Publications by authors named "Mendel Tuchman"

74 Publications

Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets.

Biology (Basel) 2018 Jun 12;7(2). Epub 2018 Jun 12.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC 20010, USA.

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June 2018

Disease-causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene.

Hum Mutat 2018 04 16;39(4):527-536. Epub 2018 Jan 16.

Center for Genetic Medicine Research, Children's National Health System, Washington, District of Columbia.

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April 2018

Precision medicine in rare disease: Mechanisms of disparate effects of N-carbamyl-l-glutamate on mutant CPS1 enzymes.

Mol Genet Metab 2017 03 8;120(3):198-206. Epub 2016 Dec 8.

Center for Genetic Medicine Research, Department of Integrative Systems Biology, Children's Research Institute, Children's National Health System, The George Washington University, Washington, DC 20010, USA.

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March 2017

A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.

Mol Genet Metab 2016 12 13;119(4):307-310. Epub 2016 Oct 13.

Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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December 2016

From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases.

Int J Mol Sci 2015 Aug 12;16(8):18836-64. Epub 2015 Aug 12.

Center for Genetic Medicine Research, Children's National Medical Center, the George Washington University, Washington, DC 20010, USA.

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August 2015

The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.

Int J Mol Sci 2015 Jun 9;16(6):13004-22. Epub 2015 Jun 9.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, the George Washington University, Washington, DC 20010, USA.

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June 2015

Genotype-Phenotype Correlations in Ornithine Transcarbamylase Deficiency: A Mutation Update.

J Genet Genomics 2015 May 19;42(5):181-94. Epub 2015 May 19.

Department of Integrative Systems Biology, Center for Genetic Medicine Research, Children's National Health System, Washington DC 20010, USA. Electronic address:

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May 2015

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 Jan 1;71(Pt 1):86-95. Epub 2015 Jan 1.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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January 2015

A longitudinal study of urea cycle disorders.

Mol Genet Metab 2014 Sep-Oct;113(1-2):127-30. Epub 2014 Aug 10.

Children's Research Institute, Children's National Health System, 111 Michigan Ave. NW, Washington, DC 20010, USA; Department of Pediatrics, George Washington University School of Medicine and Health Sciences, USA. Electronic address:

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June 2015

Augmenting ureagenesis in patients with partial carbamyl phosphate synthetase 1 deficiency with N-carbamyl-L-glutamate.

J Pediatr 2014 Aug 29;165(2):401-403.e3. Epub 2014 May 29.

Center for Genetic Medicine Research, Children's National Health System, The George Washington University, Washington, DC.

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August 2014

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

J Pediatr Biochem 2014 Jan;4(1):57-63

Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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January 2014

Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase.

PLoS One 2014 22;9(1):e85597. Epub 2014 Jan 22.

Department of Biological Sciences, Rowan University, Glassboro, New Jersey, United States of America.

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December 2014

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.

PLoS One 2013 24;8(7):e70369. Epub 2013 Jul 24.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC, United States of America.

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February 2014

Structure of N-acetyl-L-glutamate synthase/kinase from Maricaulis maris with the allosteric inhibitor L-arginine bound.

Biochem Biophys Res Commun 2013 Aug 10;437(4):585-90. Epub 2013 Jul 10.

Center for Genetic Medicine Research, Washington, DC 20010, USA.

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August 2013

Structure and function of Escherichia coli RimK, an ATP-grasp fold, L-glutamyl ligase enzyme.

Proteins 2013 Oct 22;81(10):1847-54. Epub 2013 Jul 22.

Department of Integrative Systems Biology, Center for Genetic Medicine Research, Children's National Medical Center, The George Washington University, Washington, DC, 20010.

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October 2013

Structure of the complex of Neisseria gonorrhoeae N-acetyl-L-glutamate synthase with a bound bisubstrate analog.

Biochem Biophys Res Commun 2013 Jan 20;430(4):1253-8. Epub 2012 Dec 20.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC 20010, USA.

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January 2013

Clinical outcomes of neonatal onset proximal versus distal urea cycle disorders do not differ.

J Pediatr 2013 Feb 15;162(2):324-9.e1. Epub 2012 Aug 15.

Center for Genetic Medicine and Center for Clinical and Community Research, Children's National Medical Center, Washington, DC, USA.

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February 2013

A novel biochemically salvageable animal model of hyperammonemia devoid of N-acetylglutamate synthase.

Mol Genet Metab 2012 Jun 17;106(2):160-8. Epub 2012 Mar 17.

Research Center for Genetic Medicine, Children's National Medical Center, Washington, DC 20010, USA.

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June 2012

Transcriptional regulation of N-acetylglutamate synthase.

PLoS One 2012 27;7(2):e29527. Epub 2012 Feb 27.

Center for Genetic Medicine Research, Children's National Medical Center, Washington, DC, United States of America.

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August 2012

The Clinical and Translational Science Institute at Children's National: improving health through pediatric research.

Clin Transl Sci 2012 Feb 13;5(1):5-7. Epub 2011 Dec 13.

Children's National Medical Center, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.

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February 2012

Crystal structure and biochemical properties of putrescine carbamoyltransferase from Enterococcus faecalis: Assembly, active site, and allosteric regulation.

Proteins 2012 May 13;80(5):1436-47. Epub 2012 Feb 13.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, District of Columbia 20010, USA.

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May 2012

A novel N-acetylglutamate synthase architecture revealed by the crystal structure of the bifunctional enzyme from Maricaulis maris.

PLoS One 2011 12;6(12):e28825. Epub 2011 Dec 12.

Center for Genetic Medicine Research and Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, DC, United States of America.

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April 2012

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 Oct 9;32(10):1153-60. Epub 2011 Sep 9.

Research Center for Genetic Medicine, Children's National Medical Center, The George Washington University, Washington, DC, USA.

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October 2011

The ygeW encoded protein from Escherichia coli is a knotted ancestral catabolic transcarbamylase.

Proteins 2011 Jul 9;79(7):2327-34. Epub 2011 May 9.

Department of Integrative Systems Biology, Children's National Medical Center, The George Washington University, Washington, District of Columbia 20010, USA.

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July 2011

Down-regulation of hepatic urea synthesis by oxypurines: xanthine and uric acid inhibit N-acetylglutamate synthase.

J Biol Chem 2011 Jun 3;286(25):22055-68. Epub 2011 May 3.

Division of Child Development, Rehabilitation Medicine, and Metabolic Disease, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA.

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June 2011