(Q37019295)

17 August 2017

Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions (English)

1 reference

17 August 2017

M. A. Becker

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

5 September 2023

K. O. Raivio

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

5 September 2023

B. Bakay

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

5 September 2023

W. B. Adams

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

5 September 2023

W. L. Nyhan

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

5 September 2023

language of work or name

English

0 references

publication date

1 January 1980

1 reference

PMC publication ID

371345

full work available at URL

17 August 2017

https://europepmc.org/articles/PMC371345

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

https://europepmc.org/articles/PMC371345?pdf=render

5 September 2023

file format

Portable Document Format

online access status

open access

content deliverer

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A6243137

http://www.jci.org/articles/view/109640/files/pdf

5 September 2023

1 reference

https://api.crossref.org/works/10.1172/JCI109640

Journal of Clinical Investigation

5 September 2023

published in

1 reference

17 August 2017

65

1 reference

17 August 2017

1

1 reference

17 August 2017

109-120

1 reference

EFFECT OF AGE ON THE ENZYME ACTIVITY IN ERYTHROCYTES.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Protein measurement with the Folin phenol reagent

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Gene action in the X-chromosome of the mouse (Mus musculus L.)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Variations in purine metabolism of cultured skin fibroblasts from patients with gout

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Mechanism of allopurinol-mediated increase in enzyme activity in man.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency in Gout

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Phosphoribosylpyrophosphate in man: biochemical and clinical significance

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

A specific enzyme defect in gout associated with overproduction of uric acid

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human erythrocyte phosphoribosylpyrophosphate synthetase. Dependence of activity on state of subunit association

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human erythrocyte phosphoribosylpyrophosphate synthetase. Subunit analysis and states of subunit association

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

X-Linked Pattern of Inheritance of Gout Due to Mutant Feedback-Resistant Phosphoribosylpyrophosphate Synthetase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Phosphoribosylpyrophosphate Synthetase Is Elevated in Fibroblasts from Patients with the Lesch-Nyhan Syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Patterns of phosphoribosylpyrophosphate and ribose-5-phosphate concentration and generation in fibroblasts from patients with gout and purine overproduction

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

A new disorder of purine metabolism with behavioral manifestations.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Biochemical Bases of Accelerated Purine Biosynthesis de Novo in Human Fibroblasts Lacking Hypoxanthine-Guanine Phosphoribosyltransferase

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Multiple mechanisms of regulation of purine biosynthesis de novo in intact tumor cells.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Evaluation of the role of 5-phosphoribosyl-alpha-1-pyrophosphate synthetase in congenital hyperuricemia and gout: a simple isotopic assay and an activity stain for the enzyme.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Stability and regulation of phosphoribosyl pyrophosphate synthetase from rat liver.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Purification and properties of phosphoribosyl pyrophosphate synthetase from rat liver

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Regulation and mechanism of phosphoribosylpyrophosphate synthetase. V. Inhibition by end products and regulation by adenosine diphosphate.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Effects of nicotinic acid on human fibroblast purine biosynthesis

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Regulation of the synthesis of 5-phosphoribosyl-I-pyrophosphate in intact red blood cells and in cell-free preparations.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Regulation and mechanism of phosphoribosylpyrophosphate synthetase. I. Purification and properties of the enzyme from Salmonella typhimurium.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Studies on the adenine phosphoribosyltransferase enzyme in human fibroblasts lacking hypoxanthine-guanine phosphoribosyltransferase

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

AVAILABILITY OF 5-PHOSPHORIBOSYL 1-PYROPHOSPHATE FOR RIBONUCLEOTIDE SYNTHESIS IN EHRLICH ASCITES TUMOR CELLS IN VITRO

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Regulation and mechanism of phosphoribosylpyrophosphate synthetase. 3. Kinetic studies of the reaction mechanism.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=371345

Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity

4 September 2018

1 reference

12 December 2020

Elevated AMP pyrophosphorylase activity in congenital IMP pyrophosphorylase deficiencey (Lesch-Nyhan disease)

1 reference

12 December 2020

Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout

1 reference

12 December 2020

Feedback inhibition of purine biosynthesis in ascites tumor cells

1 reference

12 December 2020

DETERMINATION OF DENSITY DISTRIBUTION OF RED CELL POPULATION

1 reference

12 December 2020

Adenine, hypoxanthine and guanine metabolism in fibroblasts from normal individuals and from patients with hypoxanthine phosphoribosyltransferase deficiency

1 reference

12 December 2020

5-Phosphoribosyl pyrophosphate synthetase from Ehrlich ascites tumor cells

1 reference

12 December 2020

Studies on hypoxanthine-guanine phosphoribosyltransferase in fibroblasts from patients with the Lesch-Nyhan syndrome. Evidence for genetic heterogeneity

1 reference

12 December 2020

Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production

1 reference

12 December 2020

Identifiers

DOI

10.1172/JCI109640

1 reference

17 August 2017

1 reference

PMC publication ID

371345

17 August 2017

1 reference

PMC publication ID

371345