Haskins N - Search Results

1

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. Häberle J, et al. Among authors: haskins n. Hum Mutat. 2021 Dec;42(12):1624-1636. doi: 10.1002/humu.24281. Epub 2021 Sep 24. Hum Mutat. 2021. PMID: 34510628 Free PMC article.

2

Biochemical properties of recombinant human and mouse N-acetylglutamate synthase.

Caldovic L, Lopez GY, Haskins N, Panglao M, Shi D, Morizono H, Tuchman M. Caldovic L, et al. Among authors: haskins n. Mol Genet Metab. 2006 Mar;87(3):226-32. doi: 10.1016/j.ymgme.2005.10.003. Mol Genet Metab. 2006. PMID: 16321554

3

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. Williams M, et al. Among authors: haskins n. Sci Rep. 2018 Oct 18;8(1):15436. doi: 10.1038/s41598-018-33457-0. Sci Rep. 2018. PMID: 30337552 Free PMC article.

4

Effect of arginine on oligomerization and stability of N-acetylglutamate synthase.

Haskins N, Mumo A, Brown PH, Tuchman M, Morizono H, Caldovic L. Haskins N, et al. Sci Rep. 2016 Dec 9;6:38711. doi: 10.1038/srep38711. Sci Rep. 2016. PMID: 27934952 Free PMC article.

5

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. Sonaimuthu P, et al. Among authors: haskins n. Sci Rep. 2021 Feb 11;11(1):3580. doi: 10.1038/s41598-021-82994-8. Sci Rep. 2021. PMID: 33574402 Free PMC article.

6

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. Haskins N, et al. BMC Biochem. 2008 Sep 18;9:24. doi: 10.1186/1471-2091-9-24. BMC Biochem. 2008. PMID: 18801197 Free PMC article.

7

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

Caldovic L, Haskins N, Mumo A, Majumdar H, Pinter M, Tuchman M, Krufka A. Caldovic L, et al. Among authors: haskins n. PLoS One. 2014 Jan 22;9(1):e85597. doi: 10.1371/journal.pone.0085597. eCollection 2014. PLoS One. 2014. PMID: 24465614 Free PMC article.

8

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

Shi D, Li Y, Cabrera-Luque J, Jin Z, Yu X, Zhao G, Haskins N, Allewell NM, Tuchman M. Shi D, et al. Among authors: haskins n. PLoS One. 2011;6(12):e28825. doi: 10.1371/journal.pone.0028825. Epub 2011 Dec 12. PLoS One. 2011. PMID: 22174908 Free PMC article.

9

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

Zhao G, Haskins N, Jin Z, M Allewell N, Tuchman M, Shi D. Zhao G, et al. Among authors: haskins n. Biochem Biophys Res Commun. 2013 Aug 9;437(4):585-90. doi: 10.1016/j.bbrc.2013.07.003. Epub 2013 Jul 10. Biochem Biophys Res Commun. 2013. PMID: 23850694 Free PMC article.

10

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

Heibel SK, McGuire PJ, Haskins N, Majumdar HD, Rayavarapu S, Nagaraju K, Hathout Y, Brown K, Tuchman M, Caldovic L. Heibel SK, et al. Among authors: haskins n. J Inherit Metab Dis. 2019 Nov;42(6):1088-1096. doi: 10.1002/jimd.12133. Epub 2019 Aug 1. J Inherit Metab Dis. 2019. PMID: 31177541 Free PMC article.

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