(Q45730250)

English

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

scientific article published on 23 August 2013

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scholarly article

1 reference

Europe PubMed Central

15 December 2017

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

1 reference

Europe PubMed Central

15 December 2017

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based on heuristic

inferred from title

Isabel Tavares de Almeida

7

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Europe PubMed Central

15 December 2017

10

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Europe PubMed Central

15 December 2017

13

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Europe PubMed Central

15 December 2017

Henrique G Colaço

object named as

Henrique G Colaço

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object named as

Paula Leandro

12

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author name string

Marisa I S Mendes

1

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Europe PubMed Central

15 December 2017

Desirée E C Smith

3

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Europe PubMed Central

15 December 2017

Rúben J J F Ramos

4

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Europe PubMed Central

15 December 2017

Ana Pop

5

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Europe PubMed Central

15 December 2017

Silvy J M van Dooren

6

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Europe PubMed Central

15 December 2017

Leo A J Kluijtmans

8

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Europe PubMed Central

15 December 2017

Mirian C H Janssen

9

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Europe PubMed Central

15 December 2017

Gajja S Salomons

11

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Europe PubMed Central

15 December 2017

publication date

23 August 2013

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Europe PubMed Central

15 December 2017

Journal of Inherited Metabolic Disease

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Europe PubMed Central

15 December 2017

37

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Europe PubMed Central

15 December 2017

2

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245-254

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Europe PubMed Central

15 December 2017

https://scigraph.springernature.com/pub.10.1007/s10545-013-9647-6

0 references

Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

The structure of a domain common to archaebacteria and the homocystinuria disease protein

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Kinetic characterization of recombinant human cystathionine beta-synthase purified from E. coli

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Expression of human cystathionine beta-synthase in Escherichia coli: purification and characterization.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Purification and characterization of the wild type and truncated human cystathionine beta-synthase enzymes expressed in E. coli.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Detection of a novel deletion in the cystathionine beta-synthase (CBS) gene using an improved genomic DNA based method.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Conformational properties of nine purified cystathionine β-synthase mutants

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

CBS domains: structure, function, and pathology in human proteins

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Crystallization and preliminary X-ray diffraction analysis of the active core of human recombinant cystathionine beta-synthase: an enzyme involved in vascular disease

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

The human cystathionine beta-synthase (CBS) gene: complete sequence, alternative splicing, and polymorphisms.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Folding and activity of mutant cystathionine β-synthase depends on the position and nature of the purification tag: characterization of the R266K CBS mutant

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Active cystathionine beta-synthase can be expressed in heme-free systems in the presence of metal-substituted porphyrins or a chemical chaperone

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Structure of human cystathionine beta-synthase: a unique pyridoxal 5'-phosphate-dependent heme protein

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Newborn screening for homocystinuria: Irish and world experience

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Correction of disease-causing CBS mutations in yeast

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Mutations in the regulatory domain of cystathionine beta synthase can functionally suppress patient-derived mutations in cis.

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Activation of mutant enzyme function in vivo by proteasome inhibitors and treatments that induce Hsp70

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Pre-steady-state kinetic analysis of enzyme-monitored turnover during cystathionine β-synthase-catalyzed H(2)S generation

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Measurement of protein using bicinchoninic acid

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Human cystathionine beta-synthase is a heme sensor protein. Evidence that the redox sensor is heme and not the vicinal cysteines in the CXXC motif seen in the crystal structure of the truncated enzyme

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

Structural insights into pathogenic mutations in heme-dependent cystathionine-beta-synthase

1 reference

https://api.crossref.org/works/10.1007%2FS10545-013-9647-6

21 January 2018

The natural history of homocystinuria due to cystathionine beta-synthase deficiency.

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Follow-up study of a nation-wide neonatal metabolic screening program in Japan. A collaborative study group of neonatal screening for inborn errors of metabolism in Japan

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A liquid chromatography mass spectrometry method for the measurement of cystathionine β-synthase activity in cell extracts

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Promotion of cyst(e)ine uptake

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular neonatal screening for homocystinuria in the Qatari population

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Transsulfuration depends on heme in addition to pyridoxal 5'-phosphate. Cystathionine beta-synthase is a heme protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/23974653

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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10.1007/S10545-013-9647-6

1 reference

Europe PubMed Central

15 December 2017

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1 reference

Europe PubMed Central

15 December 2017

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