Defective cystathionine beta-synthase regulation by S-adenosylmethionine in a partially pyridoxine responsive homocystinuria patient. (Q37357375)

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18 October 2019

title

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

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18 October 2019

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8

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18 October 2019

author name string

Kluijtmans LA

1

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18 October 2019

Boers GH

2

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18 October 2019

Stevens EM

3

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18 October 2019

Renier WO

4

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18 October 2019

Kraus JP

5

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18 October 2019

Trijbels FJ

6

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18 October 2019

van den Heuvel LP

7

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18 October 2019

language of work or name

English

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publication date

1 July 1996

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Journal of Clinical Investigation

18 October 2019

published in

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18 October 2019

volume

98

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18 October 2019

issue

2

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18 October 2019

page(s)

285-289

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Protein measurement with the Folin phenol reagent

18 October 2019

cites work

1 reference

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A yeast system for expression of human cystathionine beta-synthase: structural and functional conservation of the human and yeast genes

6 September 2017

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

6 September 2017

1 reference

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Komrower Lecture. Molecular basis of phenotype expression in homocystinuria

6 September 2017

1 reference

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Human cystathionine beta-synthase cDNA: sequence, alternative splicing and expression in cultured cells

6 September 2017

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Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia

6 September 2017

1 reference

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

6 September 2017

1 reference

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

6 September 2017

1 reference

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Two novel missense mutations in the cystathionine beta-synthase gene in homocystinuric patients

6 September 2017

1 reference

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

6 September 2017

1 reference

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Unique efficiency of methionine metabolism in premenopausal women may protect against vascular disease in the reproductive years

6 September 2017

1 reference

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Homocystinuria: Studies in Tissue Culture

6 September 2017

1 reference

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

6 September 2017

1 reference

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A simple salting out procedure for extracting DNA from human nucleated cells

6 September 2017

1 reference

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DNA sequences of the cysK regions of Salmonella typhimurium and Escherichia coli and linkage of the cysK regions to ptsH.

6 September 2017

1 reference

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The gene for cystathionine beta-synthase (CBS) maps to the subtelomeric region on human chromosome 21q and to proximal mouse chromosome 17

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

The pathogenesis of homocysteinemia: interruption of the coordinate regulation by S-adenosylmethionine of the remethylation and transsulfuration of homocysteine

6 September 2017

1 reference

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

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507429

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

6 September 2017

1 reference

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Rat cystathionine beta-synthase. Gene organization and alternative splicing

26 June 2018

1 reference

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Rat cystathionine beta-synthase: expression of four alternatively spliced isoforms in transfected cultured cells

26 June 2018

1 reference

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Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations.

26 June 2018

1 reference

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Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease

2 September 2018

1 reference

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Three different methods for the determination of total homocysteine in plasma

2 September 2018

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12 December 2020

Mutated methylenetetrahydrofolate reductase as a risk factor for spina bifida

1 reference

12 December 2020

Activation of cystathionine synthase by adenosylmethionine and adenosylethionine

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12 December 2020

Methylenetetrahydrofolate reductase in cultured human cells. I. Growtha and metabolic studies

1 reference

12 December 2020

Homocystinuria: studies on cystathionine beta-synthase, S-adenosylmethionine synthetase and cystathionase activities in skin fibroblasts

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI118791

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755636%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:8755636%20AND%20SRC:MED&resulttype=core&format=json

18 October 2019

PubMed publication ID

8755636

1 reference