Associated Papers
The disease-linked R336C mutation in cystathionine β-synthase disrupts communication with the PLP cofactor, yet maintains the enzyme's overall structural integrity.
Conter C et al.
The Febs Journal, 2025
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
Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.
Kiewiet G et al.
International Journal of Neonatal Screening, 2024
Truncated titin is structurally integrated into the human dilated cardiomyopathic sarcomere.
Kellermayer D et al.
The Journal of Clinical Investigation, 2024
Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation.
Roman JV et al.
The Journal of Biological Chemistry, 2023
Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature.
Candela E et al.
Children (basel, Switzerland), 2023
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
Cystathionine β-Synthase in Physiology and Cancer.
Zhu H et al.
Biomed Research International, 2018
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
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
Alcaide P et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 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
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
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
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
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M et al.
Human Mutation, 2011
Classical familial homocystinuria in an adult presenting as an isolated lens subluxation.
Martínez-Gutiérrez JD et al.
International Ophthalmology, 2011
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
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
Correlation between cystathionine beta synthase gene polymorphisms, plasma homocysteine and idiopathic mental retardation in Indian individuals from Kolkata.
Dutta S et al.
Neuroscience Letters, 2009
Mutations in cystathionine beta-synthase or methylenetetrahydrofolate reductase gene increase N-homocysteinylated protein levels in humans.
Jakubowski H et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2008
Erratum to: The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R et al.
Journal of Human Genetics, 2007
Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.
Yamanishi M et al.
Journal of Inorganic Biochemistry, 2006
Human cystathionine beta-synthase is a target for sumoylation.
Kabil O et al.
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
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
Urreizti R et al.
Journal of Human Genetics, 2006
Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.
Sen S et al.
Biochemistry, 2005
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
Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.
De Lucca M et al.
Molecular Genetics and Metabolism, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
Moat SJ et al.
Human Mutation, 2004
Bateman domains and adenosine derivatives form a binding contract.
Kemp BE
The Journal of Clinical Investigation, 2004
Reaction mechanism and regulation of cystathionine beta-synthase.
Banerjee R et al.
Biochimica Et Biophysica Acta, 2003