J. Sokolova

发表

Cysteine restriction‐specific effects of sulfur amino acid restriction on lipid metabolism

V. Malloy, A. Shoveller, H. Refsum, 2022, bioRxiv.

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.

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.

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.

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

W. Ansorge, Č. Vlček, D. Patterson, 1998, Genomics.

Diversity of Cystathionine β-Synthase Haplotypes Bearing the Most Common Homocystinuria Mutation c.833T>C: A Possible Role for Gene Conversion

D. Cooper, M. Krawczak, H. Blom, 2006, 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.

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.

Thioethers as markers of hydrogen sulfide production in homocystinurias.

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

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

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

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

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

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

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

Insights into Severe 5,10‐Methylenetetrahydrofolate Reductase Deficiency: Molecular Genetic and Enzymatic Characterization of 76 Patients

M. Baumgartner, T. Suormala, D. S. Froese, 2015, Human mutation.

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.

The cystathionine β‐synthase (CBS) mutation c.1224‐2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype

T. Klockgether, J. Kraus, E. Pronicka, 2004 .

Comparison of the 5’ end of the rat and mouse cystathionine β-synthase genes

J. Kraus, M. Hřebíček, M. Roper, 1996, Mammalian Genome.

Cystathionine beta‐synthase deficiency in Central Europe: Discrepancy between biochemical and molecular genetic screening for homocystinuric alleles

J. Terwilliger, J. Kraus, V. Kožich, 2001, Human mutation.

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

D. Elleder, J. Kraus, M. Orendác, 1997, Journal of Inherited Metabolic Disease.

High frequency of SLC22A12 variants causing renal hypouricemia 1 in the Czech and Slovak Roma population; simple and rapid detection method by allele-specific polymerase chain reaction

J. Bernasovská, D. Gabriková, B. Stibůrková, 2015, Urolithiasis.

Metabolic Syndrome, Alcohol Consumption and Genetic Factors Are Associated with Serum Uric Acid Concentration

V. Kožich, M. Pavlíková, B. Stibůrková, 2014, PloS one.

Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria

E. Pronicka, V. Kožich, M. Linnebank, 2004, Human mutation.

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

J. Kraus, V. Kožich, M Janosík, 2001, American journal of human genetics.

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

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

Rare allelic variants determine folate status in an unsupplemented European population.

J. Zvárová, V. Kožich, M. Pavlíková, 2012, The Journal of nutrition.

Elevated homocysteine levels: What inborn errors of metabolism might we be missing?

M. Gambello, V. Kožich, Aixa Gonzalez, 2022, American journal of medical genetics. Part A.

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 .

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

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

Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders

M. Elleder, M. Hřebíček, J. Sokolova, 1997, Acta Neuropathologica.

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.

Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function

T. Ida, T. Majtan, O. Vit, 2024, Redox Biology.

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.

Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression

K. Retterstøl, A. Elshorbagy, Hannibal Troensegaard, 2024, Redox biology.

High cysteine diet reduces insulin resistance in SHR-CRP Rats.

M. Pravenec, P. Mlejnek, H. Malínská, 2021, Physiological research.