Viktor Kozich

Summary

Affiliation: Charles University
Country: Czech Republic

Publications

  1. pmc Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits
    Katrin Kepp
    Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
    BMC Med Genet 11:15. 2010
  2. pmc Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1
    Katrin Kepp
    Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
    BMC Med Genet 8:47. 2007
  3. pmc Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity
    Viktor Kozich
    First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    Hum Mutat 31:809-19. 2010
  4. pmc Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene
    Miroslav Janosik
    Institute of Inherited Metabolic Disorders, Charles University in Prague 1st Faculty of Medicine, Prague, Czech Republic
    J Pediatr 154:431-7. 2009
  5. doi request reprint Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
    Tomas Honzik
    First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, Czech Republic
    Mol Genet Metab 107:611-3. 2012
  6. pmc Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones
    Jana Kopecká
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Praha, Czech Republic
    J Inherit Metab Dis 34:39-48. 2011
  7. pmc Conformational properties of nine purified cystathionine β-synthase mutants
    Ales Hnizda
    Charles University, Prague, Czech Republic
    Biochemistry 51:4755-63. 2012
  8. pmc Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
    Ales Hnizda
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    J Inherit Metab Dis 35:469-77. 2012
  9. doi request reprint Rare allelic variants determine folate status in an unsupplemented European population
    Marketa Pavlikova
    Department of Medical Informatics, Institute of Computer Science of the Academy of Sciences of the Czech Republic, Prague, Czech Republic
    J Nutr 142:1403-9. 2012
  10. pmc Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
    Jakub Krijt
    Institute of Inherited Metabolic Disorders 1st Faculty of Medicine, Charles University in Prague, Praha, Czech Republic
    J Inherit Metab Dis 34:49-55. 2011

Collaborators

Detail Information

Publications25

  1. pmc Hypervariable intronic region in NCX1 is enriched in short insertion-deletion polymorphisms and showed association with cardiovascular traits
    Katrin Kepp
    Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
    BMC Med Genet 11:15. 2010
    ..Conserved non-coding regions (CNR) have been shown to harbor gene expression regulatory elements. Genetic variations in these regions may potentially contribute to complex disease susceptibility...
  2. pmc Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1
    Katrin Kepp
    Department of Biotechnology, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia
    BMC Med Genet 8:47. 2007
    ..One candidate gene is PNMT, coding for phenylethanolamine-N-methyltransferase, catalyzing the synthesis of epinephrine from norepinephrine...
  3. pmc Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity
    Viktor Kozich
    First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Institute of Inherited Metabolic Disorders, Prague, Czech Republic
    Hum Mutat 31:809-19. 2010
    ..In summary, our results show that topology of mutations predicts in part the behavior of mutant CBS, and that misfolding may be an important and frequent pathogenic mechanism in CBS deficiency...
  4. pmc Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene
    Miroslav Janosik
    Institute of Inherited Metabolic Disorders, Charles University in Prague 1st Faculty of Medicine, Prague, Czech Republic
    J Pediatr 154:431-7. 2009
    ..To estimate the frequency of the cystathionine beta-synthase deficiency caused by c.1105C>T mutation in Central Europe compared to Norway, and to examine the pathogenicity of the corresponding p.R369C mutant enzyme...
  5. doi request reprint Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency
    Tomas Honzik
    First Faculty of Medicine, Institute of Inherited Metabolic Disorders, Charles University in Prague and General University Hospital in Prague, Czech Republic
    Mol Genet Metab 107:611-3. 2012
    ..145C>T (p.R49C) and a novel variant c.211G>A (p.G71S) in the AHCY gene. Retrospective analysis of clinical features revealed striking similarities between SAHH deficiency and the PMM2-CDG Ia...
  6. pmc Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones
    Jana Kopecká
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Praha, Czech Republic
    J Inherit Metab Dis 34:39-48. 2011
    ..This study identified chaperone-responsive mutants that represent 56 of 713 known patient-derived CBS alleles and may serve as a basis for exploring pharmacological approaches aimed at correcting misfolding in homocystinuria...
  7. pmc Conformational properties of nine purified cystathionine β-synthase mutants
    Ales Hnizda
    Charles University, Prague, Czech Republic
    Biochemistry 51:4755-63. 2012
    ..This study demonstrates that the proteolytic techniques are useful tools for the assessment of the biochemical penalty of missense mutations in CBS...
  8. pmc Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts
    Ales Hnizda
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    J Inherit Metab Dis 35:469-77. 2012
    ....
  9. doi request reprint Rare allelic variants determine folate status in an unsupplemented European population
    Marketa Pavlikova
    Department of Medical Informatics, Institute of Computer Science of the Academy of Sciences of the Czech Republic, Prague, Czech Republic
    J Nutr 142:1403-9. 2012
    ..665C > T variant. This result indicates that the rare genetic variants may determine folate status to a similar extent as the common allelic variant...
  10. pmc Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency
    Jakub Krijt
    Institute of Inherited Metabolic Disorders 1st Faculty of Medicine, Charles University in Prague, Praha, Czech Republic
    J Inherit Metab Dis 34:49-55. 2011
    ..CBS assay in human plasma brings new possibilities in the diagnosis of pyridoxine nonresponsive CBS deficiency...
  11. pmc Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion
    Petr Vyletal
    Center for Applied Genomics, Institute of Inherited Metabolic Disorders, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 28:255-64. 2007
    ..833C; -] chromosomes may have originated by recurrent gene conversion employing the common nonpathogenic c.[833C; 844_845ins68] chromosomes as templates...
  12. ncbi request reprint cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression
    Petra Zavadakova
    Institute of Inherited Metabolic Diseases, 1st Faculty of Medicine, Charles University, Prague, Czech Republic
    Hum Mutat 25:239-47. 2005
    ..The identification of mutations in the MTRR gene, together with restoration of methionine synthesis following MTRR minigene expression in cblE cells confirms that this disease is caused by defects in the MTRR gene...
  13. pmc Vascular presentation of cystathionine beta-synthase deficiency in adulthood
    Martin Magner
    Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University in Prague, Praha, Czech Republic
    J Inherit Metab Dis 34:33-7. 2011
    ..833T>C (p.I278T) is often present...
  14. pmc The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
    Katerina Homolova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague 2, Czech Republic
    Hum Mutat 31:437-44. 2010
    ..We suggest that this mechanism may cause genetic disease much more frequently than previously reported...
  15. pmc Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling
    Ales Hnizda
    Institute of Inherited Metabolic Disorders, First Medical Faculty, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 2, 128 00 Czech Republic
    Biochemistry 49:10526-34. 2010
    ..Subtle differences at CBS surface indicate that enzyme activity is not regulated by conformational conversions but more likely by different allosteric mechanisms...
  16. doi request reprint Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis
    Roman Vozdek
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, Prague 2, 128 08, Czech Republic
    Biochim Biophys Acta 1834:2691-701. 2013
    ..All these data indicate that C. elegans OAS-TL paralogs have distinct cellular functions and may play different roles in maintaining hydrogen sulfide homeostasis. ..
  17. pmc Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats
    Michal Pravenec
    Institute of Physiology, Academy of Sciences of the Czech Republic, Prague, Czech Republic
    Am J Hypertens 26:135-40. 2013
    ..In the current study, we analyzed the role of folate deficiency in pathogenesis of the metabolic syndrome in the spontaneously hypertensive rat (SHR)...
  18. ncbi request reprint Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria
    Marek Orendáè
    Institute of Inherited Metabolic Diseases, Charles University First Faculty of Medicine, Prague, Czech Republic
    Hum Mutat 23:631. 2004
    ..442G>A) and two novel mutations (c.429C>G and c.1039+1G>T). The pathogenicity of the novel mutations was demonstrated by expression in E.coli. This is the first published communication on mutations leading to CBS deficiency in Poland...
  19. ncbi request reprint Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?
    Bohumila Janosíková
    Institute of Inherited Metabolic Disorders, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
    Eur J Hum Genet 13:86-95. 2005
    ....
  20. pmc Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1
    Roman Vozdek
    Institute of Inherited Metabolic Disorders, Charles University in Prague, First Faculty of Medicine and General University Hospital, Praha, Czech Republic
    Biochem J 443:535-47. 2012
    ..The present study provides the first insight into the metabolism of sulfur amino acids and hydrogen sulfide in C. elegans and shows that nematode CBSs possess a structural feature that is unique among CBS proteins...
  21. ncbi request reprint Effect of folic acid on fenofibrate-induced elevation of homocysteine and cysteine
    Vojtech Melenovsky
    Third Department of Internal Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic
    Am Heart J 146:110. 2003
    ..The aim of this study was to determine whether therapy with folic acid, a potent tHcy-lowering agent, could modify the fenofibrate-induced elevation of plasma aminothiols...
  22. ncbi request reprint Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease
    Bohumila Janosíková
    Institute of Inherited Metabolic Diseases, Charles University 1st Faculty of Medicine, Prague, Czech Republic
    Mol Genet Metab 79:167-75. 2003
    ..In conclusion, the coincidence of clinical and biochemical effects of a common c.844ins68 CBS variant supports the hypothesis that compounds relating to homocysteine metabolism may play role in the development and/or progression of CAD...
  23. pmc The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
    Helena Poupetova
    Institute of Inherited Metabolic Disorders, First Faculty of Medicine, Charles University in Prague and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic
    J Inherit Metab Dis 33:387-96. 2010
    ..Earlier diagnosis of these disorders will permit timely intervention and may also result in lowering of the number of newborns with LSDs...
  24. ncbi request reprint Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins
    Regina Kahleová
    Institute of Inherited Metabolic Disease, Charles University, 1st Faculty of Medicine, Prague, Czech Republic
    Am J Hypertens 15:857-64. 2002
    ..We examined whether insulin resistance and disturbed homocysteine metabolism are present in young adults at the early stages of essential hypertension...
  25. pmc Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues
    Jakub Krijt
    Institute of Inherited Metabolic Disorders, Charles University in Prague 1st Faculty of Medicine, Prague, Czech Republic
    J Chromatogr B Analyt Technol Biomed Life Sci 877:2061-6. 2009
    ..Storage of liver tissues at -80 degrees C for 2 months resulted in decrease of SAM/SAH ratio by 40%. These results demonstrate that preanalytical steps are critical for obtaining valid data of SAM and SAH in tissues...