Architecture and regulation of filamentous human cystathionine beta-synthase [PDF]
Nature Communications, 2023 Cystathionine beta-synthase (CBS) is an essential metabolic enzyme across all domains of life for the production of glutathione, cysteine, and hydrogen sulfide. Appended to the conserved catalytic domain of human CBS is a regulatory domain that modulates
Thomas J. McCorvie +10 more
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Sulfurtransferases and Cystathionine Beta-Synthase Expression in Different Human Leukemia Cell Lines [PDF]
Biomolecules, 2022 The studies concerned the expression of sulfurtransferases and cystathionine beta-synthase in six human leukemia cell lines: B cell acute lymphoblastic leukemia-B-ALL (REH cells), T cell acute lymphoblastic leukemia-T-ALL (DND-41 and MOLT-4 cells), acute
Halina Jurkowska +3 more
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A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase [PDF]
Genome Medicine, 2020 Background For the majority of rare clinical missense variants, pathogenicity status cannot currently be classified. Classical homocystinuria, characterized by elevated homocysteine in plasma and urine, is caused by variants in the cystathionine beta ...
Song Sun +12 more
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Recent therapeutic approaches to cystathionine beta‐synthase‐deficient homocystinuria [PDF]
British Journal of Pharmacology, 2023 Cystathionine beta‐synthase (CBS)‐deficient homocystinuria (HCU) is the most common inborn error of sulfur amino acid metabolism. The pyridoxine non‐responsive form of the disease manifests itself by massively increasing plasma and tissue concentrations ...
Viktor Kozich, Tomáš Majtan
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Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants [PDF]
Molecular and Cellular Biology, 2023 Homocystinuria (HCU), an inherited metabolic disorder caused by lack of cystathionine beta-synthase (CBS) activity, is chiefly caused by misfolding of single amino acid residue missense pathogenic variants.
Tomáš Majtan
exaly +3 more sources
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency [PDF]
BMC Ophthalmology, 2021 Background Ectopia lentis is the common ocular manifestation of homocystinuria resulting from cystathionine beta-synthase (CBS) deficiency which has a high risk of thromboembolic complications.
Ning Hua +6 more
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Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function [PDF]
Redox BiologyBackground: Cystathionine β-synthase (CBS)-deficient homocystinuria (HCU) is an inherited disorder of sulfur amino acid metabolism with varying severity and organ complications, and a limited knowledge about underlying pathophysiological processes.
Tomas Majtan +14 more
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An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens [PDF]
Genetics Selection Evolution, 2020 Background Skeletal damage is a challenge for laying hens because the physiological adaptations required for egg laying make them susceptible to osteoporosis.
Dirk-Jan De Koning +16 more
doaj +3 more sources
H2S and homocysteine control a novel feedback regulation of cystathionine beta synthase and cystathionine gamma lyase in cardiomyocytes [PDF]
Scientific Reports, 2017 Hydrogen sulfide (H2S), a cardioprotective gas, is endogenously produced from homocysteine by cystathionine beta synthase (CBS) and cystathionine gamma lyase (CSE) enzymes.
Shyam Sundar Nandi, Paras Kumar Mishra
doaj +3 more sources
New insights into the regulation of Cystathionine beta synthase (CBS), an enzyme involved in intellectual deficiency in Down syndrome. [PDF]
Front Neurosci, 2022 Down syndrome (DS), the most frequent chromosomic aberration, results from the presence of an extra copy of chromosome 21. The identification of genes which overexpression contributes to intellectual disability (ID) in DS is important to understand the ...
Conan P +9 more
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