Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency
about
sameAs
A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genesA missense mutation (I278T) in the cystathionine beta-synthase gene prevalent in pyridoxine-responsive homocystinuria and associated with mild clinical phenotypeThe molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutationsCystathionine beta-synthase T833C/844INS68 polymorphism: a family-based study on mentally retarded children.Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.Rescue of cystathionine beta-synthase (CBS) mutants with chemical chaperones: purification and characterization of eight CBS mutant enzymes.Correlation between cystathionine β-synthase T883C genetic polymorphism and primary hypertension.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.High homocysteine and thrombosis without connective tissue disorders are associated with a novel class of cystathionine beta-synthase (CBS) mutations.A multilocus genotyping assay for candidate markers of cardiovascular disease riskCystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.Chemical chaperone rescue of mutant human cystathionine beta-synthaseNovel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.Diversity of cystathionine beta-synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversionDefective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient.Birth prevalence of homocystinuria in Central Europe: frequency and pathogenicity of mutation c.1105C>T (p.R369C) in the cystathionine beta-synthase geneRestoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coli.Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.Surrogate genetics and metabolic profiling for characterization of human disease alleles.Cross-talk between the catalytic core and the regulatory domain in cystathionine β-synthase: study by differential covalent labeling and computational modeling.Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.Cystathionine beta-synthase is coordinately regulated with proliferation through a redox-sensitive mechanism in cultured human cells and Saccharomyces cerevisiae.The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.Deletion mutagenesis of human cystathionine beta-synthase. Impact on activity, oligomeric status, and S-adenosylmethionine regulation.Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.The c.797 G>A (p.R266K) cystathionine β-synthase mutation causes homocystinuria by affecting protein stability.Homocystinuria due to cystathionine beta-synthase (CBS) deficiency in Russia: Molecular and clinical characterization.Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.A Multilocus Genotyping Assay for Cardiovascular Disease
P2860
Q24561605-81782428-4194-4BEC-8C72-9A7AB1EE3B50Q24672659-D07933FF-F987-42D6-9B5D-C8DCEDA021C5Q24673176-987E0F2F-2AF5-4779-B2C6-E2CB47AB3ACFQ25257376-180338B2-458C-41AA-B85A-3895E38F591BQ28365393-3182F5FB-0639-4532-BF6E-E887E5256B2FQ33855124-B153F715-4726-48C7-80E0-AC2DD3F14F2BQ33962662-00D12456-7975-43ED-853B-D1C32F8956CEQ34390750-DBE4B355-01B7-4843-8694-D9BA7A19AAC3Q34523117-82FEB147-7185-4BBB-A232-FD14DFE0A2BCQ35024990-CD53A749-A029-4A85-932B-BE546F869879Q35871863-F2231007-1531-47E1-BC73-9960D97D6F6FQ36088268-C8AF6431-C192-4D20-99BA-EE661C2E8618Q36369812-363F0305-2EBC-4251-9DA6-50AEEBC65C30Q37071388-911FC7CE-122A-4378-AC42-AF8BAD95B5AEQ37357375-3FD33C50-0044-4217-8455-CC0AB3D2C915Q41768656-E46F183E-A88D-42A4-8EC4-34A9DAA99BB3Q41995821-578F2002-B270-42E6-835E-82864F3576BEQ42182765-1F2F6162-32CC-44C9-9B01-AAA22370AFE7Q42392887-7CAD4C06-88DD-47AD-B449-9EBEDA1C6A69Q42561293-BE9D7E36-67A5-4A55-95C7-1B233C683A1EQ42826852-8EC436FD-F427-4C51-AFB0-09EC92C20770Q43844279-7140DB72-B651-476C-A5C4-8DB910699BD8Q44062730-730BE60E-266F-4D57-A89F-261EECA56076Q44069015-F92BD43B-58C9-40A0-B1C7-66FE54F6A1DAQ44179264-6F1E2841-33D5-4FFB-834E-F2904BEB5AC3Q45730250-BE6EBF60-1869-4B3B-9C89-15C690670F4BQ48030087-90FFDEDE-8C6A-433C-B47F-0C57C53F2BD6Q48166084-CC381F00-5E52-4A09-ADAF-D63F834EBF19Q49497295-E80BADD5-BA00-4E4D-9ED5-BC1F26B4E024Q50539015-AE61D5BE-EB77-4CED-B4CC-686A918B9CEFQ57996196-58C15C24-773B-4BEF-AAD0-195269C04C4B
P2860
Screening for mutations by expressing patient cDNA segments in E. coli: homocystinuria due to cystathionine beta-synthase deficiency
description
1992 nî lūn-bûn
@nan
1992 թուականին հրատարակուած գիտական յօդուած
@hyw
1992 թվականին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
Screening for mutations by exp ...... onine beta-synthase deficiency
@ast
Screening for mutations by exp ...... onine beta-synthase deficiency
@en
Screening for mutations by exp ...... onine beta-synthase deficiency
@nl
type
label
Screening for mutations by exp ...... onine beta-synthase deficiency
@ast
Screening for mutations by exp ...... onine beta-synthase deficiency
@en
Screening for mutations by exp ...... onine beta-synthase deficiency
@nl
prefLabel
Screening for mutations by exp ...... onine beta-synthase deficiency
@ast
Screening for mutations by exp ...... onine beta-synthase deficiency
@en
Screening for mutations by exp ...... onine beta-synthase deficiency
@nl
P2860
P356
P1433
P1476
Screening for mutations by exp ...... onine beta-synthase deficiency
@en
P2093
P2860
P304
P356
10.1002/HUMU.1380010206
P407
P577
1992-01-01T00:00:00Z