J. Krijt

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

J. Zeman, S. Kmoch, J. Houštěk, 2000, Journal of Inherited Metabolic Disease.

Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.

C. Grimm, M. Samardzija, M. Baumgartner, 2021, Biochimica et biophysica acta. Molecular basis of disease.

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

T. Kurtz, V. Zídek, M. Pravenec, 2016, Hypertension.

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

J. Kopecká, V. Kožich, J. Krijt, 2010, Journal of Inherited Metabolic Disease.

Measurement of homocysteine and other aminothiols in plasma: advantages of using tris(2-carboxyethyl)phosphine as reductant compared with tri-n-butylphosphine.

V. Kožich, J. Krijt, M. Vačková, 2001, Clinical chemistry.

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

T. Kurtz, V. Zídek, M. Pravenec, 2013, American journal of hypertension.

Metabolism of sulfur compounds in homocystinurias

V. Kožich, P. Nagy, T. Ditrói, 2018, British journal of pharmacology.

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

S. Kmoch, V. Barešová, M. Krijt, 2015, Clinical biochemistry.

Birth Prevalence of Homocystinuria in Central Europe: Frequency and Pathogenicity of Mutation c.1105C>T (p.R369C) in the Cystathionine Beta-Synthase Gene

V. Kožich, M. Janošík, J. Krijt, 2009, The Journal of pediatrics.

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

K. Hanaoka, T. Nagano, M. Stipanuk, 2014, Amino Acids.

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

Erez M. Bublil, T. Majtan, V. Kožich, 2020, Human mutation.

Thiopurine‐induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II)

J. Krijt, B. Stibůrková, K. Pavelcová, 2018, Toxicology and applied pharmacology.

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

J. Hradec, V. Melenovský, R. Češka, 2003, American heart journal.

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

J. Kopecká, B. Wilcken, V. Kožich, 2015, Journal of Inherited Metabolic Disease.

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

J. Bártl, J. Krijt, B. Stibůrková, 2012, Clinica chimica acta; international journal of clinical chemistry.

Screening tests for adenylosuccinase deficiency

H. Simmonds, J. Krijt, I. Šebesta, 1995 .

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

Z. Melkova, M. Vokurka, J. Krijt, 2009, Nitric oxide : biology and chemistry.

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

A. Klimovskaia, J. Leff, H. M. Grisch-Chan, 2019, Journal of inherited metabolic disease.

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

D. Elleder, J. Plachy, D. Kučerová, 2021, Viruses.

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

S. Kmoch, A. Hnízda, J. Krijt, 2010, Human mutation.

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

J. Zeman, T. Honzík, M. Mistrik, 2017, Clinical chemistry and laboratory medicine.

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

S. Kmoch, A. Tylki-Szymańska, E. Pronicka, 2008, Molecular genetics and metabolism.

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

J. Zvárová, V. Kožich, M. Andel, 2003, Molecular genetics and metabolism.

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

M. Baumgartner, H. Blom, S. Kölker, 2020, Journal of inherited metabolic disease.

Hereditary xanthinuria is not so rare disorder of purine metabolism

J. Krijt, B. Stibůrková, I. Šebesta, 2018, Nucleosides, nucleotides & nucleic acids.

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

K. Hanaoka, T. Nagano, M. Stipanuk, 2014, Amino Acids.

Thioethers as markers of hydrogen sulfide production in homocystinurias.

T. Majtan, J. Kraus, V. Kožich, 2016, Biochimie.

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

B. Merinero, M. Ugarte, V. Kožich, 2015, Clinica chimica acta; international journal of clinical chemistry.

Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis

P. Clayton, G. Schwarz, D. Martinelli, 2022, Redox biology.

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

V. Kožich, J. Krijt, Alena Dutá, 2009, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.

Erez M. Bublil, Wendell Jones, S. Bassnett, 2017, Molecular therapy : the journal of the American Society of Gene Therapy.

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

Erez M. Bublil, T. Majtan, J. Kraus, 2017, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

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

M. Stipanuk, V. Kožich, A. Valli, 2013, Antioxidants & redox signaling.

Cystathionine β-Synthase p.S466L Mutation Causes Hyperhomocysteinemia in Mice

X. Hua, W. Kruger, V. Kožich, 2008, Human mutation.

Biogenesis of Hydrogen Sulfide and Thioethers by Cystathionine Beta-Synthase.

J. Gregory, T. Majtan, J. Kraus, 2018, Antioxidants & redox signaling.

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

Erez M. Bublil, T. Majtan, J. Kraus, 2016, The Journal of clinical investigation.

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

L. Kluijtmans, J. Kopecká, V. Kožich, 2011, Journal of Inherited Metabolic Disease.

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

L. Meltesen, R. Rozen, G. Brodsky, 2010, Molecular genetics and metabolism.

Cystathionine b-Synthase Mutations : Effect of Mutation Topology on Folding and Activity

D. Cooper, J. Kraus, V. Kožich, 2010 .

The allopurinol loading test in detecting obligate heterozygotes for OCT deficiency

H. Simmonds, L. Fairbanks, J. Krijt, 1994, Journal of Inherited Metabolic Disease.

Identification and determination of succinyladenosine in human cerebrospinal fluid.

V. Havlíček, H. Hartmannová, S. Kmoch, 1999, Journal of chromatography. B, Biomedical sciences and applications.

Mutation analysis of the GALT gene in Czech and Slovak galactosemia populations: Identification of six novel mutations, including a stop codon mutation (X380R)

L. Kozák, L. Fajkusová, H. Francová, 2000, Human mutation.

Presence of a deletion in the 5′ upstream region of the GALT gene in Duarte (D2) alleles

L. Kozák, H. Francová, J. Macků, 1999, Journal of medical genetics.

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

V. Kožich, Roman Vozdek, A. Hnízda, 2012, The Biochemical journal.

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

J. Zeman, M. Jirsa, T. Honzík, 2018, Virchows Archiv.

Combined adenine phosphoribosyltransferase and N-acetylgalactosamine-6-sulfate sulfatase deficiency.

H. Simmonds, J. Tischfield, J. Zeman, 1999, Molecular genetics and metabolism.

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

J. Kraus, M. Elleder, Hua Jiang, 2010, Molecular genetics and metabolism.

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.

V. Kožich, P. Chrastina, J. Bártl, 2014, Clinica chimica acta; international journal of clinical chemistry.

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

H. Hartmannová, S. Kmoch, J. Krijt, 2005, Journal of Inherited Metabolic Disease.

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.

H. Hartmannová, S. Kmoch, S Kmoch, 2000, Human molecular genetics.

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

R. Rossi, J. Zeman, S. Kmoch, 2007, The Journal of pediatrics.

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

S. Kmoch, V. Adámková, A. Jurecka, 2013, Clinical biochemistry.

Oligodendroglia from ADSL-deficient patient produce SAICAribotide and SAMP.

J. Zeman, S. Kmoch, D. Friedecký, 2010, Molecular genetics and metabolism.

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

M. Tesařová, J. Zeman, T. Honzík, 2012, Prague medical report.

d-Ribose therapy in four Polish patients with adenylosuccinate lyase deficiency: Absence of positive effect

S. Kmoch, A. Tylki-Szymańska, A. Jurecka, 2008, Journal of Inherited Metabolic Disease.

Plasma Cysteine Concentrations in Uncomplicated Pregnancies

P. Calda, J. Krijt, J. Visek, 2007, Fetal Diagnosis and Therapy.

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

J. Zeman, M. Elleder, T. Honzík, 2012, Molecular genetics and metabolism.

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

V. Zídek, M. Pravenec, P. Mlejnek, 2018, Physiological research.

Dissecting the Role of Folr 1 and Folh 1 Genes in the Pathogenesis of Metabolic Syndrome in Spontaneously Hypertensive Rats

V. Zídek, M. Pravenec, P. Mlejnek, 2018 .

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

V. Kožich, Roman Vozdek, A. Hnízda, 2013, Biochimica et biophysica acta.

A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.

T. Kalina, J. Stuchly, V. Kanderova, 2020, Blood.

Urinary pterins in Lesch-Nyhan syndrome.

S. Kmoch, J. Krijt, I. Šebesta, 1991, Advances in Experimental Medicine and Biology.

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

A. Tylki-Szymańska, A. Jurecka, J. Krijt, 2010, Journal of Inherited Metabolic Disease.