Homocystinuria. Evidence for three distinct classes of cystathionine beta-synthase mutants in cultured fibroblasts (Q34709345)

4 August 2017

title

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

1 reference

4 August 2017

1 reference

B. Fowler

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

17 July 2022

J. Kraus

series ordinal

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

17 July 2022

S. Packman

series ordinal

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

17 July 2022

L. E. Rosenberg

series ordinal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

17 July 2022

language of work or name

English

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publication date

1 March 1978

1 reference

full work available at URL

4 August 2017

https://europepmc.org/articles/PMC372577

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

https://europepmc.org/articles/PMC372577?pdf=render

17 July 2022

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A641146

Journal of Clinical Investigation

17 July 2022

published in

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4 August 2017

volume

61

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4 August 2017

issue

3

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4 August 2017

page(s)

645-653

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Protein measurement with the Folin phenol reagent

4 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

HOMOCYSTINURIA: AN ENZYMATIC DEFECT.

7 July 2018

1 reference

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Metabolic Abnormalities Detected in a Survey of Mentally Backward Individuals in Northern Ireland

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

The identification of homocystine in the urine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Cystathionine synthase in tissue culture derived from human skin: enzyme defect in homocystinuria

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Homocystinuria due to cystathionine synthase deficiency: the effect of pyridoxine

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Cystathionine synthase activity in human lymphocytes: induction by phytohemagglutinin

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Analogs of pyridoxal or pyridoxal phosphate: relation of structure to binding with apoenzymes and to catalytic activity

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Amino acid metabolism and its disorders.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Homocystinuria: Studies in Tissue Culture

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

On the Mechanism of Pyridoxine Responsive Homocystinuria. II. Properties of Normal and Mutant Cystathionine β-Synthase from Cultured Fibroblasts

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Characterization of human cystathionine beta-synthase. Evidence for the identity of human L-serine dehydratase and cystathionine beta-synthase

7 July 2018

1 reference

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Cystathionine beta-synthase deficiency: a qualitative abnormality of the deficient enzyme modified by vitamin B6 therapy

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=372577

Stability of some Pyridoxal Phosphate-dependent Enzymes in Vitamin B-6 Deficient Rats

7 July 2018

1 reference

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Transsulfuration in mammals. Microassays and tissue distributions of three enzymes of the pathway

7 July 2018

1 reference

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Studies on the sulfhydryl groups of L-aspartate beta-decarboxylase

26 October 2018

1 reference

12 December 2020

A comparison of the proteolytic susceptibility of several rat liver enzymes

1 reference

12 December 2020

Studies of the mechanism of pyridoxine-responsive homocystinuria

1 reference

12 December 2020

Studies on Cystathionine Synthetase Characteristics of Purified Rat Liver Enzyme

1 reference

12 December 2020

The effects of various vitamin B6 5'-phosphate derivatives on the structure and activities of L-aspartate beta-decarboxylase

1 reference

12 December 2020

Studies on the role of vitamin B6 derivatives in regulating tyrosine alpha-ketoglutarate transaminase activity in vitro and in vivo

1 reference

12 December 2020

Production of apoenzymes of serine sulfhydrase and cystathionine-beta-synthase and their interaction with pyridoxal-5'-phosphate and its analogs

1 reference

12 December 2020

Studies on cystathionine synthase of rat liver properties of the highly purified enzyme

1 reference

12 December 2020

Inactivation of cystathionase and of cysteine sulfinic acid decarboxylase by proteolytic enzymes: Effect of pyridoxal phosphate

1 reference

12 December 2020

The successful treatment of homocystinuria with pyridoxine

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI108976

1 reference

4 August 2017

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4 August 2017

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