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
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
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
Concordance Between Biochemical and Molecular Diagnosis Obtained by WES in Mexican Patients with Inborn Errors of Intermediary Metabolism: Utility for Therapeutic Management.
Vela-Amieva M et al.
International Journal of Molecular Sciences, 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
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
Protein-Protein Interfaces as Druggable Targets: A Common Motif of the Pyridoxal-5'-Phosphate-Dependent Enzymes to Receive the Coenzyme from Its Producers.
Aleshin VA et al.
Biochemistry. Biokhimiia, 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
Replacing the SpCas9 HNH domain by deaminases generates compact base editors with an alternative targeting scope.
Villiger L et al.
Molecular Therapy. Nucleic Acids, 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
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
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
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
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
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
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA et al.
Journal of Inherited Metabolic Disease, 2017
Peripheral nerve involvement in classic homocystinuria: an unusual association.
Oliveira Santos M et al.
Bmj Case Reports, 2016
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
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
Nonsynonymous Single-Nucleotide Variations on Some Posttranslational Modifications of Human Proteins and the Association with Diseases.
Sun B et al.
Computational and Mathematical Methods in Medicine, 2015
Diagnosis of cystathionine beta-synthase deficiency by genetic analysis.
Suri F et al.
Journal of the Neurological Sciences, 2014
High prevalence of cerebral venous sinus thrombosis (CVST) as presentation of cystathionine beta-synthase deficiency in childhood: molecular and clinical findings of Turkish probands.
Karaca M et al.
Gene, 2014
A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.
Sarov M et al.
Journal of the Neurological Sciences, 2014
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
Stabler SP et al.
Jimd Reports, 2013
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