Condition: Cystathionine beta-Synthase Deficiency Disease


rs1057516645 in CBS gene and Cystathionine beta-Synthase Deficiency Disease PMID 16307898 2006 Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

PMID 12007221 2002 High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.

PMID 12124992 2002 The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.

PMID 11013450 2000 Homocystinuria in the Arab population of Israel: identification of two novel mutations using DGGE analysis.

PMID 10215408 1998 Mutational analysis of the cystathionine beta-synthase gene: a splicing mutation, two missense mutations and an insertion in patients with homocystinuria. Mutations in brief no. 120. Online.

PMID 7611293 1995 A missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotype.

PMID 12815602 2003 Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.

PMID 8528202 1995 A yeast assay for functional detection of mutations in the human cystathionine beta-synthase gene.

PMID 7981678 1994 Identical genotypes in siblings with different homocystinuric phenotypes: identification of three mutations in cystathionine beta-synthase using an improved bacterial expression system.

PMID 16429402 2006 Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.

PMID 21240075 2011 CBS gene mutations found in a Chinese pyridoxine-responsive homocystinuria patient.

PMID 7849717 1994 Characterization of a cystathionine beta-synthase allele with three mutations in cis in a patient with B6 nonresponsive homocystinuria.

PMID 16205833 2005 Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.

PMID 10462600 1997 Two Novel Mutations in the Cystathionine beta-synthase Gene of Homocystinuric Patients.

PMID 25044645 2014 Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

PMID 15365998 2004 The cystathionine beta-synthase (CBS) mutation c.1224-2A>C in Central Europe: Vitamin B6 nonresponsiveness and a common ancestral haplotype.

PMID 14635102 2003 Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.

PMID 11553052 2001 Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.

PMID 23974653 2014 Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

PMID 15146473 2004 Identification and functional analysis of two novel mutations in the CBS gene in Polish patients with homocystinuria.

PMID 7635485 1995 Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients.

PMID 22738154 2012 Effect of the disease-causing R266K mutation on the heme and PLP environments of human cystathionine β-synthase.

PMID 20506325 2010 Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.

PMID 12552044 2003 Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency.

PMID 14722927 2004 The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

PMID 20298421 2010 EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias.

PMID 23733603 2013 Withdrawal of vitamin therapy was necessary before lower cystathionine, elevated methionine, and decreased cysteine became apparent, a pattern suggestive of CBS deficiency, leading to the finding that the affected members were each compound heterozygotes for CBS p.G307S and p.P49L.

PMID 9361025 1997 Functional modeling of vitamin responsiveness in yeast: a common pyridoxine-responsive cystathionine beta-synthase mutation in homocystinuria.

PMID 8744616 1996 Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.

PMID 7506602 1993 Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.

PMID 9889017 1998 Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.

PMID 7581402 1995 High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.

PMID 22267502 2012 Surrogate genetics and metabolic profiling for characterization of human disease alleles.

PMID 22069143 2012 Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.

PMID 20490928 2011 Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.

PMID 8353501 1993 Molecular defect in a patient with pyridoxine-responsive homocystinuria.

PMID 12686134 2003 Structural insights into mutations of cystathionine beta-synthase.

PMID 9587029 1998 Clinical aspects of cystathionine beta-synthase deficiency: how wide is the spectrum? The Italian Collaborative Study Group on Homocystinuria.

PMID 10408774 1999 Four novel mutations in the cystathionine beta-synthase gene: effect of a second linked mutation on the severity of the homocystinuric phenotype.

PMID 22612060 2012 Conformational properties of nine purified cystathionine β-synthase mutants.

PMID 9156316 1997 Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.

PMID 11359213 2001 Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

PMID 15192637 2004 Birth prevalence of homocystinuria.

PMID 9361025 1997 These studies show that the G797A mutation is an important cause of pyridoxine-responsive CBS deficiency and demonstrate the utility of yeast functional assays in the analysis of human mutations.

PMID 16619244 2006 Contrasting behaviors of mutant cystathionine beta-synthase enzymes associated with pyridoxine response.

PMID 28488385 2017 The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.

PMID 25331909 2015 Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.

PMID 12007221 2002 The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency.

PMID 24211323 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.

PMID 16479318 2006 The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.

PMID 21520339 2011 Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.

PMID 16470595 2006 High prevalence of CBS p.T191M mutation in homocystinuric patients from Colombia.

PMID 10338090 1999 Cystathionine beta-synthase mutations in homocystinuria.

PMID 18280597 2009 Vascular and connective tissue features in 5 Italian patients with homocystinuria.

PMID 25218699 2015 Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.

PMID 25197074 2014 Structural insight into the molecular mechanism of allosteric activation of human cystathionine β-synthase by S-adenosylmethionine.

PMID 12379655 2002 Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.

PMID 22382802 2012 Exon-level array CGH in a large clinical cohort demonstrates increased sensitivity of diagnostic testing for Mendelian disorders.

PMID 8755636 1996 Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.

PMID 12269827 2002 Alleviation of intrasteric inhibition by the pathogenic activation domain mutation, D444N, in human cystathionine beta-synthase.

PMID 18805305 2008 [Stroke and iridodonesis revealing a homocystinuria caused by a compound heterozygous mutation of cystathionine beta-synthase].

PMID 14972327 2004 Characterization of cystathionine beta-synthase gene mutations in homocystinuric Venezuelan patients: identification of one novel mutation in exon 6.

PMID 16245937 2005 Mapping peptides correlated with transmission of intrasteric inhibition and allosteric activation in human cystathionine beta-synthase.

PMID 12007221 2002 The P422L and S466L mutations were found in patients suffering premature thrombosis and homocystinuric levels of Hcy but lacking any of the connective tissue disorders typical of homocystinuria due to CBS deficiency.

PMID 15146473 2004 We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T).

PMID 10364517 1999 The molecular basis of cystathionine beta-synthase deficiency in Dutch patients with homocystinuria: effect of CBS genotype on biochemical and clinical phenotype and on response to treatment.

PMID 21030686 2010 Increased homocysteine in a patient diagnosed with Marfan syndrome.

PMID 9232191 1997 Identification of a splice site mutation in the cystathionine beta-synthase gene resulting in variable and novel splicing defects of pre-mRNA.

PMID 20567906 2011 Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

PMID 1301198 1992 Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency.

PMID 7967489 1994 Komrower Lecture. Molecular basis of phenotype expression in homocystinuria.

PMID 16786517 2006 A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population.

PMID 20455263 2010 Testing computational prediction of missense mutation phenotypes: functional characterization of 204 mutations of human cystathionine beta synthase.

PMID 21517828 2012 Clinical and molecular findings of 13 families from Saudi Arabia and a family from Sudan with homocystinuria.

PMID 19370759 2009 Molecular neonatal screening for homocystinuria in the Qatari population.

PMID 6711564 1984 Homocystinuria: biogenesis of cystathionine beta-synthase subunits in cultured fibroblasts and in an in vitro translation system programmed with fibroblast messenger RNA.

PMID 10328723 1999 Prevalence of congenital homocystinuria in Denmark.

PMID 8940271 1996 High prevalence of a mutation in the cystathionine beta-synthase gene.

PMID 10807759 2000 Because a reduction of the severely elevated levels of tHcy in CBS deficiency reduces cardiovascular risk and because homozygosity for the 833T-->C mutation is more prevalent than previously thought, our results emphasize the importance of measuring tHcy routinely in thrombophilia screening.

PMID 23592311 2013 Correction of cystathionine β-synthase deficiency in mice by treatment with proteasome inhibitors.

PMID 15146473 2004 We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T).

PMID 19819175 2010 A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency.

PMID 20694756 2010 Abstracts of the Annual Symposium of the Society for the Study of Inborn Errors of Metabolism. Istanbul, Turkey. August 31-September 3, 2010.

PMID 15146473 2004 We examined 10 independent alleles in Polish patients suffering from CBS deficiency, and we detected four already described mutations (c.1224-2A>C, c.684C>A, c.833T>C, and c.442G>A) and two novel mutations (c.429C>G and c.1039+1G>T).

PMID 22977242 2012 Allosteric communication between the pyridoxal 5'-phosphate (PLP) and heme sites in the H2S generator human cystathionine β-synthase.

PMID 7762555 1995 The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.

PMID 8803779 1996 Homocysteine response to methionine challenge in four obligate heterozygotes for homocystinuria and relationship with cystathionine beta-synthase mutations.

PMID 12828591 2003 Limited effectiveness of betaine therapy for cystathionine beta synthase deficiency.

PMID 10687314 1999 Molecular genetic analysis of pyridoxine-nonresponsive homocystinuric siblings with different blood methionine levels during the neonatal period.

PMID 9870207 1998 Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.

PMID 24613005 2014 [Pulmonary embolism in young adults. Think of homocysteine].

PMID 26464485 2015 Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

PMID 17069888 2006 Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase.

PMID 9590298 1998 Correction of disease-causing CBS mutations in yeast.

PMID 20066033 2010 Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70.

PMID 19914636 2010 Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards.

PMID 20871414 2010 Acute liver failure and reversible leukoencephalopathy in a pediatric patient with homocystinuria.

PMID 29326875 2018 Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.

PMID 27959664 2016 Case 34-2016. A 17-Year-Old Boy with Myopia and Craniofacial and Skeletal Abnormalities.

PMID 18423051 2008 Environmental influences on familial discordance of phenotype in people with homocystinuria: a case report.

PMID 11343305 2001 Disposition of homocysteine in subjects heterozygous for homocystinuria due to cystathionine beta-synthase deficiency: relationship between genotype and phenotype.

PMID 17352495 2007 A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.

PMID 22985361 2013 Human cystathionine β-synthase (CBS) contains two classes of binding sites for S-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM.

PMID 20308073 2010 Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.

PMID 24138954 2014 Cystathionine beta-synthase deficiency heralded by cerebral sinus venous thrombosis and stroke.

PMID 17327360 2007 Mutations in methylenetetrahydrofolate reductase or cystathionine beta-synthase gene, or a high-methionine diet, increase homocysteine thiolactone levels in humans and mice.

PMID 20821054 2011 Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.