Marc Yudkoff Department of Pediatrics The Children's Hospital of Philadelphia Biography Publications Institution JoVE Articles Marc Yudkoff has not added a biography. If you are Marc Yudkoff and would like to personalize this page please email our Author Liaison for assistance. Publications The Glutamate Transporter, GLAST, Participates in a Macromolecular Complex That Supports Glutamate Metabolism Neurochemistry International. Jan, 2012 | Pubmed ID: 22306776 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 Human Mutation. Oct, 2011 | Pubmed ID: 21681857 Down-regulation of Hepatic Urea Synthesis by Oxypurines: Xanthine and Uric Acid Inhibit N-acetylglutamate Synthase The Journal of Biological Chemistry. Jun, 2011 | Pubmed ID: 21540182 N-carbamylglutamate Augments Ureagenesis and Reduces Ammonia and Glutamine in Propionic Acidemia Pediatrics. Jul, 2010 | Pubmed ID: 20566609 Measuring in Vivo Ureagenesis with Stable Isotopes Molecular Genetics and Metabolism. 2010 | Pubmed ID: 20338795 N-acetylglutamate Synthase: Structure, Function and Defects Molecular Genetics and Metabolism. 2010 | Pubmed ID: 20303810 Establishing a Consortium for the Study of Rare Diseases: The Urea Cycle Disorders Consortium Molecular Genetics and Metabolism. 2010 | Pubmed ID: 20188616 Inflammation-induced Preterm Birth Alters Neuronal Morphology in the Mouse Fetal Brain Journal of Neuroscience Research. Jul, 2010 | Pubmed ID: 20155801 Very Long-chain Acyl-CoA Dehydrogenase Deficiency in a Patient with Normal Newborn Screening by Tandem Mass Spectrometry The Journal of Pediatrics. Mar, 2010 | Pubmed ID: 20056241 Effects of a Single Dose of N-carbamylglutamate on the Rate of Ureagenesis Molecular Genetics and Metabolism. Dec, 2009 | Pubmed ID: 19660971 Ketosis and Brain Handling of Glutamate, Glutamine, and GABA Epilepsia. Nov, 2008 | Pubmed ID: 19049594 Myc Regulates a Transcriptional Program That Stimulates Mitochondrial Glutaminolysis and Leads to Glutamine Addiction Proceedings of the National Academy of Sciences of the United States of America. Dec, 2008 | Pubmed ID: 19033189 Cross-sectional Multicenter Study of Patients with Urea Cycle Disorders in the United States Molecular Genetics and Metabolism. Aug, 2008 | Pubmed ID: 18562231 Complex Management of a Patient with a Contiguous Xp11.4 Gene Deletion Involving Ornithine Transcarbamylase: a Role for Detailed Molecular Analysis in Complex Presentations of Classical Diseases Molecular Genetics and Metabolism. Aug, 2008 | Pubmed ID: 18524659 Elimination of KATP Channels in Mouse Islets Results in Elevated [U-13C]glucose Metabolism, Glutaminolysis, and Pyruvate Cycling but a Decreased Gamma-aminobutyric Acid Shunt The Journal of Biological Chemistry. Jun, 2008 | Pubmed ID: 18445600 Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease PLoS Genetics. Apr, 2008 | Pubmed ID: 18437205 N-carbamylglutamate Markedly Enhances Ureagenesis in N-acetylglutamate Deficiency and Propionic Acidemia As Measured by Isotopic Incorporation and Blood Biomarkers Pediatric Research. Aug, 2008 | Pubmed ID: 18414145 3-isobutylmethylxanthine Inhibits Hepatic Urea Synthesis: Protection by Agmatine The Journal of Biological Chemistry. May, 2008 | Pubmed ID: 18375388 1H MRS Allows Brain Phenotype Differentiation in Sisters with Late Onset Ornithine Transcarbamylase Deficiency (OTCD) and Discordant Clinical Presentations Molecular Genetics and Metabolism. May, 2008 | Pubmed ID: 18262815 Beyond Aerobic Glycolysis: Transformed Cells Can Engage in Glutamine Metabolism That Exceeds the Requirement for Protein and Nucleotide Synthesis Proceedings of the National Academy of Sciences of the United States of America. Dec, 2007 | Pubmed ID: 18032601 The Ketogenic Diet and Brain Metabolism of Amino Acids: Relationship to the Anticonvulsant Effect Annual Review of Nutrition. 2007 | Pubmed ID: 17444813 Evaluation of Formulas for Calculating Total Energy Requirements of Preadolescent Children with Cystic Fibrosis The American Journal of Clinical Nutrition. Jan, 2007 | Pubmed ID: 17209190 Energy Balance and the Accuracy of Reported Energy Intake in Preadolescent Children with Cystic Fibrosis The American Journal of Clinical Nutrition. Sep, 2006 | Pubmed ID: 16960165 Ifosfamide-induced Nephrotoxicity: Mechanism and Prevention Cancer Research. Aug, 2006 | Pubmed ID: 16885387 Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice The Journal of Biological Chemistry. Jun, 2006 | Pubmed ID: 16574664 Short-term Fasting, Seizure Control and Brain Amino Acid Metabolism Neurochemistry International. May-Jun, 2006 | Pubmed ID: 16510212 Agmatine Stimulates Hepatic Fatty Acid Oxidation: a Possible Mechanism for Up-regulation of Ureagenesis The Journal of Biological Chemistry. Mar, 2006 | Pubmed ID: 16452488 Botulinum Toxin Type a Injections to Salivary Glands: Combination with Single Event Multilevel Chemoneurolysis in 2 Children with Severe Spastic Quadriplegic Cerebral Palsy Archives of Physical Medicine and Rehabilitation. Jan, 2006 | Pubmed ID: 16401453 Brain Amino Acid Requirements and Toxicity: the Example of Leucine The Journal of Nutrition. Jun, 2005 | Pubmed ID: 15930465 Response of Brain Amino Acid Metabolism to Ketosis Neurochemistry International. Jul, 2005 | Pubmed ID: 15888376 The Role of Mitochondrially Bound Arginase in the Regulation of Urea Synthesis: Studies with [U-15N4]arginine, Isolated Mitochondria, and Perfused Rat Liver The Journal of Biological Chemistry. May, 2005 | Pubmed ID: 15753084 Biosynthesis of Agmatine in Isolated Mitochondria and Perfused Rat Liver: Studies with 15N-labelled Arginine The Biochemical Journal. Jun, 2005 | Pubmed ID: 15656789 Restoration of Ureagenesis in N-acetylglutamate Synthase Deficiency by N-carbamylglutamate The Journal of Pediatrics. Oct, 2004 | Pubmed ID: 15480384 Ketogenic Diet, Brain Glutamate Metabolism and Seizure Control Prostaglandins, Leukotrienes, and Essential Fatty Acids. Mar, 2004 | Pubmed ID: 14769486 A Signaling Role of Glutamine in Insulin Secretion The Journal of Biological Chemistry. Apr, 2004 | Pubmed ID: 14736887 Role of the Glutamate Dehydrogenase Reaction in Furnishing Aspartate Nitrogen for Urea Synthesis: Studies in Perfused Rat Liver with 15N The Biochemical Journal. Nov, 2003 | Pubmed ID: 12935293 Metabolism of Brain Amino Acids Following Pentylenetetrazole Treatment Epilepsy Research. Feb, 2003 | Pubmed ID: 12576176 Regulation of Leucine-stimulated Insulin Secretion and Glutamine Metabolism in Isolated Rat Islets The Journal of Biological Chemistry. Jan, 2003 | Pubmed ID: 12444083 Regulation of Urea Synthesis by Agmatine in the Perfused Liver: Studies with 15N American Journal of Physiology. Endocrinology and Metabolism. Dec, 2002 | Pubmed ID: 12388162 Mental Retardation Research Center: Children's Hospital of Philadelphia & University of Pennsylvania International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience. Jun-Aug, 2002 | Pubmed ID: 12175883 A Pilot Study of in Vivo Liver-directed Gene Transfer with an Adenoviral Vector in Partial Ornithine Transcarbamylase Deficiency Human Gene Therapy. Jan, 2002 | Pubmed ID: 11779420 Kararlı İzotopik Profil geliştirilmesi ve Yetişkin Sahne Aracı Metabolik Akı Caenorhabditis elegans Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology
Kararlı İzotopik Profil geliştirilmesi ve Yetişkin Sahne Aracı Metabolik Akı Caenorhabditis elegans Marni J. Falk1,2, Meera Rao*1, Julian Ostrovsky*1, Evgueni Daikhin1, Ilana Nissim1, Marc Yudkoff1,2 1Department of Pediatrics, The Children's Hospital of Philadelphia, 2Department of Pediatrics, University of Pennsylvania JoVE 2288 Biology