List of works - Viktor Kožich

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.

scientific article published on 23 June 2010

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

scientific article published on 01 July 2017

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199 ⬇️

scientific article published on July 1, 1997

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

scientific article published in December 2010

Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy

scientific article published in June 2001

Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis.

scientific article published on 4 October 2013

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

scientific article published on 6 September 2017

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

scientific article published on 31 October 2008

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

scientific article

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

scientific article published in January 2003

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

scientific article published on 21 October 2014

Chemical chaperone rescue of mutant human cystathionine beta-synthase

scientific article

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

scientific article published on 20 December 2014

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

scientific article

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

scientific article published in March 2011

Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method

scientific article published on 07 April 2019

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

scientific article published on 13 March 2019

Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

scientific article published on 27 June 2012

Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling

scientific article published on 17 November 2010

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

scientific article published in December 2001

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

scientific article

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

scientific article published on July 2010

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

scientific article

Cystathionine beta‐synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts ⬇️

scientific article published on November 9, 2011

Cystathionine β-synthase deficiency in the E-HOD registry-Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

scientific article published on 09 December 2020

Cysteine and Obesity ⬇️

scientific article published on 05 May 2011

Cysteine and obesity: consistency of the evidence across epidemiologic, animal and cellular studies

scientific article published on January 2012

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues.

scientific article published on 28 May 2009

Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination

scientific article published on 29 August 2013

Di- and trihydroxycholestanaemia in twin sisters

scientific article published in January 1991

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

scientific article published on March 2007

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

scientific article published on 16 September 2014

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria

scientific article published on 19 December 2017

Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

scientific article published on 16 August 2017

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

scientific article

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

scientific article published on 01 June 2019

Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins.

scientific article published in October 2002

Factors Influencing Parental Awareness about Newborn Screening

scientific article published on 18 September 2019

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

scientific article (publication date: 15 May 1991)

Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats

scientific article published on January 2013

Folate supplementation prevents plasma homocysteine increase after fenofibrate therapy.

scientific article published in September 2001

Foreword to special issue on homocysteine disorders

scientific article published on February 2011

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype

scientific article published on 01 January 1999

Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome

scientific article published on 14 December 2015

Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease

scientific article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

scientific article

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

scientific article published on 24 October 2016

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

scientific article

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

scientific article published on April 1995

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

scientific article

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

scientific article

Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?

scientific article published on 01 June 1999

Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid

scientific article published in 2021

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

scientific article published on 05 July 2020

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration

scientific article

Metabolism of sulfur compounds in homocystinurias

scientific article published on 25 November 2018

Mevalonic aciduria

scientific article published in January 1991

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

scientific article

Molecular defect in a patient with pyridoxine-responsive homocystinuria

scientific article

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

scientific article published on 13 February 2016

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

scientific article published on 22 August 2018

Newborn Screening in a Pandemic—Lessons Learned

scientific article published in 2023

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

scientific article

Newborn screening for homocystinurias: recent recommendations versus current practice

scientific article published on 01 January 2019

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans

scientific article published on 10 May 2011

Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1.

scientific article published in April 2012

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

scientific article published on 17 February 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

scientific article published on 3 September 2018

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

scientific article published on 10 November 2017

Pyridoxine responsive and unresponsive homocystinuria

scientific article published on 01 January 1992

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

scientific article published on 21 November 2008

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

scientific article published on 13 June 2012

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

scientific article published on 14 August 2013

Regulatory landscape of providing information on newborn screening to parents across Europe

scientific article published on 10 October 2020

Reply to Sajantila and Budowle

scientific article published on 14 January 2015

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

scientific article

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

scientific article published on January 1, 1992

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

scientific article published on 31 July 2014

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?

scientific article published in January 2005

Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.

scientific article published on 15 April 2015

The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis.

scientific article published on 2 August 2004

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms

scientific article published in September 1998

Thioethers as markers of hydrogen sulfide production in homocystinurias.

scientific article published on 11 January 2016

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency

scientific article published in January 1992

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria).

scientific article

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

scientific article

cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.

scientific article published on March 2005

List of works by Viktor Kožich

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.

Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency

Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: Report on three novel mutations E176K, W409X and 1223 + 37 de199 ⬇️

Ancient origin of the CTH alelle carrying the c.200C>T (p.T67I) variant in patients with cystathioninuria

Association of the Glu298Asp polymorphism in the endothelial nitric oxide synthase gene with essential hypertension resistant to conventional therapy

Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis.

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase gene

CDH13 promoter SNPs with pleiotropic effect on cardiometabolic parameters represent methylation QTLs

CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene

Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

Chemical chaperone rescue of mutant human cystathionine beta-synthase

Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data.

Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.

Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project

Comprehensive analysis of how experimental parameters affect H2S measurements by the monobromobimane method

Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification

Correction to Conformational Properties of Nine Purified Cystathionine β-Synthase Mutants

Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling

Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

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

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

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

Cystathionine beta‐synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts ⬇️

Cystathionine β-synthase deficiency in the E-HOD registry-Part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis

Cysteine and Obesity ⬇️

Cysteine and obesity: consistency of the evidence across epidemiologic, animal and cellular studies

Determination of S-Adenosylmethionine and S-Adenosylhomocysteine by LC-MS/MS and evaluation of their stability in mice tissues.

Developmental programming of growth: genetic variant in GH2 gene encoding placental growth hormone contributes to adult height determination

Di- and trihydroxycholestanaemia in twin sisters

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

Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria

Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria

Enzyme replacement with PEGylated cystathionine β-synthase ameliorates homocystinuria in murine model.

Epidemiology of rare diseases detected by newborn screening in the Czech Republic

Essential hypertension in adolescents: association with insulin resistance and with metabolism of homocysteine and vitamins.

Factors Influencing Parental Awareness about Newborn Screening

Facts and artefacts in mevalonic aciduria: development of a stable isotope dilution GCMS assay for mevalonic acid and its application to physiological fluids, tissue samples, prenatal diagnosis and carrier detection

Folate deficiency is associated with oxidative stress, increased blood pressure, and insulin resistance in spontaneously hypertensive rats

Folate supplementation prevents plasma homocysteine increase after fenofibrate therapy.

Foreword to special issue on homocysteine disorders

Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype

Genetic Variation in Renal Expression of Folate Receptor 1 (Folr1) Gene Predisposes Spontaneously Hypertensive Rats to Metabolic Syndrome

Genetic variants of homocysteine metabolizing enzymes and the risk of coronary artery disease

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Homocystinuria due to cystathionine beta-synthase deficiency: novel biochemical findings and treatment efficacy

Hyperhomocysteinemia in premature arterial disease: examination of cystathionine beta-synthase alleles at the molecular level.

Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry.

Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients

Is the common 844ins68 polymorphism in the cystathionine beta-synthase gene associated with atherosclerosis?

Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid

Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria

Metabolic syndrome, alcohol consumption and genetic factors are associated with serum uric acid concentration

Metabolism of sulfur compounds in homocystinurias

Mevalonic aciduria

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

Molecular defect in a patient with pyridoxine-responsive homocystinuria

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Neonatal screening in the Czech Republic: increased prevalence of selected diseases in low birthweight neonates

Newborn Screening in a Pandemic—Lessons Learned

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines

Newborn screening for homocystinurias: recent recommendations versus current practice

Novel polymorphic AluYb8 insertion in the WNK1 gene is associated with blood pressure variation in Europeans

Novel structural arrangement of nematode cystathionine β-synthases: characterization of Caenorhabditis elegans CBS-1.

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

Pyridoxine responsive and unresponsive homocystinuria

Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM.

Rare Allelic Variants Determine Folate Status in an Unsupplemented European Population

Recommendations for reporting results of diagnostic genetic testing (biochemical, cytogenetic and molecular genetic).

Regulatory landscape of providing information on newborn screening to parents across Europe

Reply to Sajantila and Budowle

Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1.

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

Simultaneous determination of cystathionine, total homocysteine, and methionine in dried blood spots by liquid chromatography/tandem mass spectrometry and its utility for the management of patients with homocystinuria

Single-nucleotide polymorphisms in genes relating to homocysteine metabolism: how applicable are public SNP databases to a typical European population?