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Cystathionine beta-synthase
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Ing. Miroslav Janošík
External person at First Faculty of Medicine
16 publications
Publications
publication
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate
2015 |
First Faculty of Medicine
publication
Identification and functional analysis of two novel mutations in CBS gene in Polish patients with homocystinuria
2004 |
First Faculty of Medicine
publication
Identification and Functional Analysis of Two Novel Mutations in the CBS Gene in Polish Patients with Homocystinuria
2004 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
First Faculty of Medicine
publication
The cystathionine beta-synthase (CBS) mutation c. 1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype
2004 |
Faculty of Physical Education and Sport
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
First Faculty of Medicine
publication
Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisae
2002 |
Faculty of Physical Education and Sport
publication
Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria
2001 |
First Faculty of Medicine
publication
Regulation of Human Cystathionine beta-Synthase by S-Adenosyl-L-methionine: Evidence for Two Catalytically Active Conformations Involving an Autoinhibitory Domain in the C-Therminal Region
2001 |
First Faculty of Medicine
publication
Structure of human cystathionine beta-synthase: a unique pyridoxal 5´-phosphate-dependent heme protein
2001 |
First Faculty of Medicine
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