| NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells. | NAGS, CPS1, and SLC25A13 (Citrin) at the Crossroads of Arginine and Pyrimidines Metabolism in Tumor Cells.
Owusu-Ansah M, Guptan N, Alindogan D, Morizono M, Caldovic L., Free PMC Article | 04/17/2023 |
| Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. | Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene.
Häberle J, Moore MB, Haskins N, Rüfenacht V, Rokicki D, Rubio-Gozalbo E, Tuchman M, Longo N, Yandell M, Andrews A, AhMew N, Caldovic L., Free PMC Article | 04/9/2022 |
| Variation in the N-acetylglutamate Synthase Enhancer Region is associated with N-Acetylglutamate Synthase Deficiency. | N-Acetylglutamate Synthase Deficiency Due to a Recurrent Sequence Variant in the N-acetylglutamate Synthase Enhancer Region.
Williams M, Burlina A, Rubert L, Polo G, Ruijter GJG, van den Born M, Rüfenacht V, Haskins N, van Zutven LJCM, Tuchman M, Saris JJ, Häberle J, Caldovic L., Free PMC Article | 11/30/2019 |
| The specificity of the assay was validated by demonstrating a complete deficiency of NAGS in liver homogenates from Nags -/- mice. CONCLUSION: The novel NAGS enzyme assay reported herein can be used for the diagnosis of inherited NAGS deficiency and may also be of value in the study of secondary hyperammonemia present in various inborn errors of metabolism as well as drug treatment. | A novel UPLC-MS/MS based method to determine the activity of N-acetylglutamate synthase in liver tissue.
Dercksen M, Duran M, IJlst L, Kulik W, Ruiter JP, van Cruchten A, Tuchman M, Wanders RJ. | 12/16/2017 |
| Results identified 36 NAGS mutations in NAGSD patients; 61% of which are missense mutations. Phenotypes associated with these mutations in the GNAT domain are more severe than phenotypes of that of amino acid kinase domain. Enzyme activity and stability assays with 12 mutations, together with in silico structural analysis, support the pathogenic role of most NAGSD-associated mutations found. | Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J. | 12/16/2017 |
| Data indicate the formation of alternative N-acylglutamates by N-acetylglutamate synthase (NAGS). | Inhibition of N-acetylglutamate synthase by various monocarboxylic and dicarboxylic short-chain coenzyme A esters and the production of alternative glutamate esters.
Dercksen M, IJlst L, Duran M, Mienie LJ, van Cruchten A, van der Westhuizen FH, Wanders RJ. | 05/2/2015 |
| Sp1, CREB, HNF-1, and NF-Y, known to be responsive to hormones and diet, regulate NAGS transcription | Transcriptional regulation of N-acetylglutamate synthase.
Heibel SK, Lopez GY, Panglao M, Sodha S, Mariño-Ramírez L, Tuchman M, Caldovic L., Free PMC Article | 09/1/2012 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesGenetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
Hendrickson SL, Lautenberger JA, Chinn LW, Malasky M, Sezgin E, Kingsley LA, Goedert JJ, Kirk GD, Gomperts ED, Buchbinder SP, Troyer JL, O'Brien SJ. Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. | 09/15/2010 |
| NAGS deficiency in humans leads to hyperammonemia and can be primary, due to mutations in the NAGS gene or secondary due to other mitochondrial aberrations that interfere with the normal function of the same enzyme. | N-acetylglutamate synthase: structure, function and defects.
Caldovic L, Ah Mew N, Shi D, Morizono H, Yudkoff M, Tuchman M., Free PMC Article | 07/26/2010 |
| After the human NAGS gene was identified, mutation analysis revealed that the older sibling on NCG therapy was homozygous for a 971G>A (W324X) mutation. | Favourable long-term outcome after immediate treatment of neonatal hyperammonemia due to N-acetylglutamate synthase deficiency.
Gessler P, Buchal P, Schwenk HU, Wermuth B. | 03/22/2010 |
| Report patient with OCTN2 mutations/deficiency and N-acetylglutamate synthase deficiency. | Deficiency of the carnitine transporter (OCTN2) with partial N-acetylglutamate synthase (NAGS) deficiency.
Hwu WL, Chien YH, Tang NL, Law LK, Lin CY, Lee NC. | 01/21/2010 |
| This is the first comprehensive report of 21 mutations that cause NAGS deficiency and of commonly found polymorphisms in the NAGS gene. | Mutations and polymorphisms in the human N-acetylglutamate synthase (NAGS) gene.
Caldovic L, Morizono H, Tuchman M. | 01/21/2010 |
| The first mutation in NAGS has been reported in a family with carbamylglutamate responsive hyperammonemia and normal activity of the urea cycle enzymes. | N-acetylglutamate synthase deficiency and the treatment of hyperammonemic encephalopathy.
Elpeleg O, Shaag A, Ben-Shalom E, Schmid T, Bachmann C. | 01/21/2010 |
| Three novel mutations in the NAGS gene from the families affected by autosomal recessively inherited NAGS deficiency were described and characterized. | Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies.
Schmidt E, Nuoffer JM, Häberle J, Pauli S, Guffon N, Vianey-Saban C, Wermuth B, Koch HG. | 01/21/2010 |
| case with genetically verified NAGS deficiency and neonatal onset of severe hyperammonaemia | A trial with N-carbamylglutamate may not detect all patients with NAGS deficiency and neonatal onset.
Nordenström A, Halldin M, Hallberg B, Alm J. | 01/21/2010 |
| report two deleterious mutations within the NAGS gene found in two families with infants presenting with acute neonatal disease; finding confirms the genetic origin of NAGS deficiency | Null mutations in the N-acetylglutamate synthase gene associated with acute neonatal disease and hyperammonemia.
Caldovic L, Morizono H, Panglao MG, Cheng SF, Packman S, Tuchman M. | 01/21/2010 |
| first report of mutation analysis in a series of families affected with deficiency of NAGS | Mutation analysis in patients with N-acetylglutamate synthase deficiency.
Häberle J, Schmidt E, Pauli S, Kreuder JG, Plecko B, Galler A, Wermuth B, Harms E, Koch HG. | 01/21/2010 |
| The biochemical properties of purified recombinant human and mouse NAGS-M and NAGS-C were determined in this study with the goal of better understanding the role of the variable domain in NAGS function. | Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.
Caldovic L, Lopez GY, Haskins N, Panglao M, Shi D, Morizono H, Tuchman M. | 01/21/2010 |
| identification and cloning of the human NAGS gene, determination of its genomic structure, verification of the catalytic activity of the purified recombinant enzyme, and the distribution of NAGS mRNA in human tissues | Cloning and expression of the human N-acetylglutamate synthase gene.
Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M, Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M. | 01/21/2010 |
| 3 mutations in 2 families with NAGS deficiency revealed deleterious effects on NAGS affinity for substrates & the rate of catalysis. | Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.
Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. | 01/21/2010 |
| Gene product expressed in E. coli shown to have NAGS enzyme activity. Gene name provisionally was assigned as NAT7. | Cloning and expression of the human N-acetylglutamate synthase gene.
Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M, Caldovic L, Morizono H, Gracia Panglao M, Gallegos R, Yu X, Shi D, Malamy MH, Allewell NM, Tuchman M. | 04/9/2004 |