PRPS1

Summary

Gene Symbol: PRPS1
Description: phosphoribosyl pyrophosphate synthetase 1
Alias: ARTS, CMTX5, DFN2, DFNX1, PPRibP, PRS-I, PRSI, ribose-phosphate pyrophosphokinase 1, dJ1070B1.2 (phosphoribosyl pyrophosphate synthetase 1), deafness 2, perceptive, congenital, deafness, X-linked 2, perceptive, congenital, phosphoribosyl pyrophosphate synthase I, ribose-phosphate diphosphokinase 1
Species: human

Top Publications

  1. ncbi Unsymmetrically substituted disilyne Dsi(2)(i)PrSi-Si≡Si-SiNpDsi(2) (Np = CH(2)(t)Bu): synthesis and characterization
    Yoshitaka Murata
    Department of Chemistry, Graduate School of Pure and Applied Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8571, Japan
    J Am Chem Soc 132:16768-70. 2010
  2. doi N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1
    Honglin Liu
    National Synchrotron Radiation Laboratory, University of Science and Technology of China, Hefei, Anhui 230029, People s Republic of China
    Biochem Biophys Res Commun 379:1120-5. 2009
  3. pmc Arts syndrome is caused by loss-of-function mutations in PRPS1
    Arjan P M de Brouwer
    Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:507-18. 2007
  4. pmc 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)
    Hee Jin Kim
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam Gu, Seoul, Korea
    Am J Hum Genet 81:552-8. 2007
  5. pmc Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
    Xuezhong Liu
    Department of Otolaryngology, University of Miami, FL 33136, USA
    Am J Hum Genet 86:65-71. 2010
  6. pmc PRPS1 mutations: four distinct syndromes and potential treatment
    Arjan P M de Brouwer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 86:506-18. 2010
  7. pmc The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo
    N Edison
    Department of Biology, Faculty of Natural Sciences, Cell Death Research Laboratory, University of Haifa, Multi Purpose Building, Mount Carmel, Haifa 31905, Israel
    Cell Death Differ 19:356-68. 2012
  8. doi Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I
    Rocio Moran
    Cleveland Clinic Foundation, Genomic Medicine Institute, Cleveland, Ohio, USA
    Am J Med Genet A 158:455-60. 2012
  9. pmc Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein
    Stav Kemeny
    Cell Death Research Laboratory, Department of Biology, Faculty of Sciences, University of Haifa, Mount Carmel, Haifa, Israel
    PLoS ONE 7:e38837. 2012
  10. pmc Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
    Xue Zhong Liu
    Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Int J Audiol 52:23-8. 2013

Research Grants

Scientific Experts

  • Yasukazu Yamada
  • Yunjun Wang
  • Arjan Pm de Brouwer
  • Koichi Maruyama
  • Xue Z Liu
  • T M Neuhann
  • K F Jensen
  • S Ishijima
  • Mircea Dragoteanu
  • Matthis Synofzik
  • John A Duley
  • Michael Becker
  • Denise Yan
  • Rahul Mittal
  • Xu Li
  • Maikun Teng
  • Xinjian Li
  • Xuexin Yu
  • So Young Kim
  • Zheng Min
  • Lars Mommers
  • Feifan Xu
  • Almundher Al-Maawali
  • Marta Gandía
  • Michela Robusto
  • Fangliang Zhang
  • Zhaoping Qiu
  • Benshang Li
  • Xun Xu
  • Berta Almoguera
  • Jeroen Roelofsen
  • Eziuche A Ugbogu
  • Yan Liu
  • Peng Chen
  • Shanchao Hong
  • Stav Kemeny
  • N Edison
  • Dagmar Homerova
  • Mee Hyun Song
  • Isidora Romani
  • Torahiko Yamaguchi
  • Rocio Moran
  • Jianping Ding
  • Akira Sekiguchi
  • Yoshitaka Murata
  • Andrej Grubisic
  • Honglin Liu
  • Rosa J Torres
  • Taizo Iizasa
  • M A Becker
  • Hee Jin Kim
  • Sheng Li
  • Wenying Tang
  • H J Kim
  • Atsushi Kaida
  • V Micheli
  • Bin Cui
  • Yanhua Zheng
  • Song Lin Ding
  • Shujun Cheng
  • Min Young Kim
  • Dianming Liu
  • Eun Hee Jeon
  • Xu Qian
  • Byung Yoon Choi
  • Yuhui Jiang
  • Jin Hee Han
  • Bo Wu
  • Chao Nan Qian
  • Yan Xia
  • Ah Reum Kim
  • Lin Feng
  • Zujing Han
  • David H Hawke
  • Pablo Garcia-Pavia
  • Li Xia Peng
  • Nayoung K D Kim
  • Lianfeng Zhang
  • Gilbert Cote
  • Zhimin Lu
  • Liwei Wang
  • Jong Ho Lee
  • Woong Yang Park
  • Ma Junwu
  • Chung Lee
  • Hongxia Wang
  • Wei Jiang
  • Miguel A Moreno-Pelayo
  • Huanhuan Liang
  • Wangsheng Li

Detail Information

Publications84

  1. ncbi Unsymmetrically substituted disilyne Dsi(2)(i)PrSi-Si≡Si-SiNpDsi(2) (Np = CH(2)(t)Bu): synthesis and characterization
    Yoshitaka Murata
    Department of Chemistry, Graduate School of Pure and Applied Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8571, Japan
    J Am Chem Soc 132:16768-70. 2010
    The unsymmetrically substituted disilyne, Dsi(2)(i)PrSi-Si≡Si-SiNpDsi(2) (Np = CH(2)(t)Bu) 2, was synthesized and characterized by X-ray crystallography to show a trans-bent structure with a silicon-silicon triple bond length of 2...
  2. doi N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1
    Honglin Liu
    National Synchrotron Radiation Laboratory, University of Science and Technology of China, Hefei, Anhui 230029, People s Republic of China
    Biochem Biophys Res Commun 379:1120-5. 2009
    ..These two factors could be responsible for the high level of activity of N114S-Mutant in this patient...
  3. pmc Arts syndrome is caused by loss-of-function mutations in PRPS1
    Arjan P M de Brouwer
    Departments of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
    Am J Hum Genet 81:507-18. 2007
    ..of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T-->C (p...
  4. pmc 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)
    Hee Jin Kim
    Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam Gu, Seoul, Korea
    Am J Hum Genet 81:552-8. 2007
    ..syndrome, and recently a Korean family with the same symptom triad was identified with a novel disease locus CMTX5 on the chromosome band Xq21.32-q24...
  5. pmc Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
    Xuezhong Liu
    Department of Otolaryngology, University of Miami, FL 33136, USA
    Am J Hum Genet 86:65-71. 2010
    ..41 cM and a physical distance of 15.1 Mb that overlaps the DFN2 locus. Mutation screening of the PRPS1 gene in this family and in the three previously reported DFN2 families identified four different missense ..
  6. pmc PRPS1 mutations: four distinct syndromes and potential treatment
    Arjan P M de Brouwer
    Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences and Institute of Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, 6500 HB Nijmegen, The Netherlands
    Am J Hum Genet 86:506-18. 2010
    ..With this in mind, it is remarkable that mutations in phosphoribosylpyrophosphate synthetase 1 (PRPS1), which is the most ubiquitously expressed gene of the three PRS genes, are compatible with life...
  7. pmc The IAP-antagonist ARTS initiates caspase activation upstream of cytochrome C and SMAC/Diablo
    N Edison
    Department of Biology, Faculty of Natural Sciences, Cell Death Research Laboratory, University of Haifa, Multi Purpose Building, Mount Carmel, Haifa 31905, Israel
    Cell Death Differ 19:356-68. 2012
    b>ARTS (Sept4_i2) is a pro-apoptotic tumor suppressor protein that functions as an antagonist of X-linked IAP (XIAP) to promote apoptosis...
  8. doi Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I
    Rocio Moran
    Cleveland Clinic Foundation, Genomic Medicine Institute, Cleveland, Ohio, USA
    Am J Med Genet A 158:455-60. 2012
    We identified a novel missense mutation, c.424G>C (p.Val142Leu) in PRPS1 in a patient with uric acid overproduction without gout but with developmental delay, hypotonia, hearing loss, and recurrent respiratory infections...
  9. pmc Parkin promotes degradation of the mitochondrial pro-apoptotic ARTS protein
    Stav Kemeny
    Cell Death Research Laboratory, Department of Biology, Faculty of Sciences, University of Haifa, Mount Carmel, Haifa, Israel
    PLoS ONE 7:e38837. 2012
    ..Mutations in Parkin which impair its E3-ligase activity play a major role in the pathogenesis of inherited PD. ARTS (Sept4_i2) is a mitochondrial protein, which initiates caspase activation upstream of cytochrome c release in the ..
  10. pmc Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
    Xue Zhong Liu
    Department of Otolaryngology, Miller School of Medicine, University of Miami, Miami, Florida 33136, USA
    Int J Audiol 52:23-8. 2013
    The purpose of this review was to evaluate the current literature on phosphoribosylpyrophosphate synthetase 1 (PRPS1)-related diseases and their consequences on hearing function.
  11. pmc Crystal structure of human phosphoribosylpyrophosphate synthetase 1 reveals a novel allosteric site
    Sheng Li
    State Key Laboratory of Molecular Biology, Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, 320 Yue Yang Road, Shanghai 200031, China
    Biochem J 401:39-47. 2007
    ....
  12. pmc Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders
    Almundher Al-Maawali
    1 Department of Paediatrics, Division of Clinical and Metabolic Genetics, The Hospital for Sick Children and University of Toronto, Toronto, ON, Canada 2 Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman
    Eur J Hum Genet 23:310-6. 2015
    ..of PRPS1-related disorders associated with reduced activity includes Arts syndrome, Charcot-Marie-Tooth disease-5 (CMTX5) and X-linked non-syndromic sensorineural deafness (DFN2)...
  13. doi Versatile roles of Arabidopsis plastid ribosomal proteins in plant growth and development
    Isidora Romani
    Dipartimento di Bioscienze, Universita degli Studi di Milano, I 20133 Milano, ItalyLehrstuhl für Molekularbiologie der Pflanzen Botanik, Department Biologie I, Ludwig Maximilians Universitat Munchen, D 82152 Planegg Martinsried, GermanyPlant Biochemistry, Heinrich Heine University Dusseldorf, Universitatsstrasse 1, D 40225 Dusseldorf, Germany
    Plant J 72:922-34. 2012
    ..In this study, reverse genetics was employed to study the function of eight PRPs, five of which (PRPS1, -S20, -L27, -L28 and -L35) have not been functionally characterised before...
  14. doi A small disturbance, but a serious disease: the possible mechanism of D52H-mutant of human PRS1 that causes gout
    Peng Chen
    University of Science and Technology of China, School of Life Sciences, Hefei, Anhui, People s Republic of China
    IUBMB Life 65:518-25. 2013
    ..These interaction variations would further influence the conformation of ADP-binding pocket of D52H-mutant and reduced the inhibitor sensitivity of PRS1 in patient's body...
  15. doi Metabonomic profiling revealed an alteration in purine nucleotide metabolism associated with cardiac hypertrophy in rats treated with thiazolidinediones
    Yan Liu
    Institute of Cardiovascular Science, Peking University Health Science Center, 38 Xueyuan Road, Beijing 100191, China
    J Proteome Res 12:5634-41. 2013
    ..TZD-up-regulated genes such as adenylosuccinate synthase gene (Adss) and phosphoribosl pyrophosphate synthetase 1 (Prps1), and the binding of PPARγ to these motifs was confirmed by using chromatin immunoprecipitation assay...
  16. pmc 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
    Matthis Synofzik
    Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tubingen, Tubingen, Germany
    Orphanet J Rare Dis 9:24. 2014
    X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-..
  17. pmc 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
    So Young Kim
    Department of Otorhinolaryngology Head and Neck Surgery, CHA Bundang Medical Center, CHA University, Seongnam, South Korea
    J Gene Med 18:353-358. 2016
    The symptoms of phosphoribosyl pyrophosphate synthetase 1 (PRPS1) deficiency diseases have been reported to be alleviated by medication...
  18. pmc The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy
    Michela Robusto
    Dipartimento di Biotecnologie mediche e Medicina traslazionale, Universita degli Studi di Milano, Milan, Italy
    Eur J Hum Genet 23:766-73. 2015
    ..with hearing impairment (eg, Arts syndrome and Charcot-Marie-Tooth neuropathy type X-5) or non-syndromic HL (DFNX1)...
  19. pmc Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy
    Berta Almoguera
    Center for Applied Genomics, The Children s Hospital of Philadelphia, Philadelphia, PA, 19104, USA
    Orphanet J Rare Dis 9:190. 2014
    ..pyrophosphate synthetase (PRS) I deficiency is a rare medical condition caused by missense mutations in PRPS1 that lead to three different phenotypes: Arts Syndrome (MIM 301835), X-linked Charcot-Marie-Tooth (CMTX5, MIM ..
  20. doi SPEEDBOMB: a simple and rapid checklist for Prehospital Rapid Sequence Induction
    Lars Mommers
    Department of Intensive Care Medicine, Maastricht University Medical Centre, Maastricht, The Netherlands
    Emerg Med Australas 27:165-8. 2015
    ..The SPEEDBOMB checklist for Prehospital Rapid Sequence Induction (PRSI) management rapidly addresses critical steps in the RSI process, is designed to improve checklist compliance and ..
  21. doi Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling
    Marta Gandía
    1 Servicio de Genética, Hospital Universitario Ramon y Cajal, IRYCIS, Madrid, Spain 2 Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Madrid, Spain
    Pediatr Res 78:97-102. 2015
    b>PRPS1 encodes isoform I of phosphoribosylpyrophosphate synthetase (PRS-I), a key enzyme in nucleotide biosynthesis...
  22. pmc Specificity protein 1 transcription factor regulates human ARTS promoter activity through multiple binding sites
    Feifan Xu
    Department of Pathogen Biology, School of Medicine, Nantong University, 19 Qixiu Road, Nantong 226001, Jiangsu, People s Republic of China Clinical laboratory, The Sixth People s Hospital of Nantong, Nantong 226001, Jiangsu, People s Republic of China
    PLoS ONE 10:e0120072. 2015
    Apoptosis-related protein in the TGF-β signaling pathway (ARTS) is an unusual mitochondrial Septin-like protein which functions as a tumor suppressor...
  23. pmc Negative feedback-defective PRPS1 mutants drive thiopurine resistance in relapsed childhood ALL
    Benshang Li
    1 Key Laboratory of Pediatric Hematology and Oncology Ministry of Health, Department of Hematology and Oncology, Shanghai Children s Medical Center, Shanghai Jiao Tong University School of Medicine, Shanghai, China 2 Shanghai Ministry of Science and Technology Key Laboratory of Health and Disease Genomics, Chinese National Human Genome Center at Shanghai, Shanghai, China 3 Pediatric Translational Medicine Institute, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Nat Med 21:563-71. 2015
    ..sequencing, we identified relapse-specific mutations in the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1), which encodes a rate-limiting purine biosynthesis enzyme, in 24/358 (6...
  24. pmc Association of PRPS1 Mutations with Disease Phenotypes
    Rahul Mittal
    Department of Otolaryngology, University of Miami Miller School of Medicine, Miami, FL 33136, USA
    Dis Markers 2015:127013. 2015
    ..decreased activity leads to X-linked nonsyndromic sensorineural deafness (DFNX-2), Charcot-Marie-Tooth disease-5 (CMTX5), and Arts syndrome depending on the residual activity of PRS-I...
  25. pmc Arginylation regulates purine nucleotide biosynthesis by enhancing the activity of phosphoribosyl pyrophosphate synthase
    Fangliang Zhang
    1 University of Pennsylvania School of Veterinary Medicine, Philadelphia, Pennsylvania 19104, USA 2 University of Miami School of Medicine, and Sylvester Comprehensive Cancer Center, Miami, Florida 33136, USA
    Nat Commun 6:7517. 2015
    ..show that the purine nucleotide biosynthesis enzyme PRPS2 is selectively arginylated, unlike its close homologue PRPS1, and that arginylation of PRPS2 directly facilitates its biological activity...
  26. doi MicroRNA-124 reduces the pentose phosphate pathway and proliferation by targeting PRPS1 and RPIA mRNAs in human colorectal cancer cells
    Zhaoping Qiu
    State Key Laboratory of Oncogenes and Related Genes, Shanghai Cancer Institute, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
    Gastroenterology 149:1587-1598.e11. 2015
    ..We aimed to identify miRNAs that alter glucose metabolism in CRC cells and to determine their effects on tumor development...
  27. pmc Quantitative proteomics reveals the novel co-expression signatures in early brain development for prognosis of glioblastoma multiforme
    Xuexin Yu
    College of Bioinformatics Science and Technology, Harbin Medical University, Harbin 150081, China
    Oncotarget 7:14161-71. 2016
    ..expressed on early stage contained more reproducible prognostic genes, including ILF2, CCT7, CCT4, RPL10A, MSN, PRPS1, TFRC and APEX1...
  28. pmc A splicing switch from ketohexokinase-C to ketohexokinase-A drives hepatocellular carcinoma formation
    Xinjian Li
    Department of Neuro Oncology, The University of Texas MD Anderson Cancer Center, Houston, Texas 77030, USA
    Nat Cell Biol 18:561-71. 2016
    ..KHK-A acts as a protein kinase, phosphorylating and activating phosphoribosyl pyrophosphate synthetase 1 (PRPS1) to promote pentose phosphate pathway-dependent de novo nucleic acid synthesis and HCC formation...
  29. doi Research progress in the genetics of hyperuricaemia and gout
    Zheng Min
    National Key Laboratory for Swine Genetics, Breeding and Production Technology, Jiangxi Agricultural University, Nanchang 330045, China
    Yi Chuan 38:300-13. 2016
    ..Early researches show that a few of rare monogenic mutations, such as PRPS1 and HPRT1 mutations, lead to abnormal purine anabolism and then cause hyperuricaemia and gout...
  30. doi Arts syndrome with a novel missense mutation in the PRPS1 gene: A case report
    Koichi Maruyama
    Department of Pediatric Neurology, Aichi Prefectural Colony Central Hospital, Kasugai, Japan Electronic address
    Brain Dev 38:954-958. 2016
    ..Arts syndrome is an X-linked disorder caused by a loss-of-function mutation in the PRPS1 gene, which encodes phosphoribosylpyrophosphate synthetase 1. Only three families have been reported...
  31. ncbi Are allopurinol and metabolites found in HPRT deficient erythrocytes responsible for increased NAD synthesis?
    V Micheli
    Dip Biologia Molecolare, Universita di Siena, Siena, Italy
    Nucleosides Nucleotides Nucleic Acids 23:1189-91. 2004
    ..HPRT) deficient patients, or metabolites abnormally increased in HPRT deficient erythrocytes (NAD, PPribP) could be directly responsible for the reported increased activities of nicotinic acid phosphoribosyltransferase (..
  32. pmc Analysis of miR-376 RNA cluster members in the mouse inner ear
    Denise Yan
    Department of Otolaryngology, University of Miami, Miami, FL 33136, USA
    Int J Exp Pathol 93:450-7. 2012
    Mutations in phosphoribosyl pyrophosphate synthetase 1 (PRPS1) are associated with a spectrum of non-syndromic to syndromic hearing loss. PRPS1 transcript levels have been shown to be regulated by the microRNA-376 genes...
  33. doi The contribution of the nonhomologous region of Prs1 to the maintenance of cell wall integrity and cell viability
    Eziuche A Ugbogu
    School of Life Sciences, Heriot Watt University, Edinburgh, UK
    FEMS Yeast Res 13:291-301. 2013
    ..Human PRPS1 cDNA cannot rescue the synthetic lethality of a prs1Δ prs5Δ strain because it lacks sequences corresponding to ..
  34. doi Regulation of an alternative sigma factor σI by a partner switching mechanism with an anti-sigma factor PrsI and an anti-anti-sigma factor ArsI in Streptomyces coelicolor A3(2)
    Dagmar Homerova
    Institute of Molecular Biology, Slovak Academy of Sciences, 845 51 Bratislava, Slovak Republic
    Gene 492:71-80. 2012
    Two genes, prsI and arsI, are located divergently next to the sigI gene encoding alternative sigma factor σI of Streptomyces coelicolor A3(2)...
  35. doi Genetic and phenotypic variability of optic neuropathies
    Teresa Neuhann
    Medizinisch Genetisches Zentrum, Munich, Bayerstrasse 3 5, Munich 80335, Germany
    Expert Rev Neurother 13:357-67. 2013
    ..in this group are mtDNA mutations, inherited peripheral neuropathies, Charcot-Marie-Tooth disorders (CMT2A2, CMTX5), hereditary sensory neuropathy type 3 (HSAN3), Friedreich's ataxia, leukodystrophies, sphingolipidoses, ceroid-..
  36. pmc Ribose-phosphate pyrophosphokinase 1 (PRPS1) associated with deltamethrin resistance in Culex pipiens pallens
    Shanchao Hong
    Department of Pathogen Biology, Nanjing Medical University, 140 Hanzhong Road, Nanjing, Jiangsu 210029, People s Republic of China
    Parasitol Res 112:847-54. 2013
    Ribose-phosphate pyrophosphokinase 1 (PRPS1) was identified and isolated as a differentially expressed gene between deltamethrin-susceptible (DS) and deltamethrin-resistant (DR) Culex pipiens pallens and Aedes albopictus C6/36 cell line ..
  37. ncbi Topography, cytoarchitecture, and cellular phenotypes of cortical areas that form the cingulo-parahippocampal isthmus and adjoining retrocalcarine areas in the monkey
    Song Lin Ding
    Department of Anatomy and Cell Biology, The University of Iowa, Iowa City, Iowa 52242, USA
    J Comp Neurol 456:184-201. 2003
    ..These include the presubiculum of the isthmus (PrSi), parasubiculum of the isthmus (PaSi), area 29 of the isthmus (area 29i) and area prostriata (Pro), which has ..
  38. ncbi Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene
    B J Roessler
    Department of Internal Medicine, University of Michigan, Ann Arbor 48109
    J Biol Chem 268:26476-81. 1993
    ..Normal, N. B., and S. M. PRS1 cDNAs were introduced into Escherichia coli BL21 (DE3)/pLyS, and recombinant N. B. and S. M. PRS1s showed the purine nucleotide feedback resistance phenotypes characteristic of PRS from patients' cells...
  39. ncbi Mapping of DFN2 to Xq22
    J Tyson
    Unit of Clinical Genetics, Institute of Child Health, London, UK
    Hum Mol Genet 5:2055-60. 1996
    ..b>DFN2 represents a locus for congenital profound sensorineural hearing loss that has yet to be mapped...
  40. ncbi Promoter regions of the human X-linked housekeeping genes PRPS1 and PRPS2 encoding phosphoribosylpyrophosphate synthetase subunit I and II isoforms
    T Ishizuka
    Department of Biochemistry, Chiba University School of Medicine, Japan
    Biochim Biophys Acta 1130:139-48. 1992
    The 5' regions of the human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2, respectively) were isolated and sequenced...
  41. ncbi Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood
    H Kremer
    Dept of Human Genetics, University Hospital Nijmegen, The Netherlands
    Hum Genet 98:513-7. 1996
    ..However, no mutations were found in the protein-coding part of this gene...
  42. ncbi Refinement of the locus for non-syndromic sensorineural deafness (DFN2)
    Bin Cui
    Health Science Center, Shanghai Institutes for Biological Sciences, Shanghai Second Medical University, 225 South Chong Qing Road, Shanghai 200025, People s Republic of China
    J Genet 83:35-8. 2004
    ..All phenotypes of this family are clinically compatible with non-syndromic sensorineural deafness (DFN2). A maximum two-point Lod score of 2.32 was obtained at marker DXS6797 (theta = 0.00)...
  43. ncbi Different oligomeric states are involved in the allosteric behavior of uracil phosphoribosyltransferase from Escherichia coli
    K F Jensen
    Center for Enzyme Research, Institute of Molecular Biology, University of Copenhagen, Denmark
    Eur J Biochem 240:637-45. 1996
    ..catalyzing the formation of UMP and pyrophosphate from uracil and 5-phosphoribosyl-alpha-1-diphosphate (PPRibP), was purified from an overproducing strain of Escherichia coli...
  44. ncbi Cardiovascular risk modification in the college student: knowledge, attitudes, and behaviors
    R Frost
    Champlain Valley Physicians Hospital, Plattsburgh, New York
    J Gen Intern Med 7:317-20. 1992
    ..DESIGN: Cross-sectional survey. SETTING: Four-year public liberal arts college. PARTICIPANTS: 1,503 students returning a questionnaire (response rate of 60.4%)...
  45. ncbi Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families
    T Sonoda
    Department of Biochemistry, Chiba University School of Medicine
    J Biochem 109:361-4. 1991
    cDNA clones for human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) were isolated from a glioblastoma cell line MGC 1 cDNA library. The longest clone contained 2,075 base pairs (bp) almost covering the 2...
  46. ncbi Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes
    M A Becker
    Department of Medicine, University of Chicago, Illinois 60637
    Genomics 8:555-61. 1990
    ..synthetase (PRS) 1 and PRS 2 cDNAs were utilized as probes to localize the corresponding human PRPS1 and PRPS2 genes, previously reported to be X chromosome linked...
  47. ncbi Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase
    M A Becker
    Rheumatology Section, Department of Medicine, University of Chicago, Chicago, Illinois 60637, USA
    J Biol Chem 271:19894-9. 1996
    ..Normal and patient PRPS1 transcribed but untranslated DNA sequences were also identical...
  48. ncbi The arts of war and medicine: a study in symbiosis
    S W Lacey
    University of Texas Southwestern Medical Center, Dallas 75235-8887
    Am J Med Sci 305:407-20. 1993
    ..This treatise focuses, therefore, on the symbiotic advances in warfare on health before this century because death in war due to trauma was statistically far less important than death due to disease...
  49. ncbi Linkage of phosphoribosylpyrophosphate synthetases 1 and 2, Prps1 and Prps2, on the mouse X chromosome
    K Lee
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263
    Mamm Genome 5:612-5. 1994
    The X Chromosome (Chr) genes for phosphoribosylpyrophosphate synthetases 1 and 2, Prps1 and Prps2, were mapped on the mouse X Chr with interspecific backcrosses between C57BL/6 (B6) and M. spretus (S)...
  50. pmc The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity
    M A Becker
    Department of Medicine, University of Chicago, Illinois 60637, USA
    J Clin Invest 96:2133-41. 1995
    ..analysis of recombinant mutant PRS1s showed that widely dispersed point mutations in the X chromosome-linked PRPS1 gene encoding the PRS1 isoform result in alteration of the allosteric mechanisms regulating both enzyme inhibition ..
  51. ncbi Human phosphoribosylpyrophosphate synthetase. Distribution, purification, and properties
    I H Fox
    J Biol Chem 246:5739-48. 1971
  52. ncbi Structure of the rat PRPS1 gene encoding phosphoribosylpyrophosphate synthetase subunit I
    H Shimada
    Department of Biochemistry, Chiba University School of Medicine, Japan
    J Biol Chem 265:3956-60. 1990
    Phosphoribosylpyrophosphate (PP-Rib-P) synthetase (EC 2.7.6.1) subunit I gene (PRPS1) is constitutively expressed in various tissues (Taira, M., Iizasa, T., Yamada, K., Shimada, H., and Tatibana, M. (1989) Biochim. Biophys...
  53. pmc Cloning of two distinct copies of human phosphoribosylpyrophosphate synthetase cDNA
    B J Roessler
    Multipurpose Arthritis Center, Rackham Arthritis Research Unit, University of Michigan Medical School, Ann Arbor 48109
    Nucleic Acids Res 18:193. 1990
  54. ncbi Nucleotide and deduced amino acid sequences of two distinct cDNAs for rat phosphoribosylpyrophosphate synthetase
    M Taira
    Department of Biochemistry, Chiba University, School of Medicine, Japan
    J Biol Chem 262:14867-70. 1987
    ..data, suggest the existence of two different subunits of this enzyme, designated as PRS I and II (their genes as PRPS1 and PRPS2). Transcripts of 2.3 and 3...
  55. ncbi Tissue-differential expression of two distinct genes for phosphoribosyl pyrophosphate synthetase and existence of the testis-specific transcript
    M Taira
    Department of Biochemistry, Chiba University School of Medicine, Japan
    Biochim Biophys Acta 1007:203-8. 1989
    Cloning of cDNA coding for rat phosphoribosyl pyrophosphate (PPRibP) synthetase (EC 2.7.6.1) revealed two distinct types of subunit, referred to as PRS I and PRS II (Taira et al. (1987) J. Biol. Chem. 262, 14867-14870)...
  56. ncbi 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
    M Taira
    Department of Biochemistry, Chiba University School of Medicine, Japan
    Somat Cell Mol Genet 15:29-37. 1989
    Complementary DNA clones for phosphoribosylpyrophosphate synthetase subunits I and II (PRS I and PRS II) were used to determine the chromosomal localization of the corresponding human genes...
  57. pmc Renal hypertrophy in experimental diabetes. The activity of the 'de novo' and salvage pathways of purine [corrected] synthesis
    S Kunjara
    Department of Biochemistry, Pramongkutklao College of Medicine, Bangkok, Thailand
    Biochem J 249:911-4. 1988
    Measurements were made of the activity of phosphoribosyl pyrophosphate amidotransferase (PPRibP-At, EC 2.4.2.14) and of adenine (APRT, EC 2.4.2.7) and hypoxanthine (HPRT, EC 2.4.2...
  58. ncbi A human testis-specific mRNA for phosphoribosylpyrophosphate synthetase that initiates from a non-AUG codon
    M Taira
    Department of Biochemistry, Chiba University School of Medicine, Japan
    J Biol Chem 265:16491-7. 1990
    Two highly homologous subunits for phosphoribosylpyrophosphate synthetase are encoded by human X-linked genes, PRPS1 and PRPS2 (Taira, M., Kudoh, J., Minoshima, S., Iizasa, T., Shimada, H., Shimizu, Y., Tatibana, M., and Shimizu, N...
  59. ncbi Secondary structural effects on protein NMR chemical shifts
    Yunjun Wang
    Mesolight, LLC, Fayetteville, AR, 72704, USA
    J Biomol NMR 30:233-44. 2004
    ..It provides some useful insights into understanding protein chemical shifts and suggests a new route to improving chemical shifts prediction. The RSS surfaces were incorporated into the program PRSI.
  60. pmc Identification of a novel p300-specific-associating protein, PRS1 (phosphoribosylpyrophosphate synthetase subunit 1)
    Atsushi Kaida
    Department of Viral Oncology, Institute for Virus Research, Kyoto University, Sakyo ku, Kyoto 606 8507, Japan
    Biochem J 391:239-47. 2005
    ..This is the first report to demonstrate the existence of a p300 KIX-domain-specific-interacting protein that does not interact with CBP. Thus p300 may play a role in the regulation of DNA synthesis through interactions with PRS1...
  61. ncbi A novel locus for X-linked recessive CMT with deafness and optic neuropathy maps to Xq21.32-q24
    H J Kim
    Department of Laboratory Medicine, Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea
    Neurology 64:1964-7. 2005
    ..32-q24 with the maximum lod score at DXS8077 (3.62, theta = 0.00). This locus does not overlap previously identified four loci for X-linked CMT, and the authors propose it as CMTX5.
  62. pmc Expression, purification, crystallization and preliminary X-ray diffraction analysis of human phosphoribosyl pyrophosphate synthetase 1 (PRS1)
    Wenying Tang
    Hefei National Laboratory for Physical Sciences at Microscale and School of Life Sciences, University of Science and Technology of China, 96 Jinzhai Road, Hefei, Anhui 230027, People s Republic of China
    Acta Crystallogr Sect F Struct Biol Cryst Commun 62:432-4. 2006
    ..846, c = 61.857 angstroms, assuming two molecules in the asymmetric unit and a volume-to-weight ratio of 2.4 angstroms3 Da(-1), which was consistent with the result calculated from the self-rotation function...
  63. ncbi Predicting 15N chemical shifts in proteins using the preceding residue-specific individual shielding surfaces from phi, psi i-1, and chi 1 torsion angles
    Yunjun Wang
    Deapertment of Molecular Pharmacology, Stanford University, CA 94305 5174, USA
    J Biomol NMR 28:327-40. 2004
    ..Accordingly, 380 empirical 'Preceding Residue Specific Individual (PRSI)' (15)N chemical shift shielding surfaces, representing all the combinations of X and Y (except for Y=Pro), were ..
  64. ncbi Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acid overproduction in a young woman
    Pablo Garcia-Pavia
    La Paz University Hospital, Madrid, Spain
    Arthritis Rheum 48:2036-41. 2003
    ..allosteric regulation of PRS activity, which is, in turn, a consequence of a mutation in one of the patient's PRPS1 genes: an A-to-T substitution at nucleotide 578, encoding leucine for histidine at amino acid residue 192 of the ..
  65. ncbi [Increased activity of PRPP synthetase]
    Taizo Iizasa
    Department of Internal Medicine, Itoh Municipal Hospital
    Nihon Rinsho 66:694-8. 2008
    ..Human PRPP synthetase exists as heterogeneous aggregates composed of the 34kDa catalytic subunits (PRSI and PRSII) and other 39kDa and 41kDa components designated PRPP synthetase-associated protein (PAP39 and PAP41)...
  66. pmc Staging of portal hypertension and portosystemic shunts using dynamic nuclear medicine investigations
    Mircea Dragoteanu
    Department of Nuclear Medicine, Clinical Emergency Hospital, Prof Dr Octavian Fodor, Cluj Napoca, Romania
    World J Gastroenterol 14:3841-8. 2008
    ..To explore portal hypertension and portosystemic shunts and to stage chronic liver disease (CLD) based on the pathophysiology of portal hemodynamics...
  67. ncbi Stress and methods of dealing with it among students of Arts Departments at the UMCS
    D Zołnierczuk-Kieliszek
    Miedzywydziałowa Katedra i Zakład Zdrowia Publicznego, Akademii Medycznej w Lublinie
    Ann Univ Mariae Curie Sklodowska Med 54:235-40. 1999
    ..The research results were confronted with similar survey carried out among students of the Faculty of Medicine at Medical University...
  68. ncbi Photoelectron spectroscopy of lanthanide-silicon cluster anions LnSi(n)(-) (3 <or= n <or= 13; Ln = Ho, Gd, Pr, Sm, Eu, Yb): prospect for magnetic silicon-based clusters
    Andrej Grubisic
    Department of Chemistry, Johns Hopkins University, Baltimore, Maryland 21218, USA
    J Am Chem Soc 131:10783-90. 2009
    ..and EuSi(n)(-) are nearly identical to each other, while in the other the spectra of GdSi(n)(-), HoSi(n)(-), and PrSi(n)(-) are essentially identical...
  69. ncbi [Systems of biomedical information on the internet: bibliographic contents and electronic magazines]
    M Belmonte
    , ,
    Rev Neurol 29:471-8. 1999
    ..Contents, a classic in this field, much appreciated by scientists in all areas: medicine, social, technology, arts and humanities...
  70. ncbi Pierre Auger--a life in the service of science
    L Persson
    Division of Nuclear Safety, IAEA, Vienna, Austria
    Acta Oncol 35:785-7. 1996
    ..research, diplomatic services and pedagogics but also extended into modern biology, humanistic sciences, poetry and arts. Part of a speech in Paris of professor Auger held in 1989 on the theme 'Research and Creativity' at an ..
  71. ncbi Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase
    M Ahmed
    Rheumatology Section, Department of Medicine, The University of Chicago, Chicago, Illinois 60637, USA
    J Biol Chem 274:7482-8. 1999
    ..PRS1 transcript and isoform, suggesting that this form of the disorder involves pretranslational dysregulation of PRPS1 expression and might be more appropriately termed overactivity of normal PRS...
  72. doi Molecular analysis of two enzyme genes, HPRT1 and PRPS1, causing X-linked inborn errors of purine metabolism
    Y Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Kasugai, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 29:291-4. 2010
    ..On the other hand, PRPS1 mutations cause PRPP synthetase superactivity associated with hyperuricemia and gout, sometimes including ..
  73. ncbi Partial reconstitution of mammalian phosphoribosylpyrophosphate synthetase in Escherichia coli cells. Coexpression of catalytic subunits with the 39-kDa associated protein leads to formation of soluble multimeric complexes of various compositions
    S Ishijima
    Department of Biochemistry, Chiba University School of Medicine, Japan
    Biochim Biophys Acta 1342:28-36. 1997
    ..phosphoribosylpyrophosphate (PRPP) synthetase exists as complex aggregates composed of 34-kDa catalytic subunits (PRS I and PRS II) and homologous 39- and 41-kDa proteins termed PRPP synthetase-associated proteins (PAPs)...
  74. doi The PRPP synthetase spectrum: what does it demonstrate about nucleotide syndromes?
    John A Duley
    University of Queensland and Mater Medical Research Institute, Brisbane, Australia
    Nucleosides Nucleotides Nucleic Acids 30:1129-39. 2011
    Defects in X-linked phosphoribosylpyrophosphate synthetase 1 (PRPS1) manifest as follows: (1) PRS-I enzyme "superactivity" (gain-of-function mutations affecting allosteric regions); (2) PRS-I overexpression (which may be linked to miRNA ..
  75. doi Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations
    Yasukazu Yamada
    Department of Genetics, Institute for Developmental Research, Aichi Human Service Center, Aichi, Japan
    Nucleosides Nucleotides Nucleic Acids 30:1272-5. 2011
    Mutations of two enzyme genes, HPRT1 encoding hypoxanthine guanine phosphoribosyltransferase (HPRT) and PRPS1 encoding a catalytic subunit (PRS-I) of phosphoribosylpyrophosphate synthetase, cause X-linked inborn errors of purine ..
  76. ncbi [[(Me3Si)2CH]2(i)PrSi(NHC)Si═Si(Me)Si(i)Pr[CH(SiMe3)2]2]+: a molecule with disilenyl cation character
    Torahiko Yamaguchi
    Department of Chemistry, Graduate School of Pure and Applied Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8571, Japan
    J Am Chem Soc 134:886-9. 2012
    ..The molecular structure indicates that there are significant contributions from the NHC-stabilized cationic resonance structure 2A, the disilene-like structure 2B, and even some contribution from the silylene-like structure 2C...
  77. ncbi Nonsyndromic X-linked hearing loss
    Mee Hyun Song
    Department of Otorhinolaryngology, Kwandong University College of Medicine, Goyang, South Korea
    Front Biosci (Elite Ed) 4:924-33. 2012
    ..DFN3, DFN4, and DFN6) had been implicated in nonsyndromic X-linked hearing loss; however, a new classification (DFNX1-5) has been proposed to reduce confusion in the terminology...
  78. ncbi Requirement for protein synthesis during embryonic genome activation in mice
    Q Wang
    Fels Institute for Cancer Research and Molecular Biology, Philadelphia, Pennsylvania, USA
    Mol Reprod Dev 47:265-70. 1997
    ..synthesis is required for the transcriptional activation of six housekeeping genes (U2afbp-rs, Hprt, Pdha1, Prps1, Odc, and Cox7c)...

Research Grants2

  1. REGULATION OF PURINE NUCLEOTIDE SYNTHESIS IN HUMANS
    Michael Becker; Fiscal Year: 2001
    ..synthesis in differentiated human cell lines representative of tissues showing differential expression of PRPS1 and/or PRPS2 transcript abundance...
  2. SEARCH FOR NEW GENES CAUSING NON-SYNDROMIC DEAFNESS
    Xue Liu; Fiscal Year: 2002
    ..This knowledge is an essential prerequisite to the development and provision of molecular diagnostic services for families with NSHL, as well as the further delineation of the functional genomics of the cochlea. ..