The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity (Q24677912)

1

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1 June 2024

P. R. Smith

2

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1 June 2024

W. Taylor

3

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1 June 2024

R. Mustafi

4

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1 June 2024

R. L. Switzer

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full work available at URL

1 June 2024

language of work or name

English

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publication date

November 1995

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http://www.jci.org/articles/view/118267/files/pdf

file format

Portable Document Format

online access status

open access

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7593598

https://europepmc.org/articles/PMC185862

1 June 2024

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7593598

https://europepmc.org/articles/PMC185862?pdf=render

1 June 2024

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%3A7593598

http://www.jci.org/articles/view/118267/files/pdf

1 June 2024

1 reference

https://api.crossref.org/works/10.1172/JCI118267

Journal of Clinical Investigation

1 June 2024

published in

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volume

96

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issue

5

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page(s)

2133-41

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cites work

Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene

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Molecular cloning and sequencing of human cDNA for phosphoribosyl pyrophosphate synthetase subunit II

7 April 2017

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Identification of 17 independent mutations responsible for human hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency

7 April 2017

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High resolution two-dimensional electrophoresis of proteins

7 April 2017

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

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

7 April 2017

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7 April 2017

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Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

28 September 2017

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Use of T7 RNA polymerase to direct expression of cloned genes

7 April 2017

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Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties

7 April 2017

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Human phosphoribosylpyrophosphate synthetase. Kinetic mechanism and end product inhibition

7 April 2017

1 reference

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Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Expression of rat phosphoribosylpyrophosphate synthetase subunits I and II in Escherichia coli. Isolation and characterization of the recombinant isoforms

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

A bacteriophage T7 RNA polymerase/promoter system for controlled exclusive expression of specific genes

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Potent and specific inhibitors of mammalian phosphoribosylpyrophosphate (PRPP) synthetase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Phosphoribosylpyrophosphate synthetase anomalies in 2 cases of gout beginning at an early age

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Synthesis of Phosphoribosylpyrophosphate in Mammalian Cells

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

An inborn error of purine metabolism, deafness and neurodevelopmental abnormality.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=185862

Hyperuricemia and neurologic deficits. A family study

28 November 2018

1 reference

12 December 2020

Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production

1 reference

12 December 2020

A gouty family with increased phosphoribosylpyrophosphate synthetase activity: case reports, familial studies, and kinetic studies of the abnormal enzyme

1 reference

12 December 2020

Altered isoelectric property of a superactive 5-phosphoribosyl-1-pyrophosphate (PRPP) synthetase in a patient with clinical gout

1 reference

12 December 2020

Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate

1 reference

12 December 2020

5-Phosphoribosyl 1-pyrophosphate synthetase converts the acyclic nucleoside phosphonates 9-(3-hydroxy-2-phosphonylmethoxypropyl)adenine and 9-(2-phosphonylmethoxyethyl)adenine directly to their antivirally active diphosphate derivatives

1 reference

12 December 2020

Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms

1 reference

12 December 2020

Overexpression, purification, and characterization of recombinant human 5-phosphoribosyl-1-pyrophosphate synthetase isozymes I and II

1 reference

12 December 2020

Identification of amino-acid residues linked to different properties of phosphoribosylpyrophosphate synthetase isoforms I and II

1 reference

12 December 2020

Inhibition of human 5-phosphoribosyl-1-pyrophosphate synthetase by 4-amino-8-(beta-D-ribofuranosylamino)-pyrimido[5,4-d]pyrimidine-5'- monophosphate: evidence for interaction at the ADP allosteric site

1 reference

12 December 2020

Identifiers

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