Associated Papers
Adolescent-onset hyperhomocysteinaemia: cases report and literature review.
Li Y et al.
Neurocase, 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
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T et al.
British Journal of Pharmacology, 2023
Homocystinuria and ocular complications - A review.
Rahman M et al.
Indian Journal of Ophthalmology, 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
Seven novel genetic variants in a North Indian cohort with classical homocystinuria.
Kaur R et al.
Scientific Reports, 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
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
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 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
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
Mayfield JA et al.
Genetics, 2012
Hypermethioninemias of genetic and non-genetic origin: A review.
Mudd SH
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2011
Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.
Singh LR et al.
Plos Genetics, 2010
Chemical chaperone rescue of mutant human cystathionine beta-synthase.
Singh LR et al.
Molecular Genetics and Metabolism, 2007
High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.
Bermúdez M et al.
Human Mutation, 2006
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
Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.
Guttormsen AB et al.
American Journal of Medical Genetics, 2001
Four common mutations of the cystathionine beta-synthase gene detected by multiplex PCR and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry.
Harksen A et al.
Clinical Chemistry, 1999
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Temperature and pH effects on single-strand conformation polymorphism analysis by capillary electrophoresis.
Ren J et al.
Human Mutation, 1999
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
Gallagher PM et al.
Molecular Genetics and Metabolism, 1998
Correction of disease-causing CBS mutations in yeast.
Shan X et al.
Nature Genetics, 1998
Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.
Kim CE et al.
Human Molecular Genetics, 1997
Two siblings with vitamin B6-nonresponsive cystathionine beta-synthase deficiency and differing blood methionine levels during the neonatal period.
Watanabe T et al.
The Journal of Medical Investigation : Jmi, 1997
Cystathionine beta-synthase deficiency: effects of betaine supplementation after methionine restriction in B6-nonresponsive homocystinuria.
Singh RH et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0