Kraus JP - Search Results

1

Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

Kozich V, Kraus JP. Kozich V, et al. Among authors: kraus jp. Hum Mutat. 1992;1(2):113-23. doi: 10.1002/humu.1380010206. Hum Mutat. 1992. PMID: 1301198

2

The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

Linnebank M, Janosik M, Kozich V, Pronicka E, Kubalska J, Sokolova J, Linnebank A, Schmidt E, Leyendecker C, Klockgether T, Kraus JP, Koch HG. Linnebank M, et al. Among authors: kraus jp. Hum Mutat. 2004 Oct;24(4):352-3. doi: 10.1002/humu.9280. Hum Mutat. 2004. PMID: 15365998

3

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. Among authors: kraus jp, kraus e. Hum Mutat. 2002 Jun;19(6):641-55. doi: 10.1002/humu.10089. Hum Mutat. 2002. PMID: 12007221

4

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. Among authors: kraus jp, kraus e. J Cell Physiol. 2002 Jul;192(1):81-92. doi: 10.1002/jcp.10118. J Cell Physiol. 2002. PMID: 12115739

5

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. Among authors: kraus jp. Hum Mutat. 2007 Mar;28(3):255-64. doi: 10.1002/humu.20430. Hum Mutat. 2007. PMID: 17072863 Free PMC article.

6

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

Kozich V, Sokolová J, Klatovská V, Krijt J, Janosík M, Jelínek K, Kraus JP. Kozich V, et al. Among authors: kraus jp. Hum Mutat. 2010 Jul;31(7):809-19. doi: 10.1002/humu.21273. Hum Mutat. 2010. PMID: 20506325 Free PMC article.

7

Cystathionine beta-synthase null homocystinuric mice fail to exhibit altered hemostasis or lowering of plasma homocysteine in response to betaine treatment.

Maclean KN, Sikora J, Kožich V, Jiang H, Greiner LS, Kraus E, Krijt J, Crnic LS, Allen RH, Stabler SP, Elleder M, Kraus JP. Maclean KN, et al. Among authors: kraus jp, kraus e. Mol Genet Metab. 2010 Oct-Nov;101(2-3):163-71. doi: 10.1016/j.ymgme.2010.06.007. Epub 2010 Jun 22. Mol Genet Metab. 2010. PMID: 20638882 Free PMC article.

8

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.

Majtan T, Pey AL, Gimenez-Mascarell P, Martínez-Cruz LA, Szabo C, Kožich V, Kraus JP. Majtan T, et al. Among authors: kraus jp. Handb Exp Pharmacol. 2018;245:345-383. doi: 10.1007/164_2017_72. Handb Exp Pharmacol. 2018. PMID: 29119254 Review.

9

Pyridoxine responsive and unresponsive homocystinuria.

Kraus JP, Kozich V. Kraus JP, et al. J Nutr Sci Vitaminol (Tokyo). 1992;Spec No:589-92. doi: 10.3177/jnsv.38.special_589. J Nutr Sci Vitaminol (Tokyo). 1992. PMID: 1297819 No abstract available.

10

Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

Hu FL, Gu Z, Kozich V, Kraus JP, Ramesh V, Shih VE. Hu FL, et al. Among authors: kraus jp. Hum Mol Genet. 1993 Nov;2(11):1857-60. doi: 10.1093/hmg/2.11.1857. Hum Mol Genet. 1993. PMID: 7506602

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