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
Adolescent-onset hyperhomocysteinaemia: cases report and literature review.
Li Y et al.
Neurocase, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 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
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
satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.
Hoskins I et al.
Genome Biology, 2023
Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria.
Majtan T et al.
British Journal of Pharmacology, 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
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
How to fix a broken protein: restoring function to mutant human cystathionine β-synthase.
Kruger WD
Human Genetics, 2022
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 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
[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
CBS mutations and MTFHR SNPs causative of hyperhomocysteinemia in Pakistani children.
Ibrahim S et al.
Molecular Biology Reports, 2018
Eight novel mutations of CBS gene in nine Chinese patients with classical homocystinuria.
Li DX et al.
World Journal of Pediatrics : Wjp, 2018
Potential Pharmacological Chaperones for Cystathionine Beta-Synthase-Deficient Homocystinuria.
Majtan T et al.
Handbook of Experimental Pharmacology, 2018
Oligomeric status of human cystathionine beta-synthase modulates AdoMet binding.
Pey AL et al.
Febs Letters, 2016
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
Melenovská P et al.
Journal of Inherited Metabolic Disease, 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
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
Conformational properties of nine purified cystathionine β-synthase mutants.
Hnízda A et al.
Biochemistry, 2012
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
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
Cozar M et al.
Human Mutation, 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
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
Kozich V et al.
Human Mutation, 2010
Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.
Majtan T et al.
The Journal of Biological Chemistry, 2010
Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report.
Maillot F et al.
Journal of Medical Case Reports, 2008
The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.
Moat SJ et al.
Human Mutation, 2004
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
Gaustadnes M et al.
Human Mutation, 2002
Reproductive fitness in maternal homocystinuria due to cystathionine beta-synthase deficiency.
Levy HL et al.
Journal of Inherited Metabolic Disease, 2002
Cystathionine beta-synthase mutations in homocystinuria.
Kraus JP et al.
Human Mutation, 1999
Biochemistry and molecular genetics of cystathionine beta-synthase deficiency.
Kraus JP
European Journal of Pediatrics, 1998
Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.
De Franchis R et al.
European Journal of Pediatrics, 1998
Analysis of CBS alleles in Czech and Slovak patients with homocystinuria: report on three novel mutations E176K, W409X and 1223 + 37 del99.
Kozich V et al.
Journal of Inherited Metabolic Disease, 1997
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
Sebastio G et al.
American Journal of Human Genetics, 1995
Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.
Marble M et al.
Human Molecular Genetics, 1994
Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.
de Franchis R et al.
Human Molecular Genetics, 1994