Associated Papers
Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).
Althubity AA
Molecular Medicine Reports, 2026
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
Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria.
Petrosino M et al.
Biochemical Pharmacology, 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
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
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria.
Al-Sadeq DW et al.
The Biochemical Journal, 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
Understanding the role of R266K mutation in cystathionine β-synthase (CBS) enzyme: an in silico study.
Bhatt A et al.
Journal of Biomolecular Structure & Dynamics, 2022
A narrative review on the role of folate-mediated one-carbon metabolism and its associated gene polymorphisms in posing risk to preeclampsia.
Mahmood S et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 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
Association of Cystathionine β-Synthase Gene Polymorphisms With Preeclampsia.
de León Bautista MP et al.
Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 2018
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
Cystathionine β-synthase deficiency: Of mice and men.
Kruger WD
Molecular Genetics and Metabolism, 2017
A Clinically Relevant Variant of the Human Hydrogen Sulfide-Synthesizing Enzyme Cystathionine β-Synthase: Increased CO Reactivity as a Novel Molecular Mechanism of Pathogenicity?
Vicente JB et al.
Oxidative Medicine and Cellular Longevity, 2017
Oligomeric status of human cystathionine beta-synthase modulates AdoMet binding.
Pey AL et al.
Febs Letters, 2016
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 2015
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
Molecular mechanisms of disease-causing missense mutations.
Stefl S et al.
Journal of Molecular Biology, 2013
Mono and dual cofactor dependence of human cystathionine β-synthase enzyme variants in vivo and in vitro.
Dimster-Denk D et al.
G3 (bethesda, Md.), 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
Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.
Smith AT et al.
Biochemistry, 2012
Conformational properties of nine purified cystathionine β-synthase mutants.
Hnízda A et al.
Biochemistry, 2012
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant.
Majtan T et al.
Protein Expression and Purification, 2012
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
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V et al.
Human Mutation, 2010
Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.
Chen X et al.
Human Mutation, 2006
Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.
Katsushima F et al.
Molecular Genetics and Metabolism, 2006
Expression of mutant human cystathionine beta-synthase rescues neonatal lethality but not homocystinuria in a mouse model.
Wang L et al.
Human Molecular Genetics, 2005
Screening for serum total homocysteine in newborn children.
Refsum H et al.
Clinical Chemistry, 2004
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
Moat SJ et al.
Human Mutation, 2004