Search Results - "TUCHMAN, Mendel"

Genotype--Phenotype Correlations in Ornithine Transcarbamylase Deficiency： A Mutation Update by Caldovic, Ljubica, Abdikarim, Iman, Narain, Sahas, Tuchman, Mendel, Morizono, Hiroki

“…Ornithine transcarbamylase （OTC） deficiency is an X-linked trait that accounts for nearly half of all inherited disorders of the urea cycle. OTC is one of the…”
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Sources and Fates of Carbamyl Phosphate: A Labile Energy-Rich Molecule with Multiple Facets by Shi, Dashuang, Caldovic, Ljubica, Tuchman, Mendel

“…Carbamyl phosphate (CP) is well-known as an essential intermediate of pyrimidine and arginine/urea biosynthesis. Chemically, CP can be easily synthesized from…”
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Disease‐causing mutations in the promoter and enhancer of the ornithine transcarbamylase gene by Jang, Yoon J., LaBella, Abigail L., Feeney, Timothy P., Braverman, Nancy, Tuchman, Mendel, Morizono, Hiroki, Ah Mew, Nicholas, Caldovic, Ljubica

“…The ornithine transcarbamylase (OTC) gene is on the X chromosome and its product catalyzes the formation of citrulline from ornithine and carbamylphosphate in…”
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Clinical Outcomes of Neonatal Onset Proximal versus Distal Urea Cycle Disorders Do Not Differ by Ah Mew, Nicholas, MD, Krivitzky, Lauren, PhD, McCarter, Robert, ScD, Batshaw, Mark, MD, Tuchman, Mendel, MD

“…Objective To compare the clinical course and outcome of patients diagnosed with one of 4 neonatal-onset urea cycle disorders (UCDs): deficiency of carbamyl…”
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ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype by Lerner, Shaul, Eilam, Raya, Adler, Lital, Baruteau, Julien, Kreiser, Topaz, Tsoory, Michael, Brandis, Alexander, Mehlman, Tevie, Ryten, Mina, Botia, Juan A., Ruiz, Sonia Garcia, Garcia, Alejandro Cisterna, Dionisi-Vici, Carlo, Ranucci, Giusy, Spada, Marco, Mazkereth, Ram, McCarter, Robert, Izem, Rima, Balmat, Thomas J., Richesson, Rachel, Gazit, Ehud, Nagamani, Sandesh C. S., Erez, Ayelet

“…Argininosuccinate lyase (ASL) is essential for the NO-dependent regulation of tyrosine hydroxylase (TH) and thus for catecholamine production. Using a…”
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From Genome to Structure and Back Again: A Family Portrait of the Transcarbamylases by Shi, Dashuang, Allewell, Norma M, Tuchman, Mendel

“…Enzymes in the transcarbamylase family catalyze the transfer of a carbamyl group from carbamyl phosphate (CP) to an amino group of a second substrate. The two…”
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The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms by Shi, Dashuang, Allewell, Norma M, Tuchman, Mendel

“…N-acetylglutamate synthase (NAGS) catalyzes the production of N-acetylglutamate (NAG) from acetyl-CoA and L-glutamate. In microorganisms and plants, the enzyme…”
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Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane by Haskins, Nantaporn, Bhuvanendran, Shivaprasad, Anselmi, Claudio, Gams, Anna, Kanholm, Tomas, Kocher, Kristen M, LoTempio, Jonathan, Krohmaly, Kylie I, Sohai, Danielle, Stearrett, Nathaniel, Bonner, Erin, Tuchman, Mendel, Morizono, Hiroki, Jaiswal, Jyoti K, Caldovic, Ljubica

“…Mitochondrial enzymes involved in energy transformation are organized into multiprotein complexes that channel the reaction intermediates for efficient ATP…”
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N-acetylglutamate and its changing role through evolution by Caldovic, Ljubica, Tuchman, Mendel

“…N -Acetylglutamate (NAG) fulfils distinct biological roles in lower and higher organisms. In prokaryotes, lower eukaryotes and plants it is the first…”
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Mutations and polymorphisms in the human ornithine transcarbamylase (OTC) gene by Yamaguchi, Saori, Brailey, Lisa L., Morizono, Hiroki, Bale, Allen E., Tuchman, Mendel

“…Ornithine transcarbamylase (OTC) deficiency is the most common inherited disorder of the urea cycle and is transmitted as an X‐linked trait. Defects in the OTC…”
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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 by Zhao, Gengxiang, Jin, Zhongmin, Allewell, Norma M, Tuchman, Mendel, Shi, Dashuang

“…N-acetylglutamate synthase (NAGS) catalyzes the conversion of AcCoA and L-glutamate to CoA and N-acetyl-L-glutamate (NAG), an obligate cofactor for carbamyl…”
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Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase by Caldovic, Ljubica, Haskins, Nantaporn, Mumo, Amy, Majumdar, Himani, Pinter, Mary, Tuchman, Mendel, Krufka, Alison

“…The urea cycle converts ammonia, a waste product of protein catabolism, into urea. Because fish dispose ammonia directly into water, the role of the urea cycle…”
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Augmenting Ureagenesis in Patients with Partial Carbamyl Phosphate Synthetase 1 Deficiency with N-carbamyl- l -glutamate by Ah Mew, Nicholas, MD, McCarter, Robert, ScD, Daikhin, Yevgeny, PhD, Lichter-Konecki, Uta, MD, PhD, Nissim, Ilana, Yudkoff, Marc, MD, Tuchman, Mendel, MD

“…Identical studies using stable isotopes were performed before and after a 3-day trial of oral N -carbamyl- l -glutamate (NCG) in 5 subjects with late-onset…”
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Transcriptional regulation of N-acetylglutamate synthase by Heibel, Sandra Kirsch, Lopez, Giselle Yvette, Panglao, Maria, Sodha, Sonal, Mariño-Ramírez, Leonardo, Tuchman, Mendel, Caldovic, Ljubica

“…The urea cycle converts toxic ammonia to urea within the liver of mammals. At least 6 enzymes are required for ureagenesis, which correlates with dietary…”
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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 by Heibel, Sandra K., Ah Mew, Nicholas, Caldovic, Ljubica, Daikhin, Yevgeny, Yudkoff, Marc, Tuchman, Mendel

“…N‐acetylglutamate synthase (NAGS) catalyzes the conversion of glutamate and acetyl‐CoA to NAG, the essential allosteric activator of carbamyl phosphate…”
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Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene by Caldovic, Ljubica, Morizono, Hiroki, Tuchman, Mendel

“…N‐acetylglutamate synthase (NAGS) deficiency, an autosomal recessive disorder, is the last urea cycle disorder for which molecular testing became available…”
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Screening of Infants and Mortality Due to Neuroblastoma by Woods, William G, Gao, Ru-Nie, Shuster, Jonathan J, Robison, Leslie L, Bernstein, Mark, Weitzman, Sheila, Bunin, Greta, Levy, Isra, Brossard, Josee, Dougherty, Geoffrey, Tuchman, Mendel, Lemieux, Bernard

“…Neuroblastoma is the most common extracranial solid tumor in early childhood and can be identified in preclinical stages by detection of catecholamines in the…”
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The Crystal Structure of N-Acetyl-L-glutamate Synthase from Neisseria gonorrhoeae Provides Insights into Mechanisms of Catalysis and Regulation by Shi, Dashuang, Sagar, Vatsala, Jin, Zhongmin, Yu, Xiaolin, Caldovic, Ljubica, Morizono, Hiroki, Allewell, Norma M., Tuchman, Mendel

“…The crystal structures of N-acetylglutamate synthase (NAGS) in the arginine biosynthetic pathway of Neisseria gonorrhoeae complexed with acetyl-CoA and with…”
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Alternative pathway therapy for urea cycle disorders: Twenty years later by Batshaw, Mark L., MacArthur, Robert B., Tuchman, Mendel

“…Alternative pathway therapy is currently an accepted treatment approach for inborn errors of the urea cycle. This involves the long-term use of oral sodium…”
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Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium by Seminara, Jennifer, Tuchman, Mendel, Krivitzky, Lauren, Krischer, Jeffrey, Lee, Hye-Seung, LeMons, Cynthia, Baumgartner, Matthias, Cederbaum, Stephen, Diaz, George A., Feigenbaum, Annette, Gallagher, Renata C., Harding, Cary O., Kerr, Douglas S., Lanpher, Brendan, Lee, Brendan, Lichter-Konecki, Uta, McCandless, Shawn E., Merritt, J. Lawrence, Oster-Granite, Mary Lou, Seashore, Margretta R., Stricker, Tamar, Summar, Marshall, Waisbren, Susan, Yudkoff, Marc, Batshaw, Mark L.

“…The Urea Cycle Disorders Consortium (UCDC) was created as part of a larger network established by the National Institutes of Health to study rare diseases…”
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