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Miroslav Janosík

Research Profile

Chemicals & Drugs

Disorders

Homocystinuria

Physiology

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Czech Republic

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Publications

TOP 3
Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jan Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Miroslav Janosík; Jitka Sokolová; Bohumila Janosíková; Jan Krijt; Veronika Klatovská; Viktor Kozich
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.
Kenneth N Maclean; Miroslav Janosík; Eva Kraus; Viktor Kozich; Robert H Allen; Beverly K Raab; Jan P Kraus
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.

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All Publications

2010: Viktor Kozich; Jitka Sokolová; Veronika Klatovská; Jan Krijt; Miroslav Janosík; Karel Jelínek; Jan P Kraus
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Human mutation 2010;31(7):809-19.
2009: Miroslav Janosík; Jitka Sokolová; Bohumila Janosíková; Jan Krijt; Veronika Klatovská; Viktor Kozich
Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene.
The Journal of pediatrics 2009;154(3):431-7.
2002: Kenneth N Maclean; Miroslav Janosík; Eva Kraus; Viktor Kozich; Robert H Allen; Beverly K Raab; Jan P Kraus
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.
Journal of cellular physiology 2002;192(1):81-92.
2002: Kenneth N Maclean; Mette Gaustadnes; Jana Oliveriusová; Miroslav Janosík; Eva Kraus; Viktor Kozich; Vladimir Kery; Flemming Skovby; Niels Rüdiger; Jørgen Ingerslev; Sally P Stabler; Robert H Allen; Jan P Kraus
High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.
Human mutation 2002;19(6):641-55.
2001: Miroslav Janosík; Vladimir Kery; Mette Gaustadnes; Kenneth N Maclean; Jan P Kraus
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.
Biochemistry 2001;40(35):10625-33.
2001: Miroslav Janosík; Jana Oliveriusová; Bohumila Janosíková; Jitka Sokolová; Eva Kraus; Jan P Kraus; Viktor Kozich
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.
American journal of human genetics 2001;68(6):1506-13.
2000: Kenneth N Maclean; Miroslav Janosík; Jana Oliveriusová; Vladimir Kery; Jan P Kraus
Transsulfuration in Saccharomyces cerevisiae is not dependent on heme: purification and characterization of recombinant yeast cystathionine beta-synthase.
Journal of inorganic biochemistry 2000;81(3):161-71.
1999: Jan P Kraus; Miroslav Janosík; Viktor Kozich; R Mandell; Vivian E Shih; Maria Pia Sperandeo; Gianfranco Sebastio; Raffaella de Franchis; Generoso Andria; Leo A J Kluijtmans; H Blom; Godfried H J Boers; Ross B Gordon; P Kamoun; M Y Tsai; warren kruger; Hans Georg Koch; T Ohura; Mette Gaustadnes
Cystathionine beta-synthase mutations in homocystinuria.
Human mutation 1999;13(5):362-75.
1997: Viktor Kozich; Miroslav Janosík; Jitka Sokolová; Jana Oliveriusová; M Orendác; Jan P Kraus; Daniel Elleder
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Journal of inherited metabolic disease 1997;20(3):363-6.