Caldovic L - 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: caldovic l. 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

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. Caldovic L, et al. Biochem J. 2002 Jun 15;364(Pt 3):825-31. doi: 10.1042/BJ20020161. Biochem J. 2002. PMID: 12049647 Free PMC article.

3

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, et al. Biochem Biophys Res Commun. 2002 Dec 13;299(4):581-6. doi: 10.1016/s0006-291x(02)02696-7. Biochem Biophys Res Commun. 2002. PMID: 12459178

4

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. Caldovic L, et al. Hum Genet. 2003 Apr;112(4):364-8. doi: 10.1007/s00439-003-0909-5. Epub 2003 Feb 20. Hum Genet. 2003. PMID: 12594532

5

N-acetylglutamate and its changing role through evolution.

Caldovic L, Tuchman M. Caldovic L, et al. Biochem J. 2003 Jun 1;372(Pt 2):279-90. doi: 10.1042/BJ20030002. Biochem J. 2003. PMID: 12633501 Free PMC article. Review.

6

Mammalian N-acetylglutamate synthase.

Morizono H, Caldovic L, Shi D, Tuchman M. Morizono H, et al. Among authors: caldovic l. Mol Genet Metab. 2004 Apr;81 Suppl 1(Suppl 1):S4-11. doi: 10.1016/j.ymgme.2003.10.017. Mol Genet Metab. 2004. PMID: 15050968 Free PMC article. Review.

7

Restoration of ureagenesis in N-acetylglutamate synthase deficiency by N-carbamylglutamate.

Caldovic L, Morizono H, Daikhin Y, Nissim I, McCarter RJ, Yudkoff M, Tuchman M. Caldovic L, et al. J Pediatr. 2004 Oct;145(4):552-4. doi: 10.1016/j.jpeds.2004.06.047. J Pediatr. 2004. PMID: 15480384

8

Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles.

Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. Caldovic L, et al. Hum Mutat. 2005 Mar;25(3):293-8. doi: 10.1002/humu.20146. Hum Mutat. 2005. PMID: 15714518

9

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. Mol Genet Metab. 2006 Mar;87(3):226-32. doi: 10.1016/j.ymgme.2005.10.003. Mol Genet Metab. 2006. PMID: 16321554

10

Expression, crystallization and preliminary crystallographic studies of a novel bifunctional N-acetylglutamate synthase/kinase from Xanthomonas campestris homologous to vertebrate N-acetylglutamate synthase.

Shi D, Caldovic L, Jin Z, Yu X, Qu Q, Roth L, Morizono H, Hathout Y, Allewell NM, Tuchman M. Shi D, et al. Among authors: caldovic l. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2006 Dec 1;62(Pt 12):1218-22. doi: 10.1107/S1744309106044101. Epub 2006 Nov 30. Acta Crystallogr Sect F Struct Biol Cryst Commun. 2006. PMID: 17142901 Free PMC article.

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