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

1

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P R Smith

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W Taylor

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R Mustafi

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R L Switzer

Journal of Clinical Investigation

5

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language of work or name

English

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publication date

November 1995

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published in

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volume

96

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page(s)

2133-41

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issue

5

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cites work

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

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

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Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines

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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

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

28 September 2017

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Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase

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

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

28 September 2017

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Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes

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Synthesis of Phosphoribosylpyrophosphate in Mammalian Cells

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Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate

28 September 2017

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Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.

30 May 2018

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

30 May 2018

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

30 May 2018

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

30 May 2018

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

30 May 2018

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

30 May 2018

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Enzymatic synthesis and properties of 5-phosphoribosylpyrophosphate

30 May 2018

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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

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Hyperuricemia and neurologic deficits. A family study

28 November 2018

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12 December 2020

Altered kinetic property of erythrocyte phosphoribosylpsyrophosphate synthetase in excessive purine production

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12 December 2020

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

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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

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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

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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