BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

275 related articles for article (PubMed ID: 23776373)

  • 1. N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.
    Ah Mew N; Caldovic L
    Appl Clin Genet; 2011; 4():127-35. PubMed ID: 23776373
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency.
    Häberle J
    Ther Clin Risk Manag; 2011; 7():327-32. PubMed ID: 21941437
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Expression pattern and biochemical properties of zebrafish N-acetylglutamate synthase.
    Caldovic L; Haskins N; Mumo A; Majumdar H; Pinter M; Tuchman M; Krufka A
    PLoS One; 2014; 9(1):e85597. PubMed ID: 24465614
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Hum Mutat; 2021 Dec; 42(12):1624-1636. PubMed ID: 34510628
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mitochondrial Enzymes of the Urea Cycle Cluster at the Inner Mitochondrial Membrane.
    Haskins N; Bhuvanendran S; Anselmi C; Gams A; Kanholm T; Kocher KM; LoTempio J; Krohmaly KI; Sohai D; Stearrett N; Bonner E; Tuchman M; Morizono H; Jaiswal JK; Caldovic L
    Front Physiol; 2020; 11():542950. PubMed ID: 33551825
    [TBL] [Abstract][Full Text] [Related]  

  • 6.
    Owusu-Ansah M; Guptan N; Alindogan D; Morizono M; Caldovic L
    Int J Mol Sci; 2023 Apr; 24(7):. PubMed ID: 37047726
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Gene delivery corrects N-acetylglutamate synthase deficiency and enables insights in the physiological impact of L-arginine activation of N-acetylglutamate synthase.
    Sonaimuthu P; Senkevitch E; Haskins N; Uapinyoying P; McNutt M; Morizono H; Tuchman M; Caldovic L
    Sci Rep; 2021 Feb; 11(1):3580. PubMed ID: 33574402
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    Mol Genet Metab; 2016 Dec; 119(4):307-310. PubMed ID: 27771289
    [TBL] [Abstract][Full Text] [Related]  

  • 9. N-acetylglutamate synthase deficiency: Novel mutation associated with neonatal presentation and literature review of molecular and phenotypic spectra.
    Al Kaabi EH; El-Hattab AW
    Mol Genet Metab Rep; 2016 Sep; 8():94-8. PubMed ID: 27570737
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Datamining approaches for examining the low prevalence of N-acetylglutamate synthase deficiency and understanding transcriptional regulation of urea cycle genes.
    Caldovic L; Ahn JJ; Andricovic J; Balick VM; Brayer M; Chansky PA; Dawson T; Edwards AC; Felsen SE; Ismat K; Jagannathan SV; Mann BT; Medina JA; Morizono T; Morizono M; Salameh S; Vashist N; Williams EC; Zhou Z; Morizono H
    J Inherit Metab Dis; 2023 Oct; ():. PubMed ID: 37847851
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Carglumic acid for the treatment of N-acetylglutamate synthase deficiency and acute hyperammonemia.
    Häberle J
    Expert Rev Endocrinol Metab; 2012 May; 7(3):263-271. PubMed ID: 30780843
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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
    Sci Rep; 2018 Oct; 8(1):15436. PubMed ID: 30337552
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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
    Biochem Biophys Res Commun; 2002 Dec; 299(4):581-6. PubMed ID: 12459178
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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.
    Zhao G; Jin Z; Allewell NM; Tuchman M; Shi D
    PLoS One; 2013; 8(7):e70369. PubMed ID: 23894642
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Use of pure recombinant human enzymes to assess the disease-causing potential of missense mutations in urea cycle disorders, applied to N-acetylglutamate synthase deficiency.
    Gougeard N; Sancho-Vaello E; Fernández-Murga ML; Martínez-Sinisterra B; Loukili-Hassani B; Häberle J; Marco-Marín C; Rubio V
    J Inherit Metab Dis; 2024 May; ():. PubMed ID: 38740568
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification, cloning and expression of the mouse N-acetylglutamate synthase gene.
    Caldovic L; Morizono H; Yu X; Thompson M; Shi D; Gallegos R; Allewell NM; Malamy MH; Tuchman M
    Biochem J; 2002 Jun; 364(Pt 3):825-31. PubMed ID: 12049647
    [TBL] [Abstract][Full Text] [Related]  

  • 17. The N-Acetylglutamate Synthase Family: Structures, Function and Mechanisms.
    Shi D; Allewell NM; Tuchman M
    Int J Mol Sci; 2015 Jun; 16(6):13004-22. PubMed ID: 26068232
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Inversion of allosteric effect of arginine on N-acetylglutamate synthase, a molecular marker for evolution of tetrapods.
    Haskins N; Panglao M; Qu Q; Majumdar H; Cabrera-Luque J; Morizono H; Tuchman M; Caldovic L
    BMC Biochem; 2008 Sep; 9():24. PubMed ID: 18801197
    [TBL] [Abstract][Full Text] [Related]  

  • 19. N-acetylglutamate synthase: structure, function and defects.
    Caldovic L; Ah Mew N; Shi D; Morizono H; Yudkoff M; Tuchman M
    Mol Genet Metab; 2010; 100 Suppl 1(Suppl 1):S13-9. PubMed ID: 20303810
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel bifunctional N-acetylglutamate synthase-kinase from Xanthomonas campestris that is closely related to mammalian N-acetylglutamate synthase.
    Qu Q; Morizono H; Shi D; Tuchman M; Caldovic L
    BMC Biochem; 2007 Apr; 8():4. PubMed ID: 17425781
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.