| 1 | PRPS1
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| Down-Regulation of Phosphoribosyl Pyrophosphate Synthetase 1 Inhibits Neuroblastoma Cell Proliferation.
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| Li J, Ye J, Zhu S, Cui H.
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| Cells 8(9). pii: E955. doi: 10.3390/cells8090955.
2019
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| 2 | CMTX5, PRPS1
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| A novel mutation in PRPS1 gene causes X-linked Charcot-Marie-Tooth disease-5.
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| Meng L, Wang K, Lv H, Wang Z, Zhang W, Yuan Y.
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| Neuropathology europathology. 2019 Aug 21. doi: 10.1111/neup.12589. [Epub ahead of print]
2019
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| 3 | PRPS1
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| Cell cycle-dependent phosphorylation of PRPS1 fuels nucleotide synthesis and promotes tumorigenesis.
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| Jing X, Wang XJ, Zhang T, Zhu W, Fang Y, Wu H, Liu X, Ma D, Ji X, Jiang Y, Liu K, Chen X, Shi Y, Zhang Y, Shi M, Qiu W, Zhao R.
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| Cancer Res ancer Res. 2019 Jun 28. pii: canres.2486.2018. doi: 10.1158/0008-5472.CAN-18-2486. [Epub ahead of print]
2019
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| 4 | CMTX5, PRPS1
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| A profound computational study to prioritize the disease-causing mutations in PRPS1 gene.
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| Agrahari AK, Sneha P, George Priya Doss C, Siva R, Zayed H.
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| Metab Brain Dis 33(2):589-600. doi: 10.1007/s11011-017-0121-2. Epub 2017 Oct 18.
2018
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| 5 | PRPS1
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| Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.
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| Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.
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| Hum Mutat 39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.
2018
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| 6 | PRPS1
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| Additive reductions in zebrafish PRPS1 activity result in a spectrum of deficiencies modeling several human PRPS1-associated diseases.
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| Pei W, Xu L, Varshney GK, Carrington B, Bishop K, Jones M, Huang SC, Idol J, Pretorius PR, Beirl A, Schimmenti LA, Kindt KS, Sood R, Burgess SM.
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| Sci Rep 6:29946. doi: 10.1038/srep29946.
2016
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| 7 | DFN2, PRPS1
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| Mutations in PRPS1 causing syndromic or nonsyndromic hearing impairment: intrafamilial phenotypic variation complicates genetic counseling.
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| Gandía M, Fernández-Toral J, Solanellas J, Domínguez-Ruiz M, Gómez-Rosas E, Del Castillo FJ, Villamar M, Moreno-Pelayo MA, Del Castillo I.
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| Pediatr Res 78(1):97-102. doi: 10.1038/pr.2015.56. Epub 2015 Mar 18.
2015
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| 8 | PRPS1
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| Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.
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| Almoguera B, He S, Corton M, Fernandez-San Jose P, Blanco-Kelly F, López-Molina MI, García-Sandoval B, Del Val J, Guo Y, Tian L, Liu X, Guan L, Torres RJ, Puig JG, Hakonarson H, Xu X, Keating B, Ayuso C.
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| Orphanet J Rare Dis 9:190. doi: 10.1186/s13023-014-0190-9.
2014
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| 9 | ARTS, PRPS1
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| 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.
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| Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L.
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| Orphanet J Rare Dis 9:24. doi: 10.1186/1750-1172-9-24.
2014
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| 10 | PRPS1
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| Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
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| Moran R, Kuilenburg AB, Duley J, Nabuurs SB, Retno-Fitri A, Christodoulou J, Roelofsen J, Yntema HG, Friedman NR, van Bokhoven H, de Brouwer AP.
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| Am J Med Genet A 158A(2):455-60. doi: 10.1002/ajmg.a.34428. Epub 2012 Jan 13.
2012
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| 11 | HPRT1, PRPS1
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| Molecular analysis of X-linked inborn errors of purine metabolism: HPRT1 and PRPS1 mutations.
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| Yamada Y, Yamada K, Nomura N, Yamano A, Kimura R, Naiki M, Fukushi D, Wakamatsu N, Taniguchi A, Yamaoka N, Kaneko K, Fujimori S.
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| Nucleosides Nucleotides Nucleic Acids 30(12):1272-5. doi: 10.1080/15257770.2011.597369.
2011
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| 12 | DFN2, PRPS1
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| Novel autosomal recessive nonsyndromic hearing impairment locus DFNB90 maps to 7p22.1-p15.3.
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| Ali G, Lee K, Andrade PB, Basit S, Santos-Cortez RL, Chen L, Jelani M, Ansar M, Ahmad W, Leal SM.
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| Hum Hered 71(2):106-12. doi: 10.1159/000320154. Epub 2011 Jul 6.
2011
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| 13 | DFN2, PRPS1
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| Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.
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| Liu X, Han D, Li J, Han B, Ouyang X, Cheng J, Li X, Jin Z, Wang Y, Bitner-Glindzicz M, Kong X, Xu H, Kantardzhieva A, Eavey RD, Seidman CE, Seidman JG, Du LL, Chen ZY, Dai P, Teng M, Yan D, Yuan H.
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| Am J Hum Genet 86(1):65-71.PMID: 20021999 2010
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| 14 | ARTS, CMTX5, DFN2, PRPS1
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| PRPS1 mutations: four distinct syndromes and potential treatment.
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| de Brouwer AP, van Bokhoven H, Nabuurs SB, Arts WF, Christodoulou J, Duley J.
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| Am J Hum Genet 86(4):506-18. Review.PMID: 20380929 2010
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| 15 | PRPS1
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| N114S mutation causes loss of ATP-induced aggregation of human phosphoribosylpyrophosphate synthetase 1.
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| Liu H, Peng X, Zhao F, Zhang G, Tao Y, Luo Z, Li Y, Teng M, Li X, Wei S.
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| Biochem Biophys Res Commun 379(4):1120-5. Epub 2009 Jan 20.
2009
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| 16 | PRPS1, TRPS1
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| Dynamic expression of the zinc-finger transcription factor Trps1 during hair follicle morphogenesis and cycling.
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| Fantauzzo KA, Bazzi H, Jahoda CA, Christiano AM.
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| Gene Expr Patterns 8(2):51-7. Epub 2007 Oct 25. 2008
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| 17 | CMTX5,PRPS1
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| 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).
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| Kim HJ, Sohn KM, Shy ME, Krajewski KM, Hwang M, Park JH, Jang SY, Won HH, Choi BO, Hong SH, Kim BJ, Suh YL, Ki CS, Lee SY, Kim SH, Kim JW.
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| Am J Hum Genet 81(3):552-8. Epub 2007 Jun 29. 2007
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| 18 | ARTS,PRPS1
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| Arts Syndrome Is Caused by Loss-of-Function Mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-518. Epub 2007 Aug 3. 2007
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| 19 | ARTS, CMTX5, DFN2, PRPS1
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| Arts syndrome is caused by loss-of-function mutations in PRPS1.
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| de Brouwer AP, Williams KL, Duley JA, van Kuilenburg AB, Nabuurs SB, Egmont-Petersen M, Lugtenberg D, Zoetekouw L, Banning MJ, Roeffen M, Hamel BC, Weaving L, Ouvrier RA, Donald JA, Wevers RA, Christodoulou J, van Bokhoven H.
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| Am J Hum Genet 81(3):507-18. Epub 2007 Aug 3.PMID: 17701896 2007
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| 20 | EP300,PRPS1
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| Identification of a novel p300-specific-associating protein, PRS1 (phosphoribosylpyrophosphate synthetase subunit 1).
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| Kaida A, Ariumi Y, Baba K, Matsubae M, Takao T, Shimotohno K.
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| Biochem J 391(Pt 2):239-47. 2005
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| 21 | PRPS1
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| Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase.
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| Ahmed M, Taylor W, Smith PR, Becker MA.
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| J Biol Chem 274(11):7482-8. 1999
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| 22 | PRPS1, PRPS2
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| The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.
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| Becker MA, et al.
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| J Clin Invest 96 : 2133-2141. 1995
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| 23 | PRPS1,PRPS2
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| Mammalian phosphoribosyl-pyrophosphate synthetase.
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| Tatibana M, Kita K, Taira M, Ishijima S, Sonoda T, Ishizuka T, Iizasa T, Ahmad I.
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| Adv Enzyme Regul 35:229-49. Review. 1995
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| 24 | PRPS1
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| Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.
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| Roessler BJ, et al.
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| J Biol Chem 268 : 26476-26481. 1993
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| 25 | PRPS1
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| Identification of distinct PRS1 mutations in two patients with X-linked phosphoribosyl-pyrophosphate synthetase superactivity.
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| Roessler BJ, et al.
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| Adv Exp Med Biol 309B : 125-128. 1991
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| 26 | PRPS1
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| Complete nucleotide sequence of human phosphoribosyl pyrophosphate synthetase subunit I (PRS I) cDNA and a comparison with human and rat PRPS gene families.
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| Sonoda T, Taira M, Ishijima S, Ishizuka T, Iizasa T, Tatibana M.
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| J Biochem 109(2):361-4.PMID: 1650777 1991
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| 27 | PRPS1, PRPS2, PRPS1L2
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| Cloning of cDNAs for human phosphoribosylpyrophosphate synthetases 1 and 2 and X chromosome localization of PRPS1 and PRPS2 genes.
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| Becker MA, et al.
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| Genomics 8 : 555-561. 1990
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| 28 | PRPS1, PRPS2, PRPS1L1, PRPS1L2
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| Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRSP1-related genes to autosomes.
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| Taira M, et al.
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| Somat Cell Mol Genet 15 : 29-37. 1989
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| 29 | PRPS1, PRPS2
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| Chromosomal localization of the human genes for phosphoribosyl pyrophosphate synthetase subunits I and II.
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| Taira M, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 702. 1987
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| 30 | PRPS1
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| Regional localization of the gene for human phophoribosylpyrophosphate synthetase on the X chromosome.
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| Becker MA, et al.
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| Science 203 : 1016-1019. 1979
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| 31 | PRPS1, PRPS2
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| Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.
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| Becker MA, et al.
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| Proc Natl Acad Sci U S A 70 : 2749-2752. 1973
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| 32 | PRPS1, PRPS2
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| Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout.
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| Sperling O, et al.
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| Biochem Med 7 : 389-395. 1973
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