Lista de obras - Viktor Kožich - Dominio Público Uruguay

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.

artículo científico publicado en 2010

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

artículo científico publicado en 2017

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

artículo científico publicado el 1 de julio de 1997

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

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado en 2013

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase

artículo científico publicado en 2017

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

artículo científico publicado en 2008

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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

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

artículo científico publicado en 2014

Chemical chaperone rescue of mutant human cystathionine beta-synthase

artículo científico publicado en 2007

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.

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2011

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

artículo científico publicado en 2019

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

artículo científico publicado en 2019

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

artículo científico publicado en 2012

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

artículo científico publicado en 2010

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

artículo científico publicado en 2001

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

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

artículo científico publicado en 2010

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

artículo científico publicado el 9 de noviembre de 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 ⬇️

artículo científico publicado el 5 de mayo de 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2009

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

artículo científico publicado en 2013

Di- and trihydroxycholestanaemia in twin sisters

artículo científico publicado en 1991

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

artículo científico publicado en 2007

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

artículo científico publicado en 2014

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria

artículo científico publicado en 2017

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

artículo científico publicado en 2017

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

artículo científico publicado en 2016

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

artículo científico publicado en 2019

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

artículo científico publicado en 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

artículo científico publicado en 1991

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

artículo científico publicado en 2013

Folate supplementation prevents plasma homocysteine increase after fenofibrate therapy.

artículo científico publicado en 2001

Foreword to special issue on homocysteine disorders

artículo científico publicado en 2011

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

artículo científico publicado en 1999

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

artículo científico publicado en 2015

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

artículo científico publicado en 2003

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

artículo científico publicado en 2016

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

artículo científico publicado en 2016

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

artículo científico publicado en 2003

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

artículo científico publicado en 1995

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

artículo científico publicado en 1999

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

artículo científico publicado en 2015

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

artículo científico publicado en 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

artículo científico publicado en 2021

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

artículo científico publicado en 2020

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

artículo científico publicado en 2014

Metabolism of sulfur compounds in homocystinurias

artículo científico publicado en 2018

Mevalonic aciduria

artículo científico publicado en 1991

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

artículo científico publicado en 1993

Molecular defect in a patient with pyridoxine-responsive homocystinuria

artículo científico publicado en 1993

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

artículo científico publicado en 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

artículo científico publicado en 2023

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

artículo científico publicado en 2015

Newborn screening for homocystinurias: recent recommendations versus current practice

artículo científico publicado en 2019

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

artículo científico publicado en 2011

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

artículo científico publicado en 2012

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

artículo científico publicado en 2019

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

artículo científico publicado en 2018

Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria

artículo científico publicado en 2017

Pyridoxine responsive and unresponsive homocystinuria

artículo científico publicado el 1 de enero de 1992

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

artículo científico publicado en 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).

artículo científico publicado en 2013

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

artículo científico publicado en 2020

Reply to Sajantila and Budowle

artículo científico publicado en 2015

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

artículo científico publicado en 2007

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

artículo científico publicado el 1 de enero de 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

artículo científico publicado en 2014

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

artículo científico publicado en 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.

artículo científico

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

artículo científico publicado en 2004

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

artículo científico publicado en 1998

Thioethers as markers of hydrogen sulfide production in homocystinurias.

artículo científico publicado en 2016

Unusual clinical presentation in two boys with cytochrome c oxidase deficiency

artículo científico publicado en 1992

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

artículo científico publicado en 1998

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

artículo científico publicado en 2010

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

artículo científico publicado en 2005

Lista de obras de 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?