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
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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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Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria [PDF]
Molecular Genetics & Genomic MedicineBackground Classical homocystinuria (HCU), caused by cystathionine beta‐synthase (CBS) deficiency, exhibits significant geographic variability in its mutational spectrum.
Jingfei Zhang +6 more
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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.
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Recurrent venous thrombosis in an adolescent male with CBS mutation and persistent antiphospholipid antibody positivity: a case report [PDF]
Thrombosis JournalHomocysteine (Hcy) contributes to endothelial dysfunction and impaired thrombolysis, and genetic polymorphisms that elevate plasma Hcy concentrations have been linked to an increased risk of thrombosis. Notably, mutations in the cystathionine β-synthase (
Yuebing Wang, Ru Li, Chun Li
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Role of 3-Mercaptopyruvate Sulfurtransferase (3-MST) in Physiology and Disease
Antioxidants, 2023 3-mercaptopyruvate sulfurtransferase (3-MST) plays the important role of producing hydrogen sulfide. Conserved from bacteria to Mammalia, this enzyme is localized in mitochondria as well as the cytoplasm. 3-MST mediates the reaction of 3-mercaptopyruvate
Swetha Pavani Rao +3 more
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Huntingtin interacts with cystathionine beta-synthase [PDF]
Human Molecular Genetics, 1998 We have screened a rat brain library to identify proteins which interact with the 5'-end of huntingtin (amino acids 1-171), including the polyglutamine tract, in the yeast two-hybrid system. We detected an interaction with cystathionine beta-synthase (CBS) [L-serine hydrolyase (adding homocysteine), EC 4.2.1.22], which was confirmed in vitro using His ...
J M, Boutell +3 more
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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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Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70. [PDF]
PLoS Genetics, 2010 Missense mutant proteins, such as those produced in individuals with genetic diseases, are often misfolded and subject to processing by intracellular quality control systems. Previously, we have shown using a yeast system that enzymatic function could be
Laishram R Singh +4 more
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