Results 1 to 10 of about 12,878 (190)

Architecture and regulation of filamentous human cystathionine beta-synthase [PDF]

Nature Communications
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, Douglas Adamoski, Raquel A. C. Machado, Jiazhi Tang, Henry J. Bailey, Douglas S. M. Ferreira, Claire Strain-Damerell, Arnaud Baslé, Andre L. B. Ambrosio, Sandra M. G. Dias, Wyatt W. Yue   +10 more
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Oxidative damage and mitochondrial dysfunction in cystathionine beta-synthase deficiency [PDF]

Scientific Reports
Cystathionine 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
Mehmet Cihan Balci, Asuman Gedikbasi, Sukru Anil Dogan, Sevde Kahraman, Suzin Tatoryan, Sebnem Tekin Neijmann, Meryem Karaca, Fatmahan Atalar, Gulden Gokcay   +8 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, Maria Wróbel, Ewa Jasek-Gajda, Leszek Rydz   +3 more
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Cystathionine beta-synthase deficiency causes fat loss in mice. [PDF]

PLoS ONE, 2011
Cystathionine beta synthase (CBS) is the rate-limiting enzyme responsible for the de novo synthesis of cysteine. Patients with CBS deficiency have greatly elevated plasma total homocysteine (tHcy), decreased levels of plasma total cysteine (tCys), and ...
Sapna Gupta, Warren D Kruger
doaj   +4 more sources

Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria. [PDF]

Br J Pharmacol, 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 of homocysteine, a toxic intermediate of methionine metabolism that is thought to be the major cause
Majtan T, Kožich V, Kruger WD.
europepmc   +3 more sources

Cystathionine beta synthase deficiency and brain edema associated with methionine excess under betaine supplementation: Four new cases and a review of the evidence. [PDF]

JIMD Rep, 2020
CBS deficient individuals undergoing betaine supplementation without sufficient dietary methionine restriction can develop severe hypermethioninemia and brain edema. Brain edema has also been observed in individuals with severe hypermethioninemia without
Schwahn BC, Scheffner T, Stepman H, Verloo P, Das AM, Fletcher J, Blom HJ, Benoist JF, Barshop BA, Barea JJ, Feigenbaum A.   +10 more
europepmc   +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, Yuxian Ning, Hui Zheng, Ledong Zhao, Xuehan Qian, Charles Wormington, Jingyun Wang   +6 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, Jochen Weile, Marta Verby, Yingzhou Wu, Yang Wang, Atina G. Cote, Iosifina Fotiadou, Julia Kitaygorodsky, Marc Vidal, Jasper Rine, Pavel Ješina, Viktor Kožich, Frederick P. Roth   +12 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 Biology
Background: 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, Thomas Olsen, Jitka Sokolova, Jakub Krijt, Michaela Křížková, Tomoaki Ida, Tamás Ditrói, Hana Hansikova, Ondrej Vit, Jiri Petrak, Ladislav Kuchař, Warren D. Kruger, Péter Nagy, Takaaki Akaike, Viktor Kožich   +14 more
doaj   +2 more sources

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, Nazaret Dominguez-Gasca, Robert H. Fleming, Andrew Gill, Dominic Kurian, Andrew Law, Heather A. McCormack, David Morrice, Estefania Sanchez-Rodriguez, Alejandro B. Rodriguez-Navarro, Rudolf Preisinger, Matthias Schmutz, Veronica Šmídová, Frances Turner, Peter W. Wilson, Rongyan Zhou, Ian C. Dunn   +16 more
doaj   +2 more sources