(Q50539015)

15 March 2018

title

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

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15 March 2018

author

Roser Urreizti

2

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15 March 2018

Susana Balcells

11

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15 March 2018

Daniel Grinberg

10

object named as

Daniel Grinberg

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15 March 2018

author name string

Mónica Cozar

1

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15 March 2018

Laura Vilarinho

3

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15 March 2018

Carola Grosso

4

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15 March 2018

Raquel Dodelson de Kremer

5

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15 March 2018

Carla G Asteggiano

6

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15 March 2018

Jaime Dalmau

7

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15 March 2018

Ana María García

8

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15 March 2018

María Antonia Vilaseca

9

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15 March 2018

publication date

7 June 2011

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15 March 2018

published in

Human Mutation

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15 March 2018

volume

32

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15 March 2018

issue

7

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15 March 2018

page(s)

835-842

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15 March 2018

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

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1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

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

21 January 2018

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Clinical and mutational characterization of three patients with multiple sulfatase deficiency: report of a new splicing mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

A common mutation in the CBS gene explains a high incidence of homocystinuria in the Qatari population

21 January 2018

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https://api.crossref.org/works/10.1002%2FHUMU.21514

A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

High frequency (71%) of cystathionine β-synthase mutation G307S in Irish homocystinuria patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Prevalence of congenital homocystinuria in Denmark.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Pyridoxal phosphate binding sites are similar in human heme-dependent and yeast heme-independent cystathionine beta-synthases. Evidence from 31P NMR and pulsed EPR spectroscopy that heme and PLP cofactors are not proximal in the human enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Cystathionine beta-synthase mutations in homocystinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Vascular presentation of cystathionine beta-synthase deficiency in adulthood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

SR proteins and the nonsense-mediated decay mechanism are involved in human GLB1 gene alternative splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Correction of disease-causing CBS mutations in yeast

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Chemical chaperone rescue of mutant human cystathionine beta-synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

A revisit to the natural history of homocystinuria due to cystathionine beta-synthase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

The natural history of vascular disease in homocystinuria and the effects of treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Vascular outcome in patients with homocystinuria due to cystathionine beta-synthase deficiency treated chronically: a multicenter observational study

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

Homocystinuria due to cystathionine beta-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

An adult with a non-neuronopathic form of Niemann-Pick C disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

Binding of pyridoxal 5'-phosphate to the heme protein human cystathionine beta-synthase

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

Cystathionine beta-synthase (human)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

Strategies for the treatment of cystathionine beta-synthase deficiency: the experience of the Willink Biochemical Genetics Unit over the past 30 years

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21514

7 January 2021

Identifiers

DOI

10.1002/HUMU.21514

1 reference

15 March 2018

1 reference

15 March 2018