HL65217/HL/NHLBI NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
2001	1
2002	3
2003	2
2004	1
2005	2
2006	3
2007	1
2010	2
2025	0

1

Structural insights into mutations of cystathionine beta-synthase.

Meier M, Oliveriusova J, Kraus JP, Burkhard P. Meier M, et al. Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. doi: 10.1016/s1570-9639(03)00048-7. Biochim Biophys Acta. 2003. PMID: 12686134 Review.

2

The dominant role of Sp1 in regulating the cystathionine beta-synthase -1a and -1b promoters facilitates potential tissue-specific regulation by Kruppel-like factors.

Maclean KN, Kraus E, Kraus JP. Maclean KN, et al. J Biol Chem. 2004 Mar 5;279(10):8558-66. doi: 10.1074/jbc.M310211200. Epub 2003 Dec 11. J Biol Chem. 2004. PMID: 14670973 Free article.

3

Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region.

Janosík M, Kery V, Gaustadnes M, Maclean KN, Kraus JP. Janosík M, et al. Biochemistry. 2001 Sep 4;40(35):10625-33. doi: 10.1021/bi010711p. Biochemistry. 2001. PMID: 11524006

4

A novel transgenic mouse model of CBS-deficient homocystinuria does not incur hepatic steatosis or fibrosis and exhibits a hypercoagulative phenotype that is ameliorated by betaine treatment.

Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Overdier KH, Collard R, Brodsky GL, Meltesen L, Crnic LS, Allen RH, Stabler SP, Elleder M, Rozen R, Patterson D, Kraus JP. Maclean KN, et al. Mol Genet Metab. 2010 Oct-Nov;101(2-3):153-62. doi: 10.1016/j.ymgme.2010.06.010. Epub 2010 Jun 23. Mol Genet Metab. 2010. PMID: 20638879 Free PMC article.

5

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

Katsushima F, Oliveriusova J, Sakamoto O, Ohura T, Kondo Y, Iinuma K, Kraus E, Stouracova R, Kraus JP. Katsushima F, et al. Mol Genet Metab. 2006 Apr;87(4):323-8. doi: 10.1016/j.ymgme.2005.09.013. Epub 2005 Nov 22. Mol Genet Metab. 2006. PMID: 16307898

6

Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.

Oliveriusová J, Kery V, Maclean KN, Kraus JP. Oliveriusová J, et al. J Biol Chem. 2002 Dec 13;277(50):48386-94. doi: 10.1074/jbc.M207087200. Epub 2002 Oct 11. J Biol Chem. 2002. PMID: 12379655 Free article.

7

Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion.

Vyletal P, Sokolová J, Cooper DN, Kraus JP, Krawczak M, Pepe G, Rickards O, Koch HG, Linnebank M, Kluijtmans LA, Blom HJ, Boers GH, Gaustadnes M, Skovby F, Wilcken B, Wilcken DE, Andria G, Sebastio G, Naughten ER, Yap S, Ohura T, Pronicka E, Laszlo A, Kozich V. Vyletal P, et al. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

8

High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

Maclean KN, Gaustadnes M, Oliveriusová J, Janosík M, Kraus E, Kozich V, Kery V, Skovby F, Rüdiger N, Ingerslev J, Stabler SP, Allen RH, Kraus JP. Maclean KN, et al. Hum Mutat. 2002 Jun;19(6):641-55. doi: 10.1002/humu.10089. Hum Mutat. 2002. PMID: 12007221

9

High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

Bermúdez M, Frank N, Bernal J, Urreizti R, Briceño I, Merinero B, Perez-Cerdá C, Ugarte M, Grinberg D, Balcells S, Kraus JP. Bermúdez M, et al. Hum Mutat. 2006 Mar;27(3):296. doi: 10.1002/humu.9416. Hum Mutat. 2006. PMID: 16470595

10

Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.

Maclean KN, Janosík M, Kraus E, Kozich V, Allen RH, Raab BK, Kraus JP. Maclean KN, et al. J Cell Physiol. 2002 Jul;192(1):81-92. doi: 10.1002/jcp.10118. J Cell Physiol. 2002. PMID: 12115739

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