Publications by authors named "Mendel Tuchman"

74 Publications

Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.

Authors:
Nantaporn Haskins Shivaprasad Bhuvanendran Claudio Anselmi Anna Gams Tomas Kanholm Kristen M Kocher Jonathan LoTempio Kylie I Krohmaly Danielle Sohai Nathaniel Stearrett Erin Bonner Mendel Tuchman Hiroki Morizono Jyoti K Jaiswal Ljubica Caldovic

Front Physiol 2020 21;11:542950. Epub 2021 Jan 21.

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

View Article and Find Full Text PDF
January 2021

AMP-activated protein kinase signaling regulated expression of urea cycle enzymes in response to changes in dietary protein intake.

Authors:
Sandra K Heibel Peter J McGuire Nantaporn Haskins Himani D Majumdar Sree Rayavarapu Kanneboyina Nagaraju Yetrib Hathout Kristy Brown Mendel Tuchman Ljubica Caldovic

J Inherit Metab Dis 2019 11 1;42(6):1088-1096. Epub 2019 Aug 1.

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

View Article and Find Full Text PDF
November 2019

Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.

Authors:
Nicholas Ah Mew Avital Cnaan Robert McCarter Henry Choi Penny Glass Katie Rice Louis Scavo Catherine W Gillespie George A Diaz Gerard T Berry Derek Wong Laura Konczal Shawn E McCandless Curtis R Coughlin Ii James D Weisfeld-Adams Can Ficicioglu Mark Yudkoff Gregory M Enns Uta Lichter-Konecki Renata Gallagher Mendel Tuchman

Transl Sci Rare Dis 2018 Dec 20;3(3-4):157-170. Epub 2018 Dec 20.

Children's National Health System, Washington, DC, USA.

View Article and Find Full Text PDF
December 2018

N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.

Authors:
Monique Williams Alberto Burlina Laura Rubert Giulia Polo George J G Ruijter Myrthe van den Born Véronique Rüfenacht Nantaporn Haskins Laura J C M van Zutven Mendel Tuchman Jasper J Saris Johannes Häberle Ljubica Caldovic

Sci Rep 2018 10 18;8(1):15436. Epub 2018 Oct 18.

Children's Research Institute, Children's National Medical Center, Washington, DC, 20010, USA.

View Article and Find Full Text PDF
October 2018

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

Authors:
Dashuang Shi Ljubica Caldovic Mendel Tuchman

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.

View Article and Find Full Text PDF
June 2018

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

Authors:
Yoon J Jang Abigail L LaBella Timothy P Feeney Nancy Braverman Mendel Tuchman Hiroki Morizono Nicholas Ah Mew Ljubica Caldovic

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.

View Article and Find Full Text PDF
April 2018

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

Authors:
Dashuang Shi Gengxiang Zhao Nicholas Ah Mew Mendel Tuchman

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.

View Article and Find Full Text PDF
March 2017

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

Authors:
Marli Dercksen Marinus Duran Lodewijk IJlst Wim Kulik Jos P N Ruiter Arno van Cruchten Mendel Tuchman Ronald J A Wanders

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.

View Article and Find Full Text PDF
December 2016

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

Authors:
Dashuang Shi Norma M Allewell Mendel Tuchman

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.

View Article and Find Full Text PDF
August 2015

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

Authors:
Dashuang Shi Norma M Allewell Mendel Tuchman

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.

View Article and Find Full Text PDF
June 2015

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

Authors:
Ljubica Caldovic Iman Abdikarim Sahas Narain Mendel Tuchman Hiroki Morizono

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:

View Article and Find Full Text PDF
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.

Authors:
Gengxiang Zhao Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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.

View Article and Find Full Text PDF
January 2015

A longitudinal study of urea cycle disorders.

Authors:
Mark L Batshaw Mendel Tuchman Marshall Summar Jennifer Seminara

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:

View Article and Find Full Text PDF
June 2015

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

Authors:
Nicholas Ah Mew Robert McCarter Yevgeny Daikhin Uta Lichter-Konecki Ilana Nissim Marc Yudkoff Mendel Tuchman

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.

View Article and Find Full Text PDF
August 2014

Stable isotopes in the diagnosis and treatment of inherited hyperammonemia.

Authors:
Nicholas Ah Mew Marc Yudkoff Mendel Tuchman

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

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

View Article and Find Full Text PDF
January 2014

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

Authors:
Ljubica Caldovic Nantaporn Haskins Amy Mumo Himani Majumdar Mary Pinter Mendel Tuchman Alison Krufka

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

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

View Article and Find Full Text PDF
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.

Authors:
Gengxiang Zhao Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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.

View Article and Find Full Text PDF
February 2014

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

Authors:
Gengxiang Zhao Nantaporn Haskins Zhongmin Jin Norma M Allewell Mendel Tuchman Dashuang Shi

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

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

View Article and Find Full Text PDF
August 2013

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

Authors:
Gengxiang Zhao Zhongmin Jin Yanli Wang Norma M Allewell Mendel Tuchman Dashuang Shi

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.

View Article and Find Full Text PDF
October 2013

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

Authors:
Gengxiang Zhao Norma M Allewell Mendel Tuchman Dashuang Shi

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.

View Article and Find Full Text PDF
January 2013

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

Authors:
Nicholas Ah Mew Lauren Krivitzky Robert McCarter Mark Batshaw Mendel Tuchman

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.

View Article and Find Full Text PDF
February 2013

Preparedness of the CTSA's structural and scientific assets to support the mission of the National Center for Advancing Translational Sciences (NCATS).

Authors:
Harry Shamoon David Center Pamela Davis Mendel Tuchman Henry Ginsberg Robert Califf David Stephens Thomas Mellman Joseph Verbalis Lee Nadler Anantha Shekhar Daniel Ford Robert Rizza Reza Shaker Kathleen Brady Barbara Murphy Bruce Cronstein Judith Hochman Philip Greenland Eric Orwoll Lawrence Sinoway Harry Greenberg Rebecca Jackson Barry Coller Eric Topol Lisa Guay-Woodford Marschall Runge Robert Clark Don McClain Harry Selker Curtis Lowery Steven Dubinett Lars Berglund Dan Cooper Gary Firestein S Clay Johnston Julian Solway James Heubi Ronald Sokol David Nelson Larry Tobacman Gary Rosenthal Lauren Aaronson Richard Barohn Philip Kern John Sullivan Thomas Shanley Bruce Blazar Richard Larson Garret FitzGerald Steven Reis Thomas Pearson Thomas Buchanan David McPherson Allan Brasier Robert Toto Mary Disis Marc Drezner Gordon Bernard John Clore Bradley Evanoff Julianne Imperato-McGinley Robert Sherwin Jill Pulley

Clin Transl Sci 2012 Apr 27;5(2):121-9. Epub 2012 Mar 27.

Albert Einstein College of Medicine (partnering with Montefi ore Medical Center)David Center.

View Article and Find Full Text PDF
April 2012

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

Authors:
Emilee Senkevitch Juan Cabrera-Luque Hiroki Morizono Ljubica Caldovic Mendel Tuchman

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.

View Article and Find Full Text PDF
June 2012

Transcriptional regulation of N-acetylglutamate synthase.

Authors:
Sandra Kirsch Heibel Giselle Yvette Lopez Maria Panglao Sonal Sodha Leonardo Mariño-Ramírez Mendel Tuchman Ljubica Caldovic

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.

View Article and Find Full Text PDF
August 2012

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

Authors:
Jill Joseph Mary Purucker Kolaleh Eskandanian Mark Batshaw Mendel Tuchman

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.

View Article and Find Full Text PDF
February 2012

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

Authors:
Dashuang Shi Xiaolin Yu Gengxiang Zhao Jeremy Ho Shennon Lu Norma M Allewell Mendel Tuchman

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.

View Article and Find Full Text PDF
May 2012

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

Authors:
Dashuang Shi Yongdong Li Juan Cabrera-Luque Zhongmin Jin Xiaolin Yu Gengxiang Zhao Nantaporn Haskins Norma M Allewell Mendel Tuchman

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.

View Article and Find Full Text PDF
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.

Authors:
Sandra K Heibel Nicholas Ah Mew Ljubica Caldovic Yevgeny Daikhin Marc Yudkoff Mendel Tuchman

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.

View Article and Find Full Text PDF
October 2011

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

Authors:
Yongdong Li Zhongmin Jin Xiaolin Yu Norma M Allewell Mendel Tuchman Dashuang Shi

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.

View Article and Find Full Text PDF
July 2011

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

Authors:
Itzhak Nissim Oksana Horyn Ilana Nissim Yevgeny Daikhin Ljubica Caldovic Belen Barcelona Javier Cervera Mendel Tuchman Marc Yudkoff

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.

View Article and Find Full Text PDF
June 2011