List of works - Jakub Krijt

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

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment

scientific article published on 01 June 2000

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

Adenosine and methotrexate polyglutamate concentrations in patients with juvenile arthritis.

scientific article published on 28 September 2004

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

scientific article published on 01 July 1997

Adenylosuccinate lyase deficiency in a Czech girl and two siblings

article

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

scientific article published in April 2010

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

CBS update: Structure, CBS replacement therapy, and H2S production

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

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

scientific article published on 21 October 2014

Clinical and biochemical heterogeneity in 5 patients with adenylosuccinase deficiency ⬇️

scholarly article

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

scientific article

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

scientific article published on 3 June 2008

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

article

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

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 p.S466L mutation causes hyperhomocysteinemia in mice

scientific article published on August 2008

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

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect

scientific article published on 12 July 2008

Decreased hemojuvelin protein levels in mask mice lacking matriptase-2-dependent proteolytic activity

scientific article published on 16 April 2013

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

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

scientific article

Dissecting the role of Folr1 and Folh1 genes in the pathogenesis of metabolic syndrome in spontaneously hypertensive rats

scientific article published on 01 August 2018

Effect of diphenyl ether herbicides and oxadiazon on porphyrin biosynthesis in mouse liver, rat primary hepatocyte culture and HepG2 cells.

scientific article

Effect of folic acid on fenofibrate-induced elevation of homocysteine and cysteine.

scientific article

Effect of lipopolysaccharide and bleeding on the expression of intestinal proteins involved in iron and haem transport

scientific article published on 01 January 2006

Effect of the protoporphyrinogen oxidase-inhibiting herbicide fomesafen on liver uroporphyrin and heptacarboxylic porphyrin in two mouse strains

scientific article published on 01 July 1994

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

Familial Juvenile Hyperuricaemic Nephropathy in Adolescents ⬇️

scientific article published on 01 January 1994

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

scientific article published on January 2013

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

Hepcidin downregulation by repeated bleeding is not mediated by soluble hemojuvelin

scientific article published on 27 February 2009

Hepcidin expression in the liver of mice with implanted tumour reacts to iron deficiency, inflammation and erythropoietin administration.

scientific article published in January 2011

Herbicide oxadiazon induces peroxisome proliferation ⬇️

scientific article published on 01 September 1997

Herbicide-induced experimental variegate porphyria in mice: tissue porphyrinogen accumulation and response to porphyrogenic drugs

scientific article published on October 1997

Hereditary xanthinuria is not so rare disorder of purine metabolism

scientific article published on 03 May 2018

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

scientific article published in June 2000

Identification and determination of succinyladenosine in human cerebrospinal fluid

scientific article published on 01 April 1999

Iron Overload Causes Alterations of E-Cadherin in the Liver

scientific article published in January 2016

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

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

scientific article published on January 2007

Liver high performance liquid chromatographic porphyrin profiles in experimental porphyria induced by peroxidizing herbicides ⬇️

scientific article published on September 1, 1991

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

scientific article published on 05 July 2020

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

scientific article published on January 2004

Metabolism of sulfur compounds in homocystinurias

scientific article published on 25 November 2018

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

scientific article published in January 2006

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

scientific article published on January 2012

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

scientific article published on 22 September 2011

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

scientific article published in April 2012

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

scientific article published on 25 June 2010

Plasma cysteine concentrations in uncomplicated pregnancies

scientific article published on 16 March 2007

Preface

Preface to a supplement to Pharmacy World on the 5TH Symposium of the European Society for the Study of Purine & Pyrimidtne Metabolism in Man (ESSPPMM 1995)

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency

scientific article published in January 2005

Primary hepatocytes from mice lacking cysteine dioxygenase show increased cysteine concentrations and higher rates of metabolism of cysteine to hydrogen sulfide and thiosulfate

scientific article published on 08 March 2014

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

scientific article published on 20 May 2010

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

scientific article published on 23 October 2014

Secretory response to light in rat Harderian gland: possible photoprotective role of Harderian porphyrin

scientific article published on 01 August 1987

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

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

scientific article published on 01 January 1994

The cysteine dioxgenase knockout mouse: altered cysteine metabolism in nonhepatic tissues leads to excess H2S/HS(-) production and evidence of pancreatic and lung toxicity

scientific article published on 19 March 2013

The effect of nitric oxide on vaccinia virus-encoded ribonucleotide reductase.

scientific article published on 5 October 2008

The effect of protoporphyrinogen oxidase inhibitors on microsomal and mitochondrial cytochromes

scientific article published on December 1995

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

scientific article published on 30 October 2013

Thioethers as markers of hydrogen sulfide production in homocystinurias.

scientific article published on 11 January 2016

Urinary Pterins in Lesch-Nyhan Syndrome ⬇️

scientific article published on 01 January 1991

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

scientific article published on 6 April 2018

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient

scientific article published on 14 January 2010

List of works by Jakub Krijt

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.

Abnormalities in succinylpurines in fumarase deficiency: possible role in pathogenesis of CNS impairment

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

Adenosine and methotrexate polyglutamate concentrations in patients with juvenile arthritis.

Adenylosuccinase deficiency: clinical and biochemical findings in 5 Czech patients

Adenylosuccinate lyase deficiency in a Czech girl and two siblings

Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency

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

CBS update: Structure, CBS replacement therapy, and H2S production

Changes in hydrogen sulfide production in cystathionine beta-synthase deficiency

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

Clinical and biochemical heterogeneity in 5 patients with adenylosuccinase deficiency ⬇️

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

Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency

Combined Adenine Phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate Sulfatase Deficiency

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

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 p.S466L mutation causes hyperhomocysteinemia in mice

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

D-ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: absence of positive effect

Decreased hemojuvelin protein levels in mask mice lacking matriptase-2-dependent proteolytic activity

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

Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency

Dissecting the role of Folr1 and Folh1 genes in the pathogenesis of metabolic syndrome in spontaneously hypertensive rats

Effect of diphenyl ether herbicides and oxadiazon on porphyrin biosynthesis in mouse liver, rat primary hepatocyte culture and HepG2 cells.

Effect of folic acid on fenofibrate-induced elevation of homocysteine and cysteine.

Effect of lipopolysaccharide and bleeding on the expression of intestinal proteins involved in iron and haem transport

Effect of the protoporphyrinogen oxidase-inhibiting herbicide fomesafen on liver uroporphyrin and heptacarboxylic porphyrin in two mouse strains

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.

Familial Juvenile Hyperuricaemic Nephropathy in Adolescents ⬇️

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

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

Hepcidin downregulation by repeated bleeding is not mediated by soluble hemojuvelin

Hepcidin expression in the liver of mice with implanted tumour reacts to iron deficiency, inflammation and erythropoietin administration.

Herbicide oxadiazon induces peroxisome proliferation ⬇️

Herbicide-induced experimental variegate porphyria in mice: tissue porphyrinogen accumulation and response to porphyrogenic drugs

Hereditary xanthinuria is not so rare disorder of purine metabolism

Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients

Identification and determination of succinyladenosine in human cerebrospinal fluid

Iron Overload Causes Alterations of E-Cadherin in the Liver

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

Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families

Liver high performance liquid chromatographic porphyrin profiles in experimental porphyria induced by peroxidizing herbicides ⬇️

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

Maternal hyperphenylalaninemias in healthy Czech population of pregnant women: 30 years experience with screening, prevention and treatment.

Metabolism of sulfur compounds in homocystinurias

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

Novel mutations in the tyrosine hydroxylase gene in the first Czech patient with tyrosine hydroxylase deficiency

Novel mutations in xanthine dehydrogenase/oxidase cause severe hypouricemia: biochemical and molecular genetic analysis in two Czech families with xanthinuria type I.

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

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

Plasma cysteine concentrations in uncomplicated pregnancies

Preface

Preparation of 5-amino-4-imidazole-N-succinocarboxamide ribotide, 5-amino-4-imidazole-N-succinocarboxamide riboside and succinyladenosine, compounds usable in diagnosis and research of adenylosuccinate lyase deficiency

Primary hepatocytes from mice lacking cysteine dioxygenase show increased cysteine concentrations and higher rates of metabolism of cysteine to hydrogen sulfide and thiosulfate

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

Screening for adenylosuccinate lyase deficiency using tandem mass spectrometry analysis of succinylpurines in neonatal dried blood spots.

Secretory response to light in rat Harderian gland: possible photoprotective role of Harderian porphyrin

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

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

The cysteine dioxgenase knockout mouse: altered cysteine metabolism in nonhepatic tissues leads to excess H2S/HS(-) production and evidence of pancreatic and lung toxicity

The effect of nitric oxide on vaccinia virus-encoded ribonucleotide reductase.

The effect of protoporphyrinogen oxidase inhibitors on microsomal and mitochondrial cytochromes

The need for vigilance: false-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers.

Thioethers as markers of hydrogen sulfide production in homocystinurias.

Urinary Pterins in Lesch-Nyhan Syndrome ⬇️

Variable X-chromosome inactivation and enlargement of pericentral glutamine synthetase zones in the liver of heterozygous females with OTC deficiency.

Xanthine dehydrogenase deficiency with novel sequence variations presenting as rheumatoid arthritis in a 78-year-old patient