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Academic Article
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Human phosphoribosylpyrophosphate synthetase (PRS) 2: an independent active, X chromosome-linked PRS isoform.
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Academic Article
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Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.
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Academic Article
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PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
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Academic Article
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Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
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Academic Article
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Neurodevelopmental impairment and deranged PRPP and purine nucleotide synthesis in inherited superactivity of PRPP synthetase.
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Academic Article
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Point mutations in PRPS1, the gene encoding the PRPP synthetase (PRS) 1 isoform, underlie X-linked PRS superactivity associated with purine nucleotide inhibitor-resistance.
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Academic Article
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The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
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Academic Article
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Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.
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Academic Article
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Phosphoribosylpyrophosphate synthetase and the regulation of phosphoribosylpyrophosphate production in human cells.
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Academic Article
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Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
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Academic Article
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Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.
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Academic Article
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Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.
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Academic Article
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Cell type-specific differential expression of human PRPP synthetase (PRPS) genes.
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Academic Article
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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.
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Academic Article
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Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosylpyrophosphate synthetase superactivity.
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Academic Article
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Human phosphoribosylpyrophosphate synthetase: radioimmunochemical quantitation in erythrocytes and fibroblasts.
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Academic Article
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Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases.
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Academic Article
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Increased PP-ribose-P synthetase activity: a genetic abnormality leading to excessive purine production and gout.
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Academic Article
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Human erythrocyte phosphoribosylpyrophosphate synthetase. Dependence of activity on state of subunit association.
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Academic Article
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Regional localization of the gene for human phosphoribosylpyrophosphate synthetase on the X chromosome.
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Academic Article
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Selective expression of phosphoribosylpyrophosphate synthetase superactivity in human lymphoblast lines.
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Academic Article
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Superactive phosphoribosylpyrophosphate synthetase with altered regulatory and catalytic properties.
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Academic Article
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Increased purine nucleotide degradation in the central nervous system (CNS) in PRPP synthetase superactivity.
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Academic Article
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PRPP synthetase superactivity in lymphoblast lines.
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Academic Article
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Inherited phosphoribosylpyrophosphate synthetase superactivity due to aberrant inhibitor and activator responsiveness.
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Academic Article
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Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
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Academic Article
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Human erythrocyte phosphoribosylpyrophosphate synthetase. Subunit analysis and states of subunit association.
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Academic Article
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Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.
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Academic Article
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Determination of the activity of recombinant human phosphoribosylpyrophosphate synthetase isoform 1 by a non-isotopic, one-step method.
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Academic Article
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Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.
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Academic Article
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Overexpression, purification, and characterization of recombinant human 5-phosphoribosyl-1-pyrophosphate synthetase isozymes I and II.
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Academic Article
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Determination of phosphoribosylpyrophosphate synthetase activity in human cells by a non-isotopic, one step method.
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Academic Article
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Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.
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Academic Article
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Human phosphoribosylpyrophosphate (PRPP) synthetase requirements for subunit aggregation.
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Academic Article
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Phosphoribosylpyrophosphate synthetase superactivity: detection, characterization of underlying defects, and treatment.
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Academic Article
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Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.
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Academic Article
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Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme.
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Academic Article
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Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.
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Academic Article
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Methylmercaptopurine ribonucleoside toxicity in human fibroblasts: inhibition of phosphoribosylpyrophosphate synthetase as well as amidophosphoribosyltransferase.
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Academic Article
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Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.
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Academic Article
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Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate.
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Academic Article
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A simplified method for the determination of phosphoribosylpyrophosphate synthetase activity in hemolysates.
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Academic Article
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Radioimmunoassay studies of human phosphoribosylpyrophosphate synthetase.
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Academic Article
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Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates.
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Academic Article
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Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.
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Academic Article
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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.
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Academic Article
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Human phosphoribosylpyrophosphate synthetase: relation of activity and quaternary structure.
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Grant
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REGULATION OF PURINE NUCLEOTIDE SYNTHESIS IN HUMANS
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Grant
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REGULATION OF PURINE NUCLEOTIDE SYNTHESIS IN MAN
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