Tomáš Majtán

University of Fribourg — Switzerland

Medicine · Health Sciences

28h-index2.3kcitations92works4.62yr avg
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Research Topics

Folate and B Vitamins Research(61), Sulfur Compounds in Biology(30), Amino Acid Enzymes and Metabolism(29), Metabolism and Genetic Disorders(27), Porphyrin Metabolism and Disorders(18)

Publications91 total

Corrigendum to “Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria” [Biochem. Pharmacol. 239 (2025) 117079]
Biochemical Pharmacology·2026
Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria
International Journal of Biological Macromolecules·2025Open Access
Structural basis for a filamentous morpheein model of human cystathionine beta-synthase
2025Open Access
Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria
Biochemical Pharmacology·2025· 1 citedOpen Access
Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria
Molecular and Cellular Biology·2025· 2 citedOpen Access
Regulation of mammalian cellular metabolism by endogenous cyanide production
Nature Metabolism·2025· 22 citedOpen Access
Impact of primary sequence changes on the self‐association properties of mammalian cystathionine beta‐synthase enzymes
Protein Science·2024· 1 citedOpen Access
Mechanism of action and impact of thiol homeostasis on efficacy of an enzyme replacement therapy for classical homocystinuria
Redox Biology·2024· 5 citedOpen Access
Cellular turnover and degradation of the most common missense cystathionine beta‐synthase variants causing homocystinuria
Protein Science·2024· 8 citedOpen Access
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
Journal of Inherited Metabolic Disease·2024· 5 citedOpen Access
Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function
Redox Biology·2024· 9 citedOpen Access
Endogenously produced hydrogen cyanide serves as a novel mammalian gasotransmitter
2024· 1 citedOpen Access
Catalytic specificity and crystal structure of cystathionine γ-lyase from Pseudomonas aeruginosa
Scientific Reports·2024· 11 citedOpen Access
Catalytic specificity and crystal structure of cystathionine γ-lyase from Pseudomonas aeruginosa
Research Square (Research Square)·2024Open Access
Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants
Molecular and Cellular Biology·2023· 7 citedOpen Access
A QUANTITATIVE SYSTEMS PHARMACOLOGY (QSP) MODEL FOR CLASSICAL HOMOCYSTINURIA PREDICTING EFFICACY OF TREATMENT
Molecular Genetics and Metabolism·2023
Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria
British Journal of Pharmacology·2022· 28 citedOpen Access
Epigallocatechin gallate is a potent inhibitor of cystathionine beta-synthase: Structure-activity relationship and mechanism of action
Nitric Oxide·2022· 21 citedOpen Access
H2S biogenesis by cystathionine beta-synthase: mechanism of inhibition by aminooxyacetic acid and unexpected role of serine
Cellular and Molecular Life Sciences·2022· 45 citedOpen Access
Overproduction of hydrogen sulfide, generated by cystathionine β-synthase, disrupts brain wave patterns and contributes to neurobehavioral dysfunction in a rat model of down syndrome
Redox Biology·2022· 61 citedOpen Access
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Frequent Co-authors

Jan P. Kraus(31), Ángel L. Pey(8), Viktor Kožich(8), Erez M. Bublil(8), Luis Alfonso Martínez‐Cruz(7), Insun Park(7), Csaba Szabó(6), Juraj Majtán(6), Karim Zuhra(5), Jakub Krijt(5), June Ereño‐Orbea(4), V. Majtán(4), Judith N. Burstyn(4), Jozef Timko(4), Megan K. Thorson(3), Amy Barrios(3), Jaroslav Klaudiny(3), Iker Oyenarte(3), Warren D. Kruger(3), Frank E. Frerman(3)