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 ReportsPurpose: 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
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Cystathionine beta synthase expression in mouse retina. [PDF]
Curr Eye Res, 2013 Abstract Purpose: Cystathionine β-synthase (CBS), a key enzyme in the transsulfuration metabolic pathway, converts homocysteine to cystathionine, which is converted to cysteine required for the synthesis of major retinal antioxidant glutathione (GSH).
Markand S +8 more
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Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein [PDF]
BiomedicinesBackground: 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 +4 more
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Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria [PDF]
BiomedicinesBackground: 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 +5 more
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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
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Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization [PDF]
Molecular Genetics and Metabolism Reports, 2018 We present the results of the 45-year clinical observation of 27 Russian homocystinuria patients. We made a mutation analysis of the CBS gene for thirteen patients from eleven unrelated genealogies.
Elena Voskoboeva +3 more
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Structural basis for substrate activation and regulation by cystathionine beta-synthase (CBS) domains in cystathionine β-synthase [PDF]
Proceedings of the National Academy of Sciences, 2010 The catalytic potential for H 2 S biogenesis and homocysteine clearance converge at the active site of cystathionine β-synthase (CBS), a pyridoxal phosphate-dependent enzyme. CBS catalyzes β-replacement reactions of either serine or cysteine by homocysteine to give cystathionine and water or H 2
Markos, Koutmos +3 more
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Architecture and regulation of filamentous human cystathionine beta-synthase
, 2023 Cystathionine beta-synthase (CBS) is an essential metabolic enzyme across all domains of life involved in the production of glutathione, cysteine, and hydrogen sulphide1–4. Human CBS appends to its conserved catalytic domain a regulatory domain that modulates activity by S-adenosyl-L-methionine (SAM) and promotes oligomerization5–12, however the ...
McCorvie TJ +4 more
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Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency. [PDF]
J Inherit Metab Dis, 2017 AbstractCystathionine beta‐synthase (CBS) deficiency is a rare inherited disorder in the methionine catabolic pathway, in which the impaired synthesis of cystathionine leads to accumulation of homocysteine. Patients can present to many different specialists and diagnosis is often delayed.
Morris AA +22 more
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Genetic studies of the cystathionine beta-synthase gene and myelomeningocele. [PDF]
Birth Defects Res A Clin Mol Teratol, 2012 AbstractBACKGROUND: Among infants born with spina bifida, the most common defect is myelomeningocele (MM). The prevention of MM by maternal periconceptional folic acid (FA) supplementation has been studied extensively. The protective effect provided by FA suggests that the genes involved in folate metabolism, such as cystathionine beta‐synthase (CBS ...
Tilley MM, Northrup H, Au KS.
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