Disease on EC 2.7.6.1 - ribose-phosphate diphosphokinase
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5'-nucleotidase deficiency
Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography.
5'-nucleotidase deficiency
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.
Arthritis, Gouty
Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.
Ataxia
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Ataxia
[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.
Breast Neoplasms
Nucleotide de novo synthesis increases breast cancer stemness and metastasis via cGMP-PKG-MAPK signaling pathway.
Breast Neoplasms
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.
Carcinoma, Hepatocellular
Characterization of a feedback-resistant phosphoribosylpyrophosphate synthetase from cultured, mutagenized hepatoma cells that overproduce purines.
Carcinoma, Hepatocellular
Increased 5-phospho-alpha-D-ribose-1-diphosphate synthetase (ribosephosphate pyrophosphokinase, EC 2.7.6.1) activity in rat hepatomas.
Carcinoma, Hepatocellular
Increased PRPP synthetase activity in cultured rat hepatoma cells containing mutations in the hypoxanthine-guanine phosphoribosyltransferase gene.
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.
Charcot-Marie-Tooth Disease
Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy.
Charcot-Marie-Tooth Disease
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Charcot-Marie-Tooth Disease
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.
Colorectal Neoplasms
Cell-Cycle-Dependent Phosphorylation of PRPS1 Fuels Nucleotide Synthesis and Promotes Tumorigenesis.
Colorectal Neoplasms
Cytotoxicity and metabolism of 4-methoxy-8-(beta-D-ribofuranosylamino)pyrimido[5,4-d]pyrimidine in HCT 116 colon cancer cells.
Colorectal Neoplasms
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.
Deafness
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Deafness
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Deafness
Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.
Deafness
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Deafness
Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
Deafness
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Deafness
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Deafness
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Deafness
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.
Deafness
[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.
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.
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.
Glioma
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.
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.
Gout
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Gout
Clinical manifestations and molecular aspects of phosphoribosylpyrophosphate synthetase superactivity in females.
Gout
Diagnostic evaluation of phosphoribosylpyrophosphate synthetase activities in hemolysates.
Gout
Effect of treatment on erythrocyte phosphoribosyl pyrophosphate synthetase and glutathione reductase activity in patients with primary gout.
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
Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.
Gout
Gout with superactive phosphoribosylpyrophosphate synthetase due to increased enzyme catalytic rate.
Gout
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.
Gout
Human phosphoribosylpyrophosphate synthetase: radioimmunochemical quantitation in erythrocytes and fibroblasts.
Gout
Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
Gout
Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism.
Gout
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
Gout
N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1.
Gout
Normal activity of metabolic pathways involved in the formation and utilization of phosphoribosylpyrophosphate in erythrocytes of patients with primary metabolic gout.
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.
Gout
Phosphoribosyl pyrophosphate synthetase and glutathione reductase in erythrocytes from hyperuricaemic and gout patients.
Gout
Phosphoribosylpyrophosphate synthetase in human erythrocytes: assay and kinetic studies using high-performance liquid chromatography.
Gout
Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman.
Gout
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Gout
Superactivity of phosphoribosylpyrophosphate synthetase, due to feedback resistance, causing purine overproduction and gout.
Gout
The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.
Gout
X-linked pattern of inheritance of gout due to mutant feedback-resistant phosphoribosylpyrophosphate synthetase.
Gout
[Phosphoribosylpyrophosphate synthetase anomalies in 2 cases of gout beginning at an early age]
Hearing Loss
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Hearing Loss
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Hearing Loss
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Hearing Loss
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
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy.
Hearing Loss
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
Hearing Loss
Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
Hearing Loss
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).
Hearing Loss
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Hearing Loss
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Hearing Loss
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Hearing Loss, Sensorineural
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
Hearing Loss, Sensorineural
Zebrafish Model for Nonsyndromic X-Linked Sensorineural Deafness, DFNX1.
Hearing Loss, Sensorineural
[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].
hypoxanthine phosphoribosyltransferase deficiency
Alterations in purine metabolism in cultured fibroblasts with HGPRT deficiency and with PRPP synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
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.
hypoxanthine phosphoribosyltransferase deficiency
PRPP and purine nucleotide metabolism in human lymphoblasts with both PRPP synthetase superactivity and HGPRT deficiency.
hypoxanthine phosphoribosyltransferase deficiency
Regulation of nicotinamide-adenine dinucleotide synthesis in erythrocytes of patients with hypoxanthine-guanine phosphoribosyltransferase deficiency and a patient with phosphoribosylpyrophosphate synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
Regulation of purine nucleotide synthesis in human B lymphoblasts with both hypoxanthine-guanine phosphoribosyltransferase deficiency and phosphoribosylpyrophosphate synthetase superactivity.
hypoxanthine phosphoribosyltransferase deficiency
[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.
Infections
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
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.
Lesch-Nyhan Syndrome
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.
Lesch-Nyhan Syndrome
Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome.
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.
Leukemia
Regulation of phosphoribosylpyrophosphate synthetase by endogenous purine and pyrimidine compounds and synthetic analogs in normal and leukemic white blood cells.
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.
Mitochondrial Diseases
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Muscle Hypotonia
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Muscle Hypotonia
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Muscle Hypotonia
[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.
Neoplasm Metastasis
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.
Neoplasms
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Neoplasms
Effects of uridine diphosphoglucose (UDPG) infusion on 5-phosphoribosyl pyrophosphate (PRPP) levels of mouse tissues.
Neoplasms
KHK-A promotes the proliferation of oesophageal squamous cell carcinoma through the up-regulation of PRPS1.
Neoplasms
Mechanosensitive turnover of phosphoribosyl pyrophosphate synthetases regulates nucleotide metabolism.
Neoplasms
MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells.
Neoplasms
Phosphoribosylpyrophosphate Synthetase 1 Knockdown Suppresses Tumor Formation of Glioma CD133+ Cells Through Upregulating Cell Apoptosis.
Nervous System Diseases
An HPLC-linked assay of phosphoribosylpyrophosphate synthetase activity in the erythrocytes of adults and children with neurological disorders.
Nervous System Diseases
Pleiotropic role of Drosophila phosphoribosyl pyrophosphate synthetase in autophagy and lysosome homeostasis.
Nervous System Diseases
PRPS-Associated Disorders and the Drosophila Model of Arts Syndrome.
Neuroblastoma
Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
Neuroblastoma
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.
Optic Atrophy
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
Optic Atrophy
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Optic Nerve 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).
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).
Peripheral Nervous System Diseases
The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.
Peripheral Nervous System Diseases
X-linked Charcot-Marie-Tooth disease type 5 with recurrent weakness after febrile illness.
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.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Increase of PRPP enhances chemosensitivity of PRPS1 mutant acute lymphoblastic leukemia cells to 5-Fluorouracil.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Mutant PRPS1: a new therapeutic target in relapsed acute lymphoblastic leukemia.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL.
Precursor Cell Lymphoblastic Leukemia-Lymphoma
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].
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.
ribose-phosphate diphosphokinase deficiency
Association of PRPS1 Mutations with Disease Phenotypes.
ribose-phosphate diphosphokinase deficiency
Electroencephalographic study of an infant with phosphoribosylpyrophosphate synthetase deficiency.
ribose-phosphate diphosphokinase deficiency
Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
ribose-phosphate diphosphokinase deficiency
Metabolic approaches to the treatment of autism spectrum disorders.
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.
Starvation
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.
Tuberculosis
Biochemical and structural investigations on phosphoribosylpyrophosphate synthetase from Mycobacterium smegmatis.
Tuberculosis
Biochemical characterisation of the Mycobacterium tuberculosis phosphoribosyl-1-pyrophosphate synthetase (Mt-PrsA).
Tuberculosis
Biosynthesis of D-arabinose in mycobacteria - a novel bacterial pathway with implications for antimycobacterial therapy.
Tuberculosis
Mycobacterium tuberculosis phosphoribosylpyrophosphate synthetase: biochemical features of a crucial enzyme for mycobacterial cell wall biosynthesis.
Tuberculosis
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.
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