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
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
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
Givinostat rescues folding of cystathionine beta-synthase and ameliorates murine homocystinuria.
Petrosino M et al.
Biochemical Pharmacology, 2025
Dietary Shift Leads to Venous Thrombosis-Induced Congestive Liver Failure in CBS-Deficient Mice.
Lee HO et al.
Journal of Inherited Metabolic Disease, 2025
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Identification of Monogenic Causes of Arterial Ischemic Stroke in Children with Arteriopathies by Next-Generation Sequencing.
Balcerzyk-Matić A et al.
International Journal of Molecular Sciences, 2025
Vitamin B Therapy, Methionine Synthase and Cystathionine Beta-Synthase (CBS) Gene Polymorphisms, and Their Impact on Homocysteine and Cardiovascular Events in Ischemic Stroke With Normal Renal Function: A Randomized Controlled Trial.
Kataria N et al.
Cureus, 2025
Identification and Functional Analysis of Cystathionine Beta-Synthase Gene Mutations in Chinese Families with Classical Homocystinuria.
Liu X et al.
Biomedicines, 2025
Homocysteine Metabolites, Endothelial Dysfunction, and Cardiovascular Disease.
Jakubowski H et al.
International Journal of Molecular Sciences, 2025
Methylenetetrahydrofolate Reductase Gene Polymorphism as a Risk Factor for Coronary Artery Disease.
Sowndarya K et al.
Indian Journal of Clinical Biochemistry : Ijcb, 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
Next-Generation Sequencing Infertility Panel in Turkey: First Results.
Ikbal Atli E et al.
Balkan Journal of Medical Genetics : Bjmg, 2024
Homocysteine metabolites impair the PHF8/H4K20me1/mTOR/autophagy pathway by upregulating the expression of histone demethylase PHF8-targeting microRNAs in human vascular endothelial cells and mice.
Witucki Ł et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 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
Homocysteine, blood pressure and gene-diet interactions in relation to vascular function measures of black South Africans.
du Plessis JP et al.
Genes & Nutrition, 2024
Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria.
Mijatovic E et al.
Protein Science : a Publication of the Protein Society, 2024
Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
Majtan T et al.
Redox Biology, 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
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
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
An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report.
Donis KC et al.
Genetics and Molecular Biology, 2024
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Ziegler SG et al.
Disease Models & Mechanisms, 2023
Homocysteine metabolites inhibit autophagy, elevate amyloid beta, and induce neuropathy by impairing Phf8/H4K20me1-dependent epigenetic regulation of mTOR in cystathionine β-synthase-deficient mice.
Witucki Ł et al.
Journal of Inherited Metabolic Disease, 2023
Hyperhomocysteinemia and Accelerated Aging: The Pathogenic Role of Increased Homocysteine in Atherosclerosis, Osteoporosis, and Neurodegeneration.
Alkaissi H et al.
Cureus, 2023
Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine.
Elkhateeb N et al.
Jimd Reports, 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
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
Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants.
Collard R et al.
Molecular and Cellular Biology, 2023