Tomas Majtan

Switzerland

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Articles (10)

Year:

2024

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2024

Year:

2024

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2023

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2023

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2022

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2022

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2021

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2020

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2020

Collaborators (7)

Jitka Sokolová

Všeobecná Fakultní Nemocnice v Praze

CZECH REPUBLIC

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Thomas Olsen

NORWAY

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Tomoaki Ida

Osaka University

JAPAN

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Csaba Szabo

University of Texas Medical Branch

UNITED STATES

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Viktor Kožich

Professor of Medical Genetics

Charles University

CZECH REPUBLIC

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Gregor Rainer

Full Professor

University of Fribourg

SWITZERLAND

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Jiri Petrak

Charles University

CZECH REPUBLIC

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Tomas Majtan

Research Interests

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Articles (10)

Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?

Cellular turnover and degradation of the most common missense cystathionine beta‐synthase variants causing homocystinuria

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

Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria

Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants

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.

H2S biogenesis by cystathionine beta-synthase: mechanism of inhibition by aminooxyacetic acid and unexpected role of serine

Inherited disorders of sulfur amino acid metabolism: recent advances in therapy

Interplay of Enzyme Therapy and Dietary Management of Murine Homocystinuria

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

Collaborators (7)

Jitka Sokolová

Thomas Olsen

Tomoaki Ida

Csaba Szabo

Viktor Kožich

Gregor Rainer

Jiri Petrak

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