Citations for
Ubiquitin ligase gp78 targets unglycosylated prion protein PrP for ubiquitylation and degradation.
Shao J, Choe V, Cheng H, Tsai YC, Weissman AM, Luo S, Rao H.
PLoS One 9(4):e92290. doi: 10.1371/journal.pone.0092290. eCollection 2014. 2014
BECN1/Beclin 1 is recruited into lipid rafts by prion to activate autophagy in response to amyloid β 42.
Nah J, Pyo JO, Jung S, Yoo SM, Kam TI, Chang J, Han J, Soo A An S, Onodera T, Jung YK.
Autophagy 9(12):2009-21. 2013
IGF-1-induced enhancement of PRNP expression depends on the negative regulation of transcription factor FOXO3a.
Liu T, Yi W, Feng B, Zhou Z, Xiao G.
PLoS One 8(8):e71896. doi: 10.1371/journal.pone.0071896. eCollection 2013. 2013
The prion protein unstructured N-terminal region is a broad-spectrum molecular sensor with diverse and contrasting potential functions.
Béland M, Roucou X.
J Neurochem. 120(6):853-68. 2012
Amyloid Beta precursor protein and prion protein have a conserved interaction affecting cell adhesion and CNS development.
Kaiser DM, Acharya M, Leighton PL, Wang H, Daude N, Wohlgemuth S, Shi B, Allison WT.
PLoS One. 7(12):e51305 2012
PrPC interacts with potassium channel tetramerization domain containing 1 (KCTD1) protein through the PrP(51-136) region containing octapeptide repeats.
Huang T, Xu J, Xiang J, Lu Y, Chen R, Huang L, Xiao G, Sun G.
Biochem Biophys Res Commun 417(1):182-6. doi: 10.1016/j.bbrc.2011.11.081. Epub 2011 Nov 25. 2012
Cellular prion protein regulates its own α-cleavage through ADAM8 in skeletal muscle.
Liang J, Wang W, Sorensen D, Medina S, Ilchenko S, Kiselar J, Surewicz WK, Booth SA, Kong Q.
J Biol Chem 287(20):16510-20. doi: 10.1074/jbc.M112.360891. Epub 2012 Mar 23. 2012
Establishment and characterization of Prnp knock-down neuroblastoma cells using dual microRNA-mediated RNA interference.
Kang SG, Roh YM, Lau A, Westaway D, McKenzie D, Aiken JM, Kim YS, Yoo HS.
Prion 5(2). [Epub ahead of print] 2011
Familial prion disease with alzheimer disease-like tau pathology and clinical phenotype.
Jayadev S, Nochlin D, Poorkaj P, Steinbart EJ, Mastrianni JA, Montine TJ, Ghetti B, Schellenberg GD, Bird TD, Leverenz JB.
Ann Neurol nn Neurol. 2011 Mar 17. doi: 10.1002/ana.22264. [Epub ahead of print] 2011
Gerstmann-Straussler-Scheinker disease due to a novel prion protein gene mutation.
Hinnell C, Coulthart MB, Jansen GH, Cashman NR, Lauzon J, Clark A, Costello F, White C, Midha R, Wiebe S, Furtado S.
Neurology 76(5):485-7. No abstract available. 2011
Stable kinesin and dynein assemblies drive the axonal transport of mammalian prion protein vesicles.
Encalada SE, Szpankowski L, Xia CH, Goldstein LS.
Cell 144(4):551-65. 2011
Crucial role for prion protein membrane anchoring in the neuroinvasion and neural spread of prion infection.
Klingeborn M, Race B, Meade-White KD, Rosenke R, Striebel JF, Chesebro B.
J Virol 85(4):1484-94. Epub 2010 Dec 1. 2011
Enhanced susceptibility of T lymphocytes to oxidative stress in the absence of the cellular prion protein.
Aude-Garcia C, Villiers C, Candéias SM, Garrel C, Bertrand C, Collin V, Marche PN, Jouvin-Marche E.
Cell Mol Life Sci 68(4):687-96. Epub 2010 Aug 18. 2011
Cellular prion protein conformation and function.
Damberger FF, Christen B, Pérez DR, Hornemann S, Wüthrich K.
Proc Natl Acad Sci U S A 108(42):17308-13. Epub 2011 Oct 10. 2011
Hsp70 binds to PrPC in the process of PrPC release via exosomes from THP-1 monocytes.
Wang GH, Zhou XM, Bai Y, Yin XM, Yang LF, Zhao D.
Cell Biol Int. 35(6):553-8. 2011
The prion protein binds thiamine.
Perez-Pineiro R, Bjorndahl TC, Berjanskii MV, Hau D, Li L, Huang A, Lee R, Gibbs E, Ladner C, Dong YW, Abera A, Cashman NR, Wishart DS.
FEBS J. 278(21):4002-14 2011
Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutations.
Chen W, van der Kamp MW, Daggett V.
Biochemistry 49(45):9874-81. Epub 2010 Oct 22. 2010
Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding.
van der Kamp MW, Daggett V.
J Mol Biol 404(4):732-48. Epub 2010 Oct 7. 2010
Enhancement of phagocytotic activity by prion protein in PrP-deficient macrophage cells.
Uraki R, Sakudo A, Ando S, Kitani H, Onodera T.
Int J Mol Med 26(4):527-32. 2010
Characterization of the role of dendritic cells in prion transfer to primary neurons.
Langevin C, Gousset K, Costanzo M, Richard-Le Goff O, Zurzolo C.
Biochem J 431(2):189-98. 2010
Prion protein interaction with stress-inducible protein 1 enhances neuronal protein synthesis via mTOR.
Roffé M, Beraldo FH, Bester R, Nunziante M, Bach C, Mancini G, Gilch S, Vorberg I, Castilho BA, Martins VR, Hajj GN.
Proc Natl Acad Sci U S A 107(29):13147-52. Epub 2010 Jul 6. 2010
Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer.
Antonacopoulou AG, Palli M, Marousi S, Dimitrakopoulos FI, Kyriakopoulou U, Tsamandas AC, Scopa CD, Papavassiliou AG, Kalofonos HP.
Mol Carcinog 49(7):693-9. 2010
Role of the highly conserved middle region of prion protein (PrP) in PrP-lipid interaction.
Wang F, Yin S, Wang X, Zha L, Sy MS, Ma J.
Biochemistry 49(37):8169-76. 2010
Axonal prion protein is required for peripheral myelin maintenance.
Bremer J, Baumann F, Tiberi C, Wessig C, Fischer H, Schwarz P, Steele AD, Toyka KV, Nave KA, Weis J, Aguzzi A.
Nat Neurosci. 13(3):310-8. 2010
Anionic phospholipid interactions of the prion protein N terminus are minimally perturbing and not driven solely by the octapeptide repeat domain.
Boland MP, Hatty CR, Separovic F, Hill AF, Tew DJ, Barnham KJ, Haigh CL, James M, Masters CL, Collins SJ.
J Biol Chem. 285(42):32282-92. 2010
Memory impairment in transgenic Alzheimer mice requires cellular prion protein.
Gimbel DA, Nygaard HB, Coffey EE, Gunther EC, Laurén J, Gimbel ZA, Strittmatter SM
J Neurosci. 30(18):6367-74. 2010
Complement protein C1q forms a complex with cytotoxic prion protein oligomers.
Erlich P, Dumestre-Pérard C, Ling WL, Lemaire-Vieille C, Schoehn G, Arlaud GJ, Thielens NM, Gagnon J, Cesbron JY.
J Biol Chem 285(25):19267-76. doi: 10.1074/jbc.M109.071860. Epub 2010 Apr 21. 2010
Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1.
Bellingham SA, Coleman LA, Masters CL, Camakaris J, Hill AF.
J Biol Chem 284(2):1291-301. Epub 2008 Nov 6. 2009
Characterization of a specific interaction between ADAM23 and cellular prion protein.
Costa MD, Paludo KS, Klassen G, Lopes MH, Mercadante AF, Martins VR, Camargo AA, Nakao LS, Zanata SM.
Neurosci Lett 461(1):16-20. Epub 2009 May 27.PMID: 19477226 2009
Activation and repression of prion protein expression by key regions of intron 1.
Wright JA, McHugh PC, Stockbridge M, Lane S, Kralovicova S, Brown DR.
Cell Mol Life Sci 66(23):3809-20.PMID: 19756378 2009
Neuroglobin and prion cellular localization: investigation of a potential interaction.
Lechauve C, Rezaei H, Celier C, Kiger L, Corral-Debrinski M, Noinville S, Chauvierre C, Hamdane D, Pato C, Marden MC.
J Mol Biol 388(5):968-77. Epub 2009 Mar 24. 2009
Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers.
Laurén J, Gimbel DA, Nygaard HB, Gilbert JW, Strittmatter SM.
Nature. 457(7233):1128-32. 2009
Characterization of truncated forms of abnormal prion protein in Creutzfeldt-Jakob disease.
Notari S, Strammiello R, Capellari S, Giese A, Cescatti M, Grassi J, Ghetti B, Langeveld JP, Zou WQ, Gambetti P, Kretzschmar HA, Parchi P.
J Biol Chem 283(45):30557-65. Epub 2008 Aug 27. 2008
Association of a null allele of SPRN with variant Creutzfeldt-Jakob disease.
Beck JA, Campbell TA, Adamson G, Poulter M, Uphill JB, Molou E, Collinge J, Mead S.
J Med Genet 45(12):813-7. Epub 2008 Sep 19. 2008
Human cellular prion protein interacts directly with clusterin protein.
Xu F, Karnaukhova E, Vostal JG
Biochim Biophys Acta. 1782(11):615-20. 2008
Prion protein complexed to N2a cellular RNAs through its N-terminal domain forms aggregates and is toxic to murine neuroblastoma cells.
Gomes MP, Millen TA, Ferreira PS, e Silva NL, Vieira TC, Almeida MS, Silva JL, Cordeiro Y.
J Biol Chem. 283(28):19616-25. 2008
LRP1 controls biosynthetic and endocytic trafficking of neuronal prion protein.
Parkyn CJ, Vermeulen EG, Mootoosamy RC, Sunyach C, Jacobsen C, Oxvig C, Moestrup S, Liu Q, Bu G, Jen A, Morris RJ.
J Cell Sci. 121(Pt 6):773-83. 2008
The CNS glycoprotein Shadoo has PrP(C)-like protective properties and displays reduced levels in prion infections.
Watts JC, Drisaldi B, Ng V, Yang J, Strome B, Horne P, Sy MS, Yoong L, Young R, Mastrangelo P, Bergeron C, Fraser PE, Carlson GA, Mount HT, Schmitt-Ulms G, Westaway D.
EMBO J 26(17):4038-50. Epub 2007 Aug 16. 2007
Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE.
Nat Genet 39(1):17-23. 2007
Nonpolar substitution at the C-terminus of the prion protein, a mimic of the glycosylphosphatidylinositol anchor, partially impairs amyloid fibril formation.
Breydo L, Sun Y, Makarava N, Lee CI, Novitskaia V, Bocharova O, Kao JP, Baskakov IV.
Biochemistry 46(3):852-61. 2007
Novel prion protein gene mutation presenting with subacute PSP-like syndrome.
Rowe DB, Lewis V, Needham M, Rodriguez M, Boyd A, McLean C, Roberts H, Masters CL, Collins SJ.
Neurology 68(11):868-70. 2007
Cellular prion protein promotes proliferation and G1/S transition of human gastric cancer cells SGC7901 and AGS.
Liang J, Pan Y, Zhang D, Guo C, Shi Y, Wang J, Chen Y, Wang X, Liu J, Guo X, Chen Z, Qiao T, Fan D.
FASEB J 21(9):2247-56. Epub 2007 Apr 4. 2007
Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.
Mead S, Webb TE, Campbell TA, Beck J, Linehan JM, Rutherfoord S, Joiner S, Wadsworth JD, Heckmann J, Wroe S, Doey L, King A, Collinge J.
Neurology 69(8):730-8. 2007
Hemin interactions and alterations of the subcellular localization of prion protein.
Lee KS, Raymond LD, Schoen B, Raymond GJ, Kett L, Moore RA, Johnson LM, Taubner L, Speare JO, Onwubiko HA, Baron GS, Caughey WS, Caughey B.
J Biol Chem. 282(50):36525-33. 2007
Lethal recessive myelin toxicity of prion protein lacking its central domain.
Baumann F, Tolnay M, Brabeck C, Pahnke J, Kloz U, Niemann HH, Heikenwalder M, Rülicke T, Bürkle A, Aguzzi A.
EMBO J. 26(2):538-47. 2007
Prions in Skeletal Muscles of Deer with Chronic Wasting Disease.
Angers RC, Browning SR, Seward TS, Sigurdson CJ, Miller MW, Hoover EA, Telling GC.
Science [Epub ahead of print] 2006
Childhood onset in familial prion disease with a novel mutation in the PRNP gene.
1: Related Articles, LinksRogaeva E, Zadikoff C, Ponesse J, Schmitt-Ulms G, Kawarai T, Sato C, Salehi-Rad S, St George-Hyslop P, Lang AE.
Arch Neurol 63(7):1016-21. 2006
Identification of prion protein binding proteins by combined use of far-Western immunoblotting, two dimensional gel electrophoresis and mass spectrometry.
Strom A, Diecke S, Hunsmann G, Stuke AW.
Proteomics. 6(1):26-34. 2006
The prion gene is associated with human long-term memory.
Papassotiropoulos A, Wollmer MA, Aguzzi A, Hock C, Nitsch RM, de Quervain DJ.
Hum Mol Genet 14(15):2241-6. Epub 2005 Jun 29. 2005
Phenotypic variability in familial prion diseases due to the D178N mutation.
Zarranz JJ, Digon A, Atares B, Rodriguez-Martinez AB, Arce A, Carrera N, Fernandez-Manchola I, Fernandez-Martinez M, Fernandez-Maiztegui C, Forcadas I, Galdos L, Gomez-Esteban JC, Ibanez A, Lezcano E, Lopez de Munain A, Marti-Masso JF, Mendibe MM, Urtasun M, Uterga JM, Saracibar N, Velasco F, de Pancorbo MM.
J Neurol Neurosurg Psychiatry 76(11):1491-6. 2005
Truncated prion protein and Doppel are myelinotoxic in the absence of oligodendrocytic PrPC.
Radovanovic I, Braun N, Giger OT, Mertz K, Miele G, Prinz M, Navarro B, Aguzzi A.
J Neurosci. 25(19):4879-88. 2005
Direct interaction between prion protein and tubulin.
Nieznanski K, Nieznanska H, Skowronek KJ, Osiecka KM, Stepkowski D.
Biochem Biophys Res Commun. 334(2):403-11. 2005
Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
Croes EA, Alizadeh BZ, Bertoli-Avella AM, Rademaker T, Vergeer-Drop J, Dermaut B, Houwing-Duistermaat JJ, Wientjens DP, Hofman A, Van Broeckhoven C, van Duijn CM.
Eur J Hum Genet 12(5):389-94. 2004
Human prion protein with valine 129 prevents expression of variant CJD phenotype.
Wadsworth JD, Asante EA, Desbruslais M, Linehan JM, Joiner S, Gowland I, Welch J, Stone L, Lloyd SE, Hill AF, Brandner S, Collinge J.
Science 306(5702):1793-6. Epub 2004 Dec 3. 2004
Identification of distinct N-terminal truncated forms of prion protein in different Creutzfeldt-Jakob disease subtypes.
Zanusso G, Farinazzo A, Prelli F, Fiorini M, Gelati M, Ferrari S, Righetti PG, Rizzuto N, Frangione B, Monaco S.
J Biol Chem 279(37):38936-42. Epub 2004 Jul 09. 2004
Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease.
Tahiri-Alaoui A, Gill AC, Disterer P, James W.
J Biol Chem 279(30):31390-7. Epub 2004 May 06. 2004
The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC.
Hosszu LL, Jackson GS, Trevitt CR, Jones S, Batchelor M, Bhelt D, Prodromidou K, Clarke AR, Waltho JP, Collinge J.
J Biol Chem 279(27):28515-21. Epub 2004 Apr 27. 2004
PrP Sc-like prion protein conformer in sudden infant death syndrome brain.
Bergmann J, Bergmann R, Janetzky B, Singh S, Preddie E.
Acta Neuropathol (Berl) 107(1):66-8. Epub 2003 Nov 6. 2004
Identification of cryptic nuclear localization signals in the prion protein.
Gu Y, Hinnerwisch J, Fredricks R, Kalepu S, Mishra RS, Singh N.
Neurobiol Dis 12(2):133-49. 2003
Mapping the functional domain of the prion protein.
Cui T, Daniels M, Wong BS, Li R, Sy MS, Sassoon J, Brown DR.
Eur J Biochem 270(16):3368-76. 2003
Molecular features of the copper binding sites in the octarepeat domain of the prion protein.
Burns CS, Aronoff-Spencer E, Dunham CM, Lario P, Avdievich NI, Antholine WE, Olmstead MM, Vrielink A, Gerfen GJ, Peisach J, Scott WG, Millhauser GL.
Biochemistry 41(12):3991-4001. 2002
Rapidly progressive dementia syndrome associated with a novel four extra repeat mutation in the prion protein gene.
Yanagihara C, Yasuda M, Maeda K, Miyoshi K, Nishimura Y.
J Neurol Neurosurg Psychiatry 72(6):788-91. 2002
Stress-inducible protein 1 is a cell surface ligand for cellular prion that triggers neuroprotection.
Zanata SM, Lopes MH, Mercadante AF, Hajj GN, Chiarini LB, Nomizo R, Freitas AR, Cabral AL, Lee KS, Juliano MA, de Oliveira E, Jachieri SG, Burlingame A, Huang L, Linden R, Brentani RR, Martins VR.
EMBO J. 21(13):3307-16. 2002
Mapping Cu(II) binding sites in prion proteins by diethyl pyrocarbonate modification and matrix-assisted laser desorption ionization-time of flight (MALDI-TOF) mass spectrometric footprinting.
Qin K, Yang Y, Mastrangelo P, Westaway D.
J Biol Chem. 277(3):1981-90. 2002
Cell-surface prion protein interacts with glycosaminoglycans.
Pan T, Wong BS, Liu T, Li R, Petersen RB, Sy MS.
Biochem J. 368(Pt 1):81-90. 2002
Cellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseases.
Lorenz H, Windl O, Kretzschmar HA.
J Biol Chem. 277(10):8508-16. 2002
Mutation of the PRNP gene at codon 211 in familial Creutzfeldt-Jakob disease.
Ladogana A, Almonti S, Petraroli R, Giaccaglini E, Ciarmatori C, Liu QG, Bevivino S, Squitieri F, Pocchiari M.
Am J Med Genet 103(2):133-7. 2001
Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1.
Mead S, Mahal SP, Beck J, Campbell T, Farrall M, Fisher E, Collinge J.
Am J Hum Genet 69(6):1225-35. 2001
The role of disulfide bridge in the folding and stability of the recombinant human prion protein.
Maiti NR, Surewicz WK.
J Biol Chem 276(4):2427-31. 2001
Prion protein contains a second endoplasmic reticulum targeting signal sequence located at its C terminus.
Holscher C, Bach UC, Dobberstein B.
J Biol Chem 276(16):13388-94. 2001
Isolation and functional characterisation of the promoter region of the human prion protein gene.
Mahal SP, Asante EA, Antoniou M, Collinge J.
Gene 268(1-2):105-14. 2001
Prion protein protects human neurons against Bax-mediated apoptosis.
Bounhar Y, Zhang Y, Goodyer CG, LeBlanc A.
J Biol Chem 276(42):39145-9. 2001
The normal cellular prion protein is strongly expressed by myeloid dendritic cells.
Burthem J, Urban B, Pain A, Roberts DJ.
Blood 98(13):3733-8. 2001
A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease.
Panegyres PK, Toufexis K, Kakulas BA, Cernevakova L, Brown P, Ghetti B, Piccardo P, Dlouhy SR.
Arch Neurol 58(11):1899-902. 2001
Huntington disease phenocopy is a familial prion disease.
Moore RC, Xiang F, Monaghan J, Han D, Zhang Z, Edstrom L, Anvret M, Prusiner SB.
Am J Hum Genet 69(6):1385-8. Epub 2001 Oct 9. 2001
PrPC directly interacts with proteins involved in signaling pathways.
Spielhaupter C, Schätzl HM.
J Biol Chem. 276(48):44604-12. 2001
The prion protein has RNA binding and chaperoning properties characteristic of nucleocapsid protein NCP7 of HIV-1.
Gabus C, Derrington E, Leblanc P, Chnaiderman J, Dormont D, Swietnicki W, Morillas M, Surewicz WK, Marc D, Nandi P, Darlix JL.
J Biol Chem. 276(22):19301-9. 2001
The prion protein has DNA strand transfer properties similar to retroviral nucleocapsid protein.
Gabus C, Auxilien S, Péchoux C, Dormont D, Swietnicki W, Morillas M, Surewicz W, Nandi P, Darlix JL.
J Mol Biol. 307(4):1011-21. 2001
High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
Finckh U, Muller-Thomsen T, Mann U, Eggers C, Marksteiner J, Meins W, Binetti G, Alberici A, Hock C, Nitsch RM, Gal A.
Am J Hum Genet 66(1):110-7. 2000
Neuropathologic variants of sporadic Creutzfeldt-Jakob disease and codon 129 of PrP gene.
Hauw JJ, Sazdovitch V, Laplanche JL, Peoc'h K, Kopp N, Kemeny J, Privat N, Delasnerie-Laupretre N, Brandel JP, Deslys JP, Dormont D, Alperovitch A.
Neurology 54(8):1641-6. 2000
First report of polymorphisms in the prion-like protein gene (PRND): implications for human prion diseases.
Peoc'h K, Guerin C, Brandel JP, Launay JM, Laplanche JL.
Neurosci Lett 286(2):144-8. 2000
Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.
Butefisch CM, Gambetti P, Cervenakova L, Park KY, Hallett M, Goldfarb LG.
Neurology 55(4):517-22. 2000
Bovine prion protein as a modulator of protein kinase CK2.
Meggio F, Negro A, Sarno S, Ruzzene M, Bertoli A, Sorgato MC, Pinna LA.
Biochem J. 352 Pt 1:191-6. 2000
Signal transduction through prion protein.
Mouillet-Richard S, Ermonval M, Chebassier C, Laplanche JL, Lehmann S, Launay JM, Kellermann O.
Science. 289(5486):1925-8. 2000
Binding of disease-associated prion protein to plasminogen.
Fischer MB, Roeckl C, Parizek P, Schwarz HP, Aguzzi A.
Nature. 408(6811):479-83. 2000
Ancestral Origins and Worldwide Distribution of the PRNP 200K Mutation Causing Familial Creutzfeldt-Jakob Disease.
Lee HS, et al.
Am J Hum Genet 64(4):1063-1070. 1999
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
Hainfellner JA, et al.
Ann Neurol 45(6):812-6. 1999
Novel PRNP sequence variant associated with familial encephalopathy.
Cervenakova L, Buetefisch C, Lee HS, Taller I, Stone G, Gibbs CJ Jr, Brown P, Hallett M, Goldfarb LG.
Am J Med Genet 88(6):653-6 1999
Variant Gerstmann-Straussler syndrome with the P105L prion gene mutation: an unusual case with nigral degeneration and widespread neurofibrillary tangles.
Yamazaki M, Oyanagi K, Mori O, Kitamura S, Ohyama M, Terashi A, Kitamoto T, Katayama Y.
Acta Neuropathol (Berl) 98(5):506-11 1999
Familial Creutzfeldt-Jakob disease with a novel 120-bp insertion in the prion protein gene.
Skworc KH, Windl O, Schulz-Schaeffer WJ, Giese A, Bergk J, Nagele A, Vieregge P, Zerr I, Poser S, Kretzschmar HA.
Ann Neurol 46(5):693-700 1999
Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene.
Mallucci GR, Campbell TA, Dickinson A, Beck J, Holt M, Plant G, de Pauw KW, Hakin RN, Clarke CE, Howell S, Davies-Jones GA, Lawden M, Smith CM, Ince P, Ironside JW, Bridges LR, Dean A, Weeks I, Collinge J.
Brain 122 ( Pt 10):1823-37. 1999
Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene.
Laplanche JL, Hachimi KH, Durieux I, Thuillet P, Defebvre L, Delasnerie-Laupretre N, Peoc'h K, Foncin JF, Destee A.
Brain 122 ( Pt 12):2375-86. 1999
Membrane environment alters the conformational structure of the recombinant human prion protein.
Morillas M, Swietnicki W, Gambetti P, Surewicz WK.
J Biol Chem. 274(52):36859-65. 1999
Proteasomal degradation and N-terminal protease resistance of the codon 145 mutant prion protein.
Zanusso G, Petersen RB, Jin T, Jing Y, Kanoush R, Ferrari S, Gambetti P, Singh N.
J Biol Chem. 274(33):23396-404. 1999
Clinical features of fatal familial insomnia : phenotypic variability in relation to a polymorphism at codon 129 of the prion protein gene.
Montagna P, et al.
Brain Pathol 8 : 515-520. 1998
Codon 219 Lys allele of PRNP is not found in sporadic Creutzfeldt-Jakob disease.
Shibuya S, et al.
Ann Neurol 43 : 826-828. 1998
Familial mutations and the thermodynamic stability of the recombinant human prion protein.
Swietnicki W, Petersen RB, Gambetti P, Surewicz WK.
J Biol Chem 273 : 31048-31052. 1998
Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.
Lee IY, Westaway D, Smit AF, Wang K, Seto J, Chen L, Acharya C, Ankener M, Baskin D, Cooper C, Yao H, Prusiner SB, Hood LE.
Genome Res 8(10):1022-37. 1998
A Huntington disease-like neurodegenerative disorder maps to chromosome 20p.
Xiang F, Almqvist EW, Huq M, Lundin A, Hayden MR, Edstrom L, Anvret M, Zhang Z.
Am J Hum Genet 63(5):1431-8. 1998
Gerstmann-StrŠussler-Scheinker disease with the PRNP P102L, mutation and valine at codon 129.
Young K, et al.
Brain Res Mol Brain Res 44 : 147-150. 1997
Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
Nitrini R, Rosemberg S, Passos-Bueno MR, da Silva LS, Iughetti P, Papadopoulos M, Carrilho PM, Caramelli P, Albrecht S, Zatz M, LeBlanc A.
Ann Neurol 42(2):138-46. 1997
Familial prion disease with a novel 144-bp insertion in the prion protein gene in a Basque family.
Capellari S, Vital C, Parchi P, Petersen RB, Ferrer X, Jarnier D, Pegoraro E, Gambetti P, Julien J.
Neurology 49(1):133-41. 1997
The D178N (cis-129M) fatal familial insomnia mutation associated with diverse clinicopathologic phenotypes in an Australian kindred.
McLean CA, Storey E, Gardner RJ, Tannenberg AE, Cervenakova L, Brown P.
Neurology 49(2):552-8. 1997
A case of Creutzfeldt-Jakob disease with a point mutation at codon 232: correlation of MRI and neurologic findings.
Satoh A, Goto H, Satoh H, Tomita I, Seto M, Furukawa H, Tsujihata M.
Neurology 49(5):1469-70. 1997
A prion disease with a novel 96-base pair insertional mutation in the prion protein gene.
Campbell TA, et al.
Neurology 46 : 761-766. 1996
Genetic basis of Creutzfeldt-Jakob disease in the United Kingdom : a systematic analysis of predisposing mutations and allelic variation in the PRNP gene.
Windl O, et al.
Hum Genet 98 : 259-264. 1996
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-StrŠussler-Scheinker disease (PrP-P102L mutation).
Barbanti P, et al.
Neurology 47 : 734-741. 1996
Mutation in the prion protein gene at codon 232 in Japanese patients with Creutzfeldt-Jakob disease : a clinicopathological, immunohistochemical and transmission study.
Hoque MZ, et al.
Acta Neuropathol 92 : 441-446. 1996
Prion protein PrPc interacts with molecular chaperones of the Hsp60 family.
Edenhofer F, Rieger R, Famulok M, Wendler W, Weiss S, Winnacker EL.
J Virol. 70(7):4724-8. 1996
Prion disease with 144 base pair insertion in a Japanese family line.
Oda T, et al.
Acta Neuropathol 90 : 80-86. 1995
Inherited Creutzfeldt-Jakob disease in a British family associated with a novel 144 base pair insertion of the prion protein gene.
Nicholl D, et al.
J Neurol Neurosurg Psychiatry 58 : 65-69. 1995
Two novel insertions in the prion protein gene in patients with late-onset dementia.
Laplanche JL, et al.
Hum Mol Genet 4 : 1109-1111. 1995
Gerstmann-StrŠussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
Young K, et al.
Neurology 45 : 1127-1134. 1995
Detecting prion protein gene mutations by denaturing gradient gel electrophoresis.
Fink JK, et al.
Hum Mutat 4 : 42-50. 1994
A variant of Gerstmann-StrŠussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene : a clinicopathological study.
Itoh Y, et al.
J Neurol Sci 127 : 77-86. 1994
A new point mutation in the prion protein gene at codon 210 in Creutzfeldt-Jakob disease.
Ripoll L, et al.
Neurology 43 : 1934-1938. 1993
Clinical heterogeneity and unusual presentations of Creutzfeldt-Jakob disease in Jewish patients with the PRNP codon 200 mutation.
Chapman J, et al.
J Neurol Neurosurg Psychiatry 56 : 1109-1112. 1993
A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
Pocchiari M, et al.
Ann Neurol 34 : 802-807. 1993
A new inherited Prion disease (PrP-P105L mutation) showing spastic paraparesis.
Kitamoto T, et al.
Ann Neurol 34 : 808-813. 1993
Double mutations at codon 180 and codon 232 of the PRNP gene in an apparently sporadic case of Creutzfeldt-Jakob disease.
Hitoshi S, et al.
J Neurol Sci 120 : 208-212. 1993
Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-StrŠussler syndrome.
Kitamoto T, et al.
Biochem Biophys Res Commun 191 : 709-714. 1993
Deletions in the prion protein gene are not associated with CJD.
Palmer MS, et al.
Hum Mol Genet 2 : 541-544. 1993
An amber mutation of prion protein in Gerstmann-StrŠussler syndrome with mutant PrP plaques.
Kitamoto T, et al.
Biochem Biophys Res Commun 192 : 525-531. 1993
Mutations and polymorphisms in the prion protein gene.
Palmer MS, et al.
Hum Mutat 2 : 168-173. 1993
Prion protein gene analysis in three kindreds with fatal familial insomnia (FFI) : codon 178 mutation and codon 129 polymorphism.
Medori R, et al.
Am J Hum Genet 53 : 822-827. 1993
Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD).
Gabizon R, et al.
Am J Hum Genet 53 : 828-835. 1993
A dementing illness associated with a novel insertion in the prion protein gene.
Owen F, et al.
Brain Res Mol Brain Res 13 : 155-157. 1992
Familial Creutzfeldt-Jakob disease (codon 200 mutation) with supranuclear palsy.
Bertoni JM, et al.
JAMA 268 : 2413-2415. 1992
Creutzfeldt-Jacob disease associated with the PRNP codon 200 LYS mutation : an analysis of 45 families.
Goldfarb LG, et al.
Eur J Epidemiol 7 : 477-486. 1991
Support of linkage of Gerstmann-StrŠussler-Scheinker syndrome to the prion protein gene on chromosome 20p12-pter.
Speer MC, et al.
Genomics 9 : 366-368. 1991
A codon 129 polymorphism in the PRIP gene.
Owen F, et al.
Nucleic Acids Res 18 : 3103. 1990
An Alul RFLP detected in the human prion protein (PrP) gene.
Harris MS, et al.
Nucleic Acids Res 18 : 385. 1990
Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-StrŠussler-Scheinker's syndrome.
Goldgaber D, et al.
Exp Neurol 106 : 204-206. 1989
A PvuII RFLP detected in the human prion protein (PrP) gene.
Wu Y, et al.
Nucleic Acids Res 15 : 3191. 1987
Human prion protein cDNA:molecular cloning, chromosomal mapping, and biological implications.
Liao YCJ, et al.
Science 233 : 364-367. 1986
Localization of a human gene homologous to the PrP gene on the p arm of chromosome 20 and detection of PrP-related antigens in normal human brain.
Robakis NK, et al.
Biochem Biophys Res Commun 140 : 758-765. 1986
Assignment of the human and mouse prion protein genes to homologous chromosomes.
Sparkes RS, et al.
Proc Natl Acad Sci U S A 83 : 7358-7362. 1986
Scrapie and cellular PrP isoforms are encoded by the same chromosomal gene.
Basler K, et al.
Cell 46 : 417-428. 1986
Molecular cloning and complete sequence of prion protein cDNA from mouse brain infected with the scrapie agent.
Locht C, et al.
Proc Natl Acad Sci U S A 83 : 6372-6376. 1986