Disease: Phosphoribosylpyrophosphate synthetase deficiency
- A Novel PRPS1 Mutation in a Japanese Patient with CMTX5
- A profound computational study to prioritize the disease-causing mutations in PRPS1 gene
- A simplified method for the determination of phosphoribosylpyrophosphate synthetase activity in hemolysates
- Abnormalities in urate metabolism: concept and classification
- Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase
- Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases
- Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity
- Alterations of inosinate branchpoint enzymes in cultured human lymphoblasts
- AMPD3-deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency
- Analysis of abnormalities in purine metabolism leading to gout and to neurological dysfunctions in man
- Association of PRPS1 Mutations with Disease Phenotypes
- Characterization of a Salmonella typhimurium mutant defective in phosphoribosylpyrophosphate synthetase
- Characterization of purine nucleotide metabolism in cultured fibroblasts with deficiency of hypoxanthine-guanine phosphoribosyltransferase and with superactivity of phosphoribosylpyrophosphate synthetase
- Characterization of the phosphoribosylpyrophosphate synthetase gene from Candida albicans
- Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later
- Clinical and biochemical aspects of uric acid overproduction
- Convulsive disorders in inborn errors of metabolism (author's transl)
- Decrease in subunit aggregation of phosphoribosylpyrophosphate synthetase: a mechanism for decreased nucleotide concentrations in pyruvate kinase-deficient human erythrocytes
- Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content
- Decreased phosphoribosylpyrophosphate as the basis for decreased purine synthesis during amino acid starvation of human lymphoblasts
- Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria
- Dependence of the metabolic fate of IMP on the rate of total IMP synthesis. Studies in cultured fibroblasts from normal subjects and from purine-overproducing mutant patients
- Determination of oxypurine and its clinical implication
- Disorders associated with purine and pyrimidine metabolism
- Disorders of purine and pyrimidine metabolism
- Disorders of purine biosynthesis metabolism
- Effects of phosphate limitation on expression of genes involved in pyrimidine synthesis and salvaging in Arabidopsis
- Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency
- Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
- Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress
- Folate-deficient human lymphoblasts: changes in de novo purine and pyrimidine synthesis and phosphoribosylpyrophosphate
- Functional characterization of a novel loss-of-function mutation of PRPS1 related to early-onset progressive nonsyndromic hearing loss in Koreans (DFNX1): Potential implications on future therapeutic intervention
- Gene therapy for intraperitoneally disseminated pancreatic cancers by Escherichia coli uracil phosphoribosiltransferase (UPRT) gene mediated by restricted replication-competent adenoviral vectors
- Gene therapy for pancreatic cancer targeting the genomic alterations of tumor suppressor genes using replication-selective oncolytic adenovirus
- Genetic testing and gene-based testing for hyperuricemia and gout
- Gout, uric acid and purine metabolism in paediatric nephrology
- gsk disruption leads to guanosine accumulation in Escherichia coli
- Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
- Heberden oration 1979: human aberrations of purine metabolism and their significance for rheumatology
- Hereditary anomalies of purine metabolism. Current biochemical aspects
- Hereditary erythrocyte adenylate kinase deficiency: a defect of multiple phosphotransferases?
- HPLC determination of oxidized and reduced pyridine coenzymes in human erythrocytes
- Human purine metabolism: some recent advances and relationships with immunodeficiency
- Hyperuricemia and gout. Classification, complications and management
- Hyperuricemia associated with inborn errors of purine metabolism: screening, enzymatic and genetic diagnosis
- Hypoxanthine guanine phosphoribosyltransferase (HPRT) deficiencies: HPRT1 mutations in new Japanese families and PRPP concentration
- Idiopathic hyperuricemia
- Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome
- Impaired erythrocyte phosphoribosylpyrophosphate formation in hemolytic anemia due to pyruvate kinase deficiency
- Impaired PRPP-synthesizing capacity compromises cell integrity signalling in Saccharomyces cerevisiae
- Inborn errors of purine metabolism: clinical update and therapies
- Increased phosphoribosylpyrophosphate synthetase activity in fibroblasts of hypoxanthine-guanine phosphoribosyl transferase deficient patients
- Inherited disorders of purine metabolism--underlying molecular mechanisms
- Inherited disorders of uric acid metabolism--classification, enzymatic- and DNA-diagnosis
- Inherited hyperuricemic disorders
- Inhibition of 5-phosphoribosyl-1-pyrophosphate synthetase by the monophosphate metabolite of 4-amino-8-(beta-D-ribofuranosylamino)pyrimido[5,4-d]pyrimidine: a novel mechanism for antitumor activity
- Kinetic aspects of purine metabolism in cultured fibroblasts. A comparative study of cells from patients overproducing purines due to HGPRT deficiency and PRPP synthetase superactivity
- Mechanisms of accelerated purine nucleotide synthesis in human fibroblasts with superactive phosphoribosylpyrophosphate synthetases
- Membrane-associated purine metabolizing enzyme activities of human peripheral blood cells
- Metabolic approaches to the treatment of autism spectrum disorders
- Metabolic aspects in gout
- Metabolic interaction between amino acid deprivation and cisplatin synergistically reduces phosphoribosyl-pyrophosphate and augments cisplatin cytotoxicity
- Metabolism of purine nucleotides and the production of uric acid
- Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females
- Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism
- Neurological disorders of purine and pyrimidine metabolism
- Next-Generation Sequencing and Quantitative Proteomics of Hutchinson-Gilford progeria syndrome-derived cells point to a role of nucleotide metabolism in premature aging
- Nicotinic acid phosphoribosyltransferase activity in human erythrocytes: studies using a new HPLC method
- Overexpression of C1-tetrahydrofolate synthase in fetal Down syndrome brain
- Pediatric neurological syndromes and inborn errors of purine metabolism
- Phosphoribosyl diphosphate synthetase-independent NAD de novo synthesis in Escherichia coli: a new phenotype of phosphate regulon mutants
- Phosphoribosylpyrophosphate Synthetase Deficiency
- Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography
- Phosphoribosylpyrophosphate(PRPP) synthetase
- Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
- Primary underproductive hypouricemia
- PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency
- PRPP synthetase deficiency
- PRPP synthetase deficiency
- PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review
- Purine metabolism in lymphocytes from patients with primary hypogammaglobulinaemia
- Purine synthesis during amino acid starvation of lymphoblasts with HPRT deficiency or PP-ribose-P synthetase overactivity decreases less than in normal cells
- Pyrimidine nucleotides impair phosphoribosylpyrophosphate (PRPP) synthetase subunit aggregation by sequestering magnesium. A mechanism for the decreased PRPP synthetase activity in hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency
- Regulation of 5-phosphoribosyl-1-pyrophosphate synthesis in human fibroblasts by the concentration of inorganic phosphate
- Regulation of de novo purine biosynthesis in normal and 8-azaguanine-resistant Chinese hamster cells
- Regulation of de novo purine synthesis in chick liver slices. Role of phosphoribosylpyrophosphate availability and of salvage purine nucleotide synthesis
- Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity
- Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity
- Regulation of purine synthesis de novo in human fibroblasts by purine nucleotides and phosphoribosylpyrophosphate
- Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparum
- Rifampin-induced initiation of chromosome replication in dnaR-deficient Escherichia coli cells
- Screening for enzyme abnormality causing hyperuricemia
- Synthesis and metabolic fate of purine nucleotides in cultured fibroblasts from normal subjects and from purine overproducing mutants
- The importance of the five phosphoribosyl-pyrophosphate synthetase (Prs) gene products of Saccharomyces cerevisiae in the maintenance of cell integrity and the subcellular localization of Prs1p
- The influence of ribose 5-phosphate availability on purine synthesis of cultured human lymphoblasts and mitogen-stimulated lymphocytes
- The prevalence of purine metabolic disorders in Japan
- The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
- The rate of purine synthesis de nova in blood mononuclear cells in vitro from patients with familial hyperuricaemic nephropathy
- The Saccharomyces cerevisiae mutation elm4-1 facilitates pseudohyphal differentiation and interacts with a deficiency in phosphoribosylpyrophosphate synthase activity to cause constitutive pseudohyphal growth
- Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions