.
Identification, cloning and expression of the mouse N-acetylglutamate synthase gene.
The mouse (Mus musculus) and human NAGS genes are identified using their similarity to the respective Neurospora crassa gene and the deduced amino acid sequence contains a putative mitochondrial targeting signal at the N-terminus.
Crystal structure of human ornithine transcarbamylase complexed with carbamoyl phosphate and L‐norvaline at 1.9 Å resolution
The structures of the active sites in the complexes of aspartate transcarbamylase (ATCase) with various substrates or inhibitors are similar to this OTCase structure, consistent with their common evolutionary origin.