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Disease on EC 2.7.6.1 - ribose-phosphate diphosphokinase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
5'-nucleotidase deficiency
Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography.
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.
adenylosuccinate lyase deficiency
Metabolic approaches to the treatment of autism spectrum disorders.
alpha-Thalassemia
Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content.
Anemia, Aplastic
Effects of Sheng-Mai injection on the PRPP synthetase activity in BFU-es and CFU-es from bone marrows of mice with benzene-induced aplastic anemia.
Anemia, Hemolytic
Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.
Anemia, Megaloblastic
Acquired increases of human erythrocyte purine enzymes.
Anemia, Pernicious
Uric acid nephrolithiasis.
Arthritis, Gouty
Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.
Ataxia
Association of PRPS1 Mutations with Disease Phenotypes.
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
PRPS1 mutations: four distinct syndromes and potential treatment.
[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness]
beta-Thalassemia
Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content.
Brain Diseases
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Breast Neoplasms
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Nucleotide de novo synthesis increases breast cancer stemness and metastasis via cGMP-PKG-MAPK signaling pathway.
PRPS1 silencing reverses cisplatin resistance in human breast cancer cells.
Carcinogenesis
Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.
Carcinoma
KHK-A promotes the proliferation of oesophageal squamous cell carcinoma through the up-regulation of PRPS1.
Carcinoma, Hepatocellular
Biochemical approaches to enhancement of antitumor drug selectivity: selective protection of cells from 6-thioguanine and 6-mercaptopurine by adenosine.
Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines.
Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas.
Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine-guanine phosphoribosyltransferase gene.
Increased PRPP synthetase activity in rapidly growing hepatomas.
Cerebellar Ataxia
PRPS1 Gene Mutation Causes Complex X-Linked Adult-Onset Cerebellar Ataxia in Women.
Charcot-Marie-Tooth Disease
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Colorectal Neoplasms
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.
Cytotoxicity and metabolism of 4-methoxy-8-(beta-D-ribofuranosylamino)pyrimido[5,4-d]pyrimidine in HCT 116 colon cancer cells.
MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
Deaf-Blind Disorders
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.
Deafness
Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
Association of PRPS1 Mutations with Disease Phenotypes.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
PRPS1 mutations: four distinct syndromes and potential treatment.
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness]
Deficiency Diseases
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.
Diabetes Insipidus
Association of PRPS1 Mutations with Disease Phenotypes.
dihydropyrimidinase deficiency
Metabolic approaches to the treatment of autism spectrum disorders.
Dihydropyrimidine Dehydrogenase Deficiency
Metabolic approaches to the treatment of autism spectrum disorders.
Down Syndrome
Immunological and purine enzyme studies on hyperuricaemic and normouricaemic patients with Down's syndrome.
Esophageal Squamous Cell Carcinoma
KHK-A promotes the proliferation of oesophageal squamous cell carcinoma through the up-regulation of PRPS1.
Genetic Diseases, Inborn
Uric acid nephrolithiasis.
Glioblastoma
Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families.
Glioma
Expression of phosphoribosyl pyrophosphate synthetase genes in U87 glioma cells with ERN1 knockdown: effect of hypoxia and endoplasmic reticulum stress.
Phosphoribosylpyrophosphate Synthetase 1 Knockdown Suppresses Tumor Formation of Glioma CD133+ Cells Through Upregulating Cell Apoptosis.
glucose-6-phosphate dehydrogenase (nadp+) deficiency
Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparum.
Glucosephosphate Dehydrogenase Deficiency
Ribose metabolism and nucleic acid synthesis in normal and glucose-6-phosphate dehydrogenase-deficient human erythrocytes infected with Plasmodium falciparum.
Glycogen Storage Disease
Gout, uric acid and purine metabolism in paediatric nephrology.
Gout
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Arts syndrome is caused by loss-of-function mutations in PRPS1.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates.
Effect of treatment on erythrocyte phosphoribosyl pyrophosphate synthetase and glutathione reductase activity in patients with primary gout.
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.
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.
Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate.
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.
Human phosphoribosylpyrophosphate synthetase: radioimmunochemical quantitation in erythrocytes and fibroblasts.
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1.
Normal activity of metabolic pathways involved in the formation and utilization of phosphoribosylpyrophosphate in erythrocytes of patients with primary metabolic gout.
Overproduction disease in man due to enzyme feedback resistance mutation. Purine overproduction in gout due to excessive activity of mutant feedback-resistant phosphoribosylpyrophosphate synthetase.
Phosphoribosyl pyrophosphate synthetase and glutathione reductase in erythrocytes from hyperuricaemic and gout patients.
Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography.
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Research progress in the genetics of hyperuricaemia and gout.
Superactivity of phosphoribosylpyrophosphate synthetase, due to feedback resistance, causing purine overproduction and gout.
The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.
Uric acid nephrolithiasis.
X-linked pattern of inheritance of gout due to mutant feedback-resistant phosphoribosylpyrophosphate synthetase.
[Increased activity of PRPP synthetase]
[Phosphoribosylpyrophosphate synthetase anomalies in 2 cases of gout beginning at an early age]
Hearing Loss
Analysis of miR-376 RNA cluster members in the mouse inner ear.
Association of PRPS1 Mutations with Disease Phenotypes.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
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.
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome.
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
Nonsyndromic X-linked hearing loss.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
PRPS1 mutations: four distinct syndromes and potential treatment.
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
Hearing Loss, Sensorineural
Association of PRPS1 Mutations with Disease Phenotypes.
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness]
Hematologic Diseases
[PRPS1 Expression in Children with Acute Leukemia and Its Clinical Significance].
Hemoglobinopathies
Uric acid nephrolithiasis.
Hyperoxaluria, Primary
Nephrolithiasis related to inborn metabolic diseases.
hypoxanthine phosphoribosyltransferase deficiency
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
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.
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
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.
[Abnormalities in urate metabolism: concept and classification]
Infections
Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Intellectual Disability
PRPS1 mutations: four distinct syndromes and potential treatment.
Iron Deficiencies
Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content.
Lesch-Nyhan Syndrome
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
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.
Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome.
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
Leukemia
Potent and specific inhibitors of mammalian phosphoribosylpyrophosphate (PRPP) synthetase.
Regulation of phosphoribosylpyrophosphate synthetase by endogenous purine and pyrimidine compounds and synthetic analogs in normal and leukemic white blood cells.
[Abnormalities in urate metabolism: concept and classification]
Liver Neoplasms, Experimental
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.
Lymphoproliferative Disorders
Uric acid nephrolithiasis.
Mitochondrial Diseases
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Multiple Myeloma
Uric acid nephrolithiasis.
Muscle Hypotonia
Association of PRPS1 Mutations with Disease Phenotypes.
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
PRPS1 mutations: four distinct syndromes and potential treatment.
[Metabolism of purine nucleotides in the central nervous system in patients with phosphoribosylpyrophosphate synthetase hyperactivity and neurosensory deafness]
Neoplasm Metastasis
Nucleotide de novo synthesis increases breast cancer stemness and metastasis via cGMP-PKG-MAPK signaling pathway.
SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.
Neoplasms
De novo guanylate synthesis in the commitment to replication in hepatoma 3924A cells.
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Effects of uridine diphosphoglucose (UDPG) infusion on 5-phosphoribosyl pyrophosphate (PRPP) levels of mouse tissues.
KHK-A promotes the proliferation of oesophageal squamous cell carcinoma through the up-regulation of PRPS1.
Mechanosensitive turnover of phosphoribosyl pyrophosphate synthetases regulates nucleotide metabolism.
MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
Phosphoribosylpyrophosphate Synthetase 1 Knockdown Suppresses Tumor Formation of Glioma CD133+ Cells Through Upregulating Cell Apoptosis.
PRPS1 silencing reverses cisplatin resistance in human breast cancer cells.
Nervous System Diseases
An HPLC-linked assay of phosphoribosylpyrophosphate synthetase activity in the erythrocytes of adults and children with neurological disorders.
Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.
PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome.
Neuroblastoma
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
SNHG16 knockdown inhibits tumorigenicity of neuroblastoma in children via miR-15b-5p/PRPS1 axis.
Optic Atrophy
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Optic Nerve Diseases
Association of PRPS1 Mutations with Disease Phenotypes.
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
orotidine-5'-phosphate decarboxylase deficiency
Deficiency of UMP synthase in dairy cattle: a model for hereditary orotic aciduria.
Peripheral Nervous System Diseases
Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (cmtx5).
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Phenylketonurias
Metabolic approaches to the treatment of autism spectrum disorders.
Polycythemia
Uric acid nephrolithiasis.
Polyneuropathies
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
High expression of PRPS1 induces an anti-apoptotic effect in B-ALL cell lines and predicts an adverse prognosis in Chinese children with B-ALL.
Increase of PRPP enhances chemosensitivity of PRPS1 mutant acute lymphoblastic leukemia cells to 5-Fluorouracil.
Mutant PRPS1: a new therapeutic target in relapsed acute lymphoblastic leukemia.
Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.
Thiopurine Resistance in Childhood ALL Is Mediated by PRPS1 Mutations.
Precursor T-Cell Lymphoblastic Leukemia-Lymphoma
[PRPS1 Expression in Children with Acute Leukemia and Its Clinical Significance].
Renal Insufficiency
Female gout. Clinical spectrum and uric acid metabolism.
Respiratory Tract Infections
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Retinal Degeneration
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
ribose-phosphate diphosphokinase deficiency
A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
Association of PRPS1 Mutations with Disease Phenotypes.
Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Metabolic approaches to the treatment of autism spectrum disorders.
[PRPP synthetase deficiency]
Sarcoma, Yoshida
Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase.
Starvation
Characterization of a Salmonella typhimurium mutant defective in phosphoribosylpyrophosphate synthetase.
Inhibition of cellular growth by increased guanine nucleotide pools. Characterization of an Escherichia coli mutant with a guanosine kinase that is insensitive to feedback inhibition by GTP.
Thalassemia
Uric acid nephrolithiasis.
Tuberculosis
Biochemical and structural investigations on phosphoribosylpyrophosphate synthetase from Mycobacterium smegmatis.
Biochemical characterisation of the Mycobacterium tuberculosis phosphoribosyl-1-pyrophosphate synthetase (Mt-PrsA).
Biosynthesis of D-arabinose in mycobacteria - a novel bacterial pathway with implications for antimycobacterial therapy.
Mycobacterium tuberculosis phosphoribosylpyrophosphate synthetase: biochemical features of a crucial enzyme for mycobacterial cell wall biosynthesis.
Wild-type phosphoribosylpyrophosphate synthase (PRS) from Mycobacterium tuberculosis: a bacterial class II PRS?
Werner Syndrome
Normal thermostability of hypoxanthine guanine phosphoribosyltransferase in erythrocytes from Werner's syndrome patients.