Associated Papers
Outcomes of the national premarital genetic screening program for cystic fibrosis, homocystinuria, and spinal muscular atrophy in Qatar.
AlMarzooqi SK et al.
Human Genomics, 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
Think classical homocystinuria if the genetic test did not confirm Marfan syndrome: Late diagnosis and phenotypic variability in adult siblings with classical homocystinuria.
Sultan R et al.
Molecular Genetics and Metabolism Reports, 2025
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 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
Unraveling CBS Mutations and Their Clinical Impact in a Chinese Family With Classical Homocystinuria.
Zhang J et al.
Molecular Genetics & Genomic Medicine, 2025
Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.
Mohamed AS et al.
Jimd Reports, 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
Characteristics of clinical manifestations and molecular genetics of inherited hyperhomocysteinemia in children and adolescents: a single center experience from China.
Qu R et al.
Frontiers in Neurology, 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
Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.
Al-Sadeq DW et al.
Biomedicines, 2024
'A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy'.
Frongia I et al.
Journal of Neuromuscular Diseases, 2024
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.
Ziegler SG et al.
Disease Models & Mechanisms, 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
Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka.
Samarasinghe N et al.
Journal, Genetic Engineering & Biotechnology, 2022
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
Pyridoxine non-responsive p.R336C mutation alters the molecular properties of cystathionine beta-synthase leading to severe homocystinuria phenotype.
Al-Sadeq DW et al.
Biochimica Et Biophysica Acta. General Subjects, 2022
Qatar genome: Insights on genomics from the Middle East.
Mbarek H et al.
Human Mutation, 2022
Early Diagnosis of Classic Homocystinuria in Kuwait through Newborn Screening: A 6-Year Experience.
Alsharhan H et al.
International Journal of Neonatal Screening, 2021
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
Inherited disorders of sulfur amino acid metabolism: recent advances in therapy.
Kožich V et al.
Current Opinion in Clinical Nutrition and Metabolic Care, 2021
Noninvasive Prenatal Testing of Methylmalonic Acidemia cblC Type Using the cSMART Assay for MMACHC Gene Mutations.
Lv W et al.
Frontiers in Genetics, 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
Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.
Al-Dewik N et al.
Journal of Inherited Metabolic Disease, 2019
Analysis of the Qatari R336C cystathionine β-synthase protein in mice.
Gupta S et al.
Journal of Inherited Metabolic Disease, 2019
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.
Ismail HM et al.
Human Mutation, 2019
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
Nitration-mediated deficiency of cystathionine β-synthase activity accelerates the progression of hyperhomocysteinemia.
Wang H et al.
Free Radical Biology & Medicine, 2017
Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.
Morris AA et al.
Journal of Inherited Metabolic Disease, 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
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
Mendes MI et al.
Human Molecular Genetics, 2015