Associated Papers
Pancreatitis Is an Emerging Rare Complication of Classic Homocystinuria: A Case Series and Literature Review.
Aljaberi R et al.
American Journal of Medical Genetics. Part A, 2026
Homocystinuria: Advances in metabolic and molecular therapies targeting homocysteine pathways (Review).
Althubity AA
Molecular Medicine Reports, 2026
Uncovering Hyperhomocysteinemia: Global Risk Patterns and Molecular Disruption in Brain and Vascular Health.
Ramires Júnior OV et al.
Journal of Neurochemistry, 2025
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
Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.
McGrath-Cadell L et al.
Journal of the American Heart Association, 2025
Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria.
Liu X et al.
Biomedicines, 2025
Genotypic Spectrum in a Cohort of Sri Lankan Patients With Homocystinuria.
Dilanthi HW et al.
Jimd Reports, 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
Association between CBS gene T833C, G919A and 844ins68 polymorphisms in the 8th exon region and coronary artery disease: a meta-analysis.
Zhu Z et al.
Clinical and Experimental Hypertension (new York, N.y. : 1993), 2024
Impact of primary sequence changes on the self-association properties of mammalian cystathionine beta-synthase enzymes.
Lee HO et al.
Protein Science : a Publication of the Protein Society, 2024
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
Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients.
Khalil A et al.
Nucleosides, Nucleotides & Nucleic Acids, 2024
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Ziegler SG et al.
Disease Models & Mechanisms, 2023
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
Homocystinuria and ocular complications - A review.
Rahman M et al.
Indian Journal of Ophthalmology, 2022
Association of methylenetetrahydrofolate reductase (MTHFR) rs1801133 (677C>T) gene polymorphism with ischemic stroke risk in different populations: An updated meta-analysis.
Zhao L et al.
Frontiers in Genetics, 2022
Congenital cataract: An ocular manifestation of classical homocystinuria.
Saba N et al.
Molecular Genetics & Genomic Medicine, 2021
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
Recurrent dislocation of binocular crystal lenses in a patient with cystathionine beta-synthase deficiency.
Hua N et al.
Bmc Ophthalmology, 2021
Cystathionine β-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Kožich V et al.
Journal of Inherited Metabolic Disease, 2021
Hyperhomocysteinemia and dyslipidemia in point mutation G307S of cystathionine β-synthase-deficient rabbit generated using CRISPR/Cas9.
Zhang T et al.
Lipids in Health and Disease, 2020
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 2020
Long-Term Outcomes of Adult Patients with Homocystinuria before and after Newborn Screening.
Yamada K et al.
International Journal of Neonatal Screening, 2020
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
Cystathionine β-synthase and methylenetetrahydrofolate reductase mutations in Mexican individuals with hyperhomocysteinemia.
Figueroa-Torres AG et al.
Sage Open Medicine, 2020
Hypermethioninemia in Campania: Results from 10 years of newborn screening.
Villani GRD et al.
Molecular Genetics and Metabolism Reports, 2019
Behavior, body composition, and vascular phenotype of homocystinuric mice on methionine-restricted diet or enzyme replacement therapy.
Majtan T et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2019
Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants.
Kasak L et al.
Human Mutation, 2019
Plasma methionine concentrations and incidence of hypermethioninemic encephalopathy during infancy in a large cohort of 36 patients with classical homocystinuria in the Republic of Ireland.
Allen J et al.
Jimd Reports, 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
[Reye syndrome and sudden death symptoms after oral administration of nimesulide due to upper respiratory tract infection in a boy].
Feng LF et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 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
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX et al.
World Journal of Pediatrics : Wjp, 2018
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Majtan T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2018
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.
Voskoboeva E et al.
Molecular Genetics and Metabolism Reports, 2018
CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.
Poloni S et al.
Molecular Genetics & Genomic Medicine, 2018
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
Interactions among methylenetetrahydrofolate reductase (MTHFR) and cystathionine β-synthase (CBS) polymorphisms - a cross-sectional study: multiple heterozygosis as a risk factor for higher homocysteine levels and vaso-occlusive episodes.
Amaral FM et al.
Genetics and Molecular Research : Gmr, 2017
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA et al.
Journal of Inherited Metabolic Disease, 2017
Novel cystathionine β-synthase gene mutations in a Filipino patient with classic homocystinuria.
Silao CL et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 2015