Associated Papers
Structure-activity relationship of S-adenosylmethionine analogs as pharmacological chaperones for cystathionine beta-synthase-deficient homocystinuria.
Philipp TM et al.
International Journal of Biological Macromolecules, 2026
Understanding the Impact of Mutations in the Cystathionine Beta-Synthase Gene: Towards Novel Therapeutics for Homocystinuria.
Majtan T et al.
Molecular and Cellular Biology, 2025
Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
Kožich V et al.
Journal of Inherited Metabolic Disease, 2024
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T et al.
British Journal of Pharmacology, 2023
Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice.
Gupta S et al.
Plos One, 2023
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
Analysis of differential neonatal lethality in cystathionine β-synthase deficient mouse models using metabolic profiling.
Gupta S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021
Classical homocystinuria: A common inborn error of metabolism? An epidemiological study based on genetic databases.
Weber Hoss GR et al.
Molecular Genetics & Genomic Medicine, 2020
The Spectrum of Mutations of Homocystinuria in the MENA Region.
Al-Sadeq DW et al.
Genes, 2020
A proactive genotype-to-patient-phenotype map for cystathionine beta-synthase.
Sun S et al.
Genome Medicine, 2020
Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S et al.
Journal of Inherited Metabolic Disease, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Ismail HM et al.
Human Mutation, 2019
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase (CBS) reveal effects on CBS activity but not stability.
Gupta S et al.
The Journal of Biological Chemistry, 2018
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.
Gupta S et al.
Human Mutation, 2017
Oligomeric status of human cystathionine beta-synthase modulates AdoMet binding.
Pey AL et al.
Febs Letters, 2016
Molecular and biochemical investigations of patients with intermediate or severe hyperhomocysteinemia.
Sørensen JT et al.
Molecular Genetics and Metabolism, 2016
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 2015
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.
Mendes MI et al.
Human Mutation, 2014
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
Mendes MI et al.
Journal of Inherited Metabolic Disease, 2014
Domain organization, catalysis and regulation of eukaryotic cystathionine beta-synthases.
Majtan T et al.
Plos One, 2014
Characterization of two pathogenic mutations in cystathionine beta-synthase: different intracellular locations for wild-type and mutant proteins.
Casique L et al.
Gene, 2013
Structural basis of regulation and oligomerization of human cystathionine β-synthase, the central enzyme of transsulfuration.
Ereño-Orbea J et al.
Proceedings of the National Academy of Sciences of the United States of America, 2013
Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.
Gupta S et al.
Human Mutation, 2013
Purification, crystallization and preliminary crystallographic analysis of human cystathionine β-synthase.
Oyenarte I et al.
Acta Crystallographica. Section F, Structural Biology and Crystallization Communications, 2012
[Polymorphism of genes encoding homocysteine metabolism-related enzymes and risk for cardio-cerebrovascular disease].
Chen QR et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2012
Conformational properties of nine purified cystathionine β-synthase mutants.
Hnízda A et al.
Biochemistry, 2012
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
Hnízda A et al.
Journal of Inherited Metabolic Disease, 2012
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
Kopecká J et al.
Journal of Inherited Metabolic Disease, 2011
Vascular complications of cystathionine β-synthase deficiency: future directions for homocysteine-to-hydrogen sulfide research.
Beard RS et al.
American Journal of Physiology. Heart and Circulatory Physiology, 2011
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V et al.
Human Mutation, 2010
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
Majtan T et al.
The Journal of Biological Chemistry, 2010
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
Polymorphism of genes encoding homocysteine metabolism-related enzymes and risk for cardiovascular disease.
Malinowska A et al.
Nutrition Research (new York, N.y.), 2009
Heme regulation of human cystathionine beta-synthase activity: insights from fluorescence and Raman spectroscopy.
Weeks CL et al.
Journal of the American Chemical Society, 2009
Mouse models of cystathionine beta-synthase deficiency reveal significant threshold effects of hyperhomocysteinemia.
Gupta S et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2009
Cystathionine beta-synthase p.S466L mutation causes hyperhomocysteinemia in mice.
Gupta S et al.
Human Mutation, 2008
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Solvent-accessible cysteines in human cystathionine beta-synthase: crucial role of cysteine 431 in S-adenosyl-L-methionine binding.
Frank N et al.
Biochemistry, 2006
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
Urreizti R et al.
Human Mutation, 2006
Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein.
Banerjee R et al.
Archives of Biochemistry and Biophysics, 2005
Isolated thrombosis due to the cystathionine beta-synthase mutation c.833T>C (1278T).
Linnebank M et al.
Journal of Inherited Metabolic Disease, 2003
Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.
Oliveriusová J et al.
The Journal of Biological Chemistry, 2002