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Autor
Barvíková, Kristýna 1 Blessing, Holger 1 Clayton, Peter 1 Dionisi-Vici, Carlo 1 Ditroi, Tamas 1 García-Cazorla, Ángeles 1 Gasperini, Serena 1 Haack, Tobias B 1 Honzík, Tomáš 1 Ješina, Pavel 1 Khalil, Youssef 1 Kožich, Viktor 1 Krijt, Jakub 1 Kuster, Alice 1 Křížek, Tomáš 1 Křížková, Michaela 1 Laugwitz, Lucia 1 Martinelli, Diego 1 Mills, Philippa 1 Nagy, Peter 1
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Pracoviště
Center for Inborn Errors of Metabolis... 1 Chemistry Institute University of Deb... 1 Department of Analytical Chemistry Fa... 1 Department of Anatomy and Histology E... 1 Department of Inborn Errors of Metabo... 1 Department of Molecular Immunology an... 1 Department of Neuropediatrics Develop... 1 Department of Pediatrics Metabolic di... 1 Department of Pediatrics University M... 1 Department of Pediatrics and Inherite... 1 Division of Metabolism Bambino Gesù C... 1 Genetics and Genomic Medicine Departm... 1 Inborn Errors of Metabolism Unit Inst... 1 Institute of Biochemistry Department ... 1 Institute of Medical Genetics and App... 1 Institute of Rheumatology Prague Czec... 1 Kinder und Jugendklinik Universitätsk... 1 Manchester Centre for Genomic Medicin... 1 Metabolic Rare Diseases Unit Departme... 1
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Autor
Barvíková, Kristýna 1 Blessing, Holger 1 Clayton, Peter 1 Dionisi-Vici, Carlo 1 Ditroi, Tamas 1 García-Cazorla, Ángeles 1 Gasperini, Serena 1 Haack, Tobias B 1 Honzík, Tomáš 1 Ješina, Pavel 1 Khalil, Youssef 1 Kožich, Viktor 1 Krijt, Jakub 1 Kuster, Alice 1 Křížek, Tomáš 1 Křížková, Michaela 1 Laugwitz, Lucia 1 Martinelli, Diego 1 Mills, Philippa 1 Nagy, Peter 1
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Pracoviště
Center for Inborn Errors of Metabolis... 1 Chemistry Institute University of Deb... 1 Department of Analytical Chemistry Fa... 1 Department of Anatomy and Histology E... 1 Department of Inborn Errors of Metabo... 1 Department of Molecular Immunology an... 1 Department of Neuropediatrics Develop... 1 Department of Pediatrics Metabolic di... 1 Department of Pediatrics University M... 1 Department of Pediatrics and Inherite... 1 Division of Metabolism Bambino Gesù C... 1 Genetics and Genomic Medicine Departm... 1 Inborn Errors of Metabolism Unit Inst... 1 Institute of Biochemistry Department ... 1 Institute of Medical Genetics and App... 1 Institute of Rheumatology Prague Czec... 1 Kinder und Jugendklinik Universitätsk... 1 Manchester Centre for Genomic Medicin... 1 Metabolic Rare Diseases Unit Departme... 1
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Free Medical Journals od 2013
PubMed Central od 2013
Open Access Digital Library od 2013-01-01
Open Access Digital Library od 2013-01-01
Open Access Digital Library od 2013-01-01
Elsevier Open Access Journals od 2013
ROAD: Directory of Open Access Scholarly Resources od 2013
PubMed
36306676
DOI
10.1016/j.redox.2022.102517
Knihovny.cz E-zdroje
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including bioavailable sulfide) in 37 untreated or insufficiently treated patients with seven ultrarare enzyme deficiencies and compared them to 63 controls. Surprisingly, we observed that patients with severe deficiency in cystathionine β-synthase (CBS) or cystathionine γ-lyase (CSE) - the enzymes primarily responsible for H2S synthesis - exhibited increased and normal levels of bioavailable sulfide, respectively. However, an approximately 21-fold increase of urinary homolanthionine in CBS deficiency strongly suggests that lacking CBS activity is compensated for by an increase in CSE-dependent H2S synthesis from accumulating homocysteine, which suggests a control of H2S homeostasis in vivo. In deficiency of sulfide:quinone oxidoreductase - the first enzyme in mitochondrial H2S oxidation - we found normal H2S concentrations in a symptomatic patient and his asymptomatic sibling, and elevated levels in an asymptomatic sibling, challenging the requirement for this enzyme in catabolizing H2S under physiological conditions. Patients with ethylmalonic encephalopathy and sulfite oxidase/molybdenum cofactor deficiencies exhibited massive accumulation of thiosulfate and sulfite with formation of large amounts of S-sulfocysteine and S-sulfohomocysteine, increased renal losses of sulfur compounds and concomitant strong reduction in plasma total cysteine. Our results demonstrate the value of a comprehensive assessment of sulfur compounds in severe disorders of homocysteine/cysteine metabolism and provide evidence for redundancy and compensatory mechanisms in the maintenance of H2S homeostasis.
- MeSH
- cystein MeSH
- homeostáza MeSH
- homocystein MeSH
- lidé MeSH
- síra MeSH
- sulfan * metabolismus MeSH
- sulfidy metabolismus MeSH
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- lidé MeSH
- Publikační typ
- časopisecké články MeSH
- práce podpořená grantem MeSH
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