Results 1 to 10 of about 6,314 (146)

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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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
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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, 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
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A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review [PDF]

American Journal of Ophthalmology Case Reports
Purpose: To report the application of a refined total capsular bag suspension technique for lens subluxation from Cystathionine beta-synthase (CBS) deficiency.
Yuezhu Lu, Yang Jiang, Zaowen Wang
doaj   +2 more sources

Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein [PDF]

Biomedicines
Background: Cystathione beta-synthase (CBS) T236N is a novel mutation associated with pyridoxine non-responsiveness, which presents a significant difficulty in the medical treatment of homocystinuria. Reported severe phenotypes in homocystinuria patients
Duaa W. Al-Sadeq, Angelos Thanassoulas, Maria Theodoridou, Gheyath K. Nasrallah, Michail Nomikos   +4 more
doaj   +2 more sources

Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]

Biomedicines
Background: Homocystinuria caused by cystathionine β-synthase (CBS) deficiency is the most common congenital disorder related to sulfur amino acid metabolism, manifested by neurological, vascular, and connective tissue involvement.
Xin Liu, Xinhua Liu, Jinfeng Liu, Junhong Guo, Danyao Nie, Jiantao Wang   +5 more
doaj   +2 more sources