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
Maria Wróbel +2 more
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Architecture and regulation of filamentous human cystathionine beta-synthase. [PDF]
Nat Commun, 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
McCorvie TJ +10 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 Kožich +2 more
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Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency. [PDF]
Sci RepCystathionine beta-synthase deficiency (CBSD) is the most prevalent inherited disorder of homocysteine metabolism in the transsulphuration pathway. Research have suggested oxidative stress and inflammation as candidate pathogenic mechanisms in CBSD. This
Balci MC +8 more
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Structural basis for a filamentous morpheein model of human cystathionine beta-synthase. [PDF]
Nat CommunHuman cystathionine beta-synthase (CBS) is a vital enzyme that regulates sulfur amino acid metabolism, hydrogen sulfide production, and cellular redox balance.
Mohammed I +9 more
europepmc +3 more sources
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.
Tomas Majtan
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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 BiolBackground: 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.
Majtan T +14 more
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Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency. [PDF]
BMC Ophthalmol, 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.
Hua N +6 more
europepmc +3 more sources
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase. [PDF]
Genome Med, 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 ...
Sun S +12 more
europepmc +3 more sources
An eQTL in the cystathionine beta synthase gene is linked to osteoporosis in laying hens. [PDF]
Genet Sel Evol, 2020 Background Skeletal damage is a challenge for laying hens because the physiological adaptations required for egg laying make them susceptible to osteoporosis.
De Koning DJ +16 more
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