Expression study of mutant cystathionine beta-synthase found in Japanese patients with homocystinuria. (Q54474716)

30 May 2018

title

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

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Fumio Katsushima

1

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Jana Oliveriusova

2

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Osamu Sakamoto

3

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Toshihiro Ohura

4

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Yoshiaki Kondo

5

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Kazuie Iinuma

6

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Eva Kraus

7

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Renata Stouracova

8

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Jan P Kraus

9

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publication date

22 November 2005

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Molecular Genetics and Metabolism

published in

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volume

87

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issue

4

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page(s)

323-328

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Prevalence of congenital homocystinuria in Denmark.

cites work

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Cystathionine beta-synthase deficiency in Central Europe: discrepancy between biochemical and molecular genetic screening for homocystinuric alleles.

7 January 2021

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Regulation of human cystathionine beta-synthase by S-adenosyl-L-methionine: evidence for two catalytically active conformations involving an autoinhibitory domain in the C-terminal region

7 January 2021

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

7 January 2021

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Trypsin cleavage of human cystathionine beta-synthase into an evolutionarily conserved active core: structural and functional consequences

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

Molecular basis of phenotype expression in homocystinuria

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

Cystathionine beta-synthase mutations in homocystinuria

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

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.

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

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

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

Cystathionine beta-synthase (human)

7 January 2021

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https://api.crossref.org/works/10.1016%2FJ.YMGME.2005.09.013

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

7 January 2021

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10.1016/J.YMGME.2005.09.013

7 January 2021

Identifiers

DOI

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30 May 2018

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30 May 2018