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
doaj +2 more sources
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
doaj +2 more sources
Cystathionine beta-synthase promotes anoikis resistance and transcoelomic metastasis in ovarian cancer via SP1- ITGB1 regulation [PDF]
Experimental Hematology & OncologyAnoikis resistance is crucial for ovarian cancer (OvCa) transcoelomic metastasis, during which exfoliated OvCa cells survive as spheroids before invading the omentum.
Pallab Shaw +12 more
doaj +2 more sources
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
doaj +2 more sources
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria [PDF]
British Journal of Pharmacology, 2023 Viktor Kožich +2 more
exaly +2 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 Tomas Majtan
exaly +2 more sources
Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance [PDF]
JIMD ReportsClassical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications.
Marisa Chard +2 more
doaj +2 more sources
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
doaj +1 more source
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 +1 more source
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
doaj +1 more source