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Index > Protein center > PRNP(Gene name) > Human
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  • PRNP (Gene name),
  • Major prion protein (Protein name ),  PRIO_HUMAN from NCBI database.
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  • General Annotation
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  • Antigen Annotation
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  • Predicted Eptitope
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  • Vaild Sequence
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  • Gene name:
    PRNP(PRIP;PRP);
    Protein name:
    Major prion protein(PrP);
    Alternative:
    PrP27-30;ASCR;PrP33-35C;
    CD:
    CD230;
    Organism:
    Human (Homo sapiens). 
    General Annotation
    Sub Unit:
    Monomer and homodimer. Has a tendency to aggregate into amyloid fibrils containing a cross-beta spine, formed by a steric zipper of superposed beta-strands. Soluble oligomers may represent an intermediate stage on the path to fibril formation. Copper binding may promote oligomerization. Interacts with GRB2, APP, ERI3/PRNPIP and SYN1. Mislocalized cytosolically exposed PrP interacts with MGRN1; this interaction alters MGRN1 subcellular location and causes lysosomal enlargement.
    Function:
    The function of PrP is still under debate. May play a role in neuronal development and synaptic plasticity. May be required for neuronal myelin sheath maintenance. May play a role in iron uptake and iron homeostasis (By similarity). Isoform 2 may act as a growth suppressor by arresting the cell cycle at the G0/G1 phase. Soluble oligomers are toxic to cultured neuroblastoma cells and induce apoptosis (in vitro).
    Subcellular Location:
    Isoform 2 Cytoplasm Nucleus Accumulates outside the secretory route in the cytoplasm, from where it relocates to the nucleus.
    Protein Attributes:
    Sequence length:
    253
    Sequence:
    50:
    MANLGCWMLV | LFVATWSDLG | LCKKRPKPGG | WNTGGSRYPG | QGSPGGNRYP | 
    100:
    PQGGGGWGQP | HGGGWGQPHG | GGWGQPHGGG | WGQPHGGGWG | QGGGTHSQWN | 
    150:
    KPSKPKTNMK | HMAGAAAAGA | VVGGLGGYML | GSAMSRPIIH | FGSDYEDRYY | 
    200:
    RENMHRYPNQ | VYYRPMDEYS | NQNNFVHDCV | NITIKQHTVT | TTTKGENFTE | 
    250:
    TDVKMMERVV | EQMCITQYER | ESQAYYQRGS | SMVLFSSPPV | ILLISFLIFL | 
    253:
    IVG
    3D Structure:
    N/A
    Predicted Eptitope:
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    EIAab Sequence  Vaild Sequence:
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    Related Databases
    SMR:
    KEGG:
    UniGene:
    Pfam:
    MIM:
    String:
    Uniprot:
     
    FOR
    ELISA Kit for Human PrP
    Cat.:
    E9345h
    Price:
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human PrP
    Cat.:
    E9345m
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    MSDS:
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    Packing:
    96T
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    ELISA Kit for Human PrP
    Cat.:
    E9345c
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human PrP
    MSDS:
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    ELISA Kit for Human PrP
    Cat.:
    E9345r
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human PrP
    Cat.:
    E9345b
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    MSDS:
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    Packing:
    96T
    Range:
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    ELISA Kit for Human PrP
    MSDS:
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    ELISA Kit for Human PrP
    Cat.:
    E9345p
    Price:
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human PrP
    Cat.:
    U9345h
    Price:
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    MSDS:
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    Packing:
    96T
    CLIA Kit for Human PrP
    Cat.:
    U9345r
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human PrP
    Cat.:
    U9345m
    Price:
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    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human PrP
    Cat.:
    U9345b
    Price:
    Please sign in first.
    MSDS:
    Please sign in first.
    Packing:
    96T
    CLIA Kit for Human PrP
    MSDS:
    Please sign in first.
    CLIA Kit for Human PrP
    MSDS:
    Please sign in first.
    CLIA Kit for Human PrP
    MSDS:
    Please sign in first.
    CLIA Kit for Human PrP
    Cat.:
    U9345p
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    MSDS:
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    Packing:
    96T
    Polyclonal Antibody for Human PrP
    Cat.:
    P9345Rb-h
    Price:
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    Packing:
    40ug/0.2ml
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Polyclonal Antibody for Human PrP
    Cat.:
    P9345Rb-m
    Price:
    Please sign in first.
    Packing:
    40ug/0.2ml
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Monoclonal Antibody for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP
    Protein for Human PrP

    R&D Technical Data

           12% SDS-PAGE Analysis

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    Precision

    Intra-assay Precision (Precision within an assay):Three samples of known concentration were tested twenty times on one plate to assess intra-assay precision.

    Intra-Assay CV: ≤5.6%

    Inter-assay Precision (Precision between assays):Three samples of known concentration were tested in five separate assays to assess inter-assay precision.

    Inter-Assay CV: ≤10.6%

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    Recovery

    Recovery was determined by spiking various levels of ACE into serum and plasma .

    Sample Type

    Average(%)

    Recovery Range(%)

    Serum

    99

    91-106

    Plasma

    98

    92-108

     

     

     

     

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    Linearity

    The linearity of the kit was assayed by testing samples spiked with appropriate concentration of ACE and their serial dilutions. The results were demonstrated by the percentage of calculated concentration to the expected.  

    Sample

    1:2

    1:4

    1:8

    1:16

    serum(n=5)

    93-102%

    92-103%

    95-105%

    92-107%

    EDTA plasma(n=5)

    88-96%

    93-101%

    94-102%

    95-106%

    heparin plasma(n=5)

    93-104%

     

    94-105%

    101-106%

    95-109%

     

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    References
    1. 1.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
    2. 2.
      "Genomic structure of the human prion protein gene."
      Puckett C. , Concannon P. , Casey C. , Hood L.E.
      Am. J. Hum. Genet.49:320-329(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT 56-GLY--GLY-63 DEL
      tissue: Brain.
    3. 3.
      "Complete genomic sequence and analysis of the prion protein gene region from three mammalian species."
      Lee I.Y. , Westaway D. , Smit A.F.A. , Wang K. , Seto J. , Chen L. , Acharya C. , Ankener M. , Baskin D. , Cooper C. , Yao H. , Prusiner S.B. , Hood L.E.
      Genome Res.8:1022-1037(1998) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    4. 4.
      "Novel PRNP sequence variant associated with familial encephalopathy."
      Cervenakova L. , Buetefisch C. , Lee H.S. , Taller I. , Stone G. , Gibbs C.J. Jr. , Brown P. , Hallett M. , Goldfarb L.G.
      Am. J. Med. Genet.88:653-656(1999) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA];VARIANT GSD ARG-187
      tissue: Blood.
    5. 5.
      "Cloning of human prostate prion protein cDNA."
      Hryb D.J. , Reynolds T.A. , Nakhla A.M. , Kahn S.M. , Khan S.M. , Romas N.A. , Rosner W.
      Submitted (2000-09) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA]
      tissue: Prostate.
    6. 6.
      "Analysis and comparison of several mammalian prion protein genes Prnp."
      Zhang J. , Liu Y. , Chen H. , Jiang H. , Lu W. , Zhu X. , Xie Q. , Cai X. , Liu X.
      Submitted (2006-02) to the EMBL/GenBank/DDBJ databases
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]
    7. 7.
      "The DNA sequence and comparative analysis of human chromosome 20."
      Deloukas P. , Matthews L.H. , Ashurst J.L. , Burton J. , Gilbert J.G.R. , Jones M. , Stavrides G. , Almeida J.P. , Babbage A.K. , Bagguley C.L. , Bailey J. , Barlow K.F. , Bates K.N. , Beard L.M. , Beare D.M. , Beasley O.P. , Bird C.P. , Blakey S.E. , more...
      Nature414:865-871(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
    8. 8.
      "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
      The MGC Project Team
      Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]
      tissue: Brain.
      tissue: Ovary.
    9. 9.
      "Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications."
      Liao Y.-C.J. , Lebo R.V. , Clawson G.A. , Smuckler E.A.
      Science233:364-367(1986) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 8-253
    10. 10.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 9-232;VARIANT 56-GLY--GLY-63 DEL
      tissue: Brain.
    11. 11.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 8-253;VARIANT SCHIZOAFFECTIVE DISORDER SER-171
    12. 12.
      "SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family."
      Perry R.T. , Go R.C. , Harrell L.E. , Acton R.T.
      Am. J. Med. Genet.60:12-18(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 41-85;VARIANT 56-GLY--GLY-63 DEL
    13. 13.
      "Amyloid protein of Gerstmann-Straussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58."
      Tagliavini F. , Prelli F. , Ghiso J. , Bugiani O. , Serban D. , Prusiner S.B. , Farlow M.R. , Ghetti B. , Frangione B.
      EMBO J.10:513-519(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 58-85 AND 111-150
    14. 14.
      "Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene."
      Goldfarb L.G. , Brown P. , McCombie W.R. , Goldgaber D. , Swergold G.D. , Wills P.R. , Cervenakova L. , Baron H. , Gibbs C.J. Jr. , Gajdusek D.C.
      Proc. Natl. Acad. Sci. U.S.A.88:10926-10930(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 84-91
    15. 15.
      "Prion, amyloid beta-derived Cu(II) ions, or free Zn(II) ions support S-nitroso-dependent autocleavage of glypican-1 heparan sulfate."
      Mani K. , Cheng F. , Havsmark B. , Jonsson M. , Belting M. , Fransson L.A.
      J. Biol. Chem.278:38956-38965(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COPPER-BINDING;FUNCTION
    16. 16.
      "The octarepeat domain of the prion protein binds Cu(II) with three distinct coordination modes at pH 7.4."
      Chattopadhyay M. , Walter E.D. , Newell D.J. , Jackson P.J. , Aronoff-Spencer E. , Peisach J. , Gerfen G.J. , Bennett B. , Antholine W.E. , Millhauser G.L.
      J. Am. Chem. Soc.127:12647-12656(2005) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COPPER-BINDING
    17. 17.
      "The prion protein is a combined zinc and copper binding protein: Zn2+ alters the distribution of Cu2+ coordination modes."
      Walter E.D. , Stevens D.J. , Visconte M.P. , Millhauser G.L.
      J. Am. Chem. Soc.129:15440-15441(2007) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COPPER-BINDING;ZINC-BINDING
    18. 18.
      "Biosynthesis of prion protein nucleocytoplasmic isoforms by alternative initiation of translation."
      Juanes M.E. , Elvira G. , Garcia-Grande A. , Calero M. , Gasset M.
      J. Biol. Chem.284:2787-2794(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: ALTERNATIVE INITIATION (ISOFORM 2);SUBCELLULAR LOCATION;MUTAGENESIS OF MET-1 AND MET-8
    19. 19.
      "Mass-spectrometric identification and relative quantification of N-linked cell surface glycoproteins."
      Wollscheid B. , Bausch-Fluck D. , Henderson C. , O'Brien R. , Bibel M. , Schiess R. , Aebersold R. , Watts J.D.
      Nat. Biotechnol.27:378-386(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: GLYCOSYLATION [LARGE SCALE ANALYSIS] AT ASN-197
      tissue: Leukemic T-cell.
    20. 20.
      "Glypican-1 mediates both prion protein lipid raft association and disease isoform formation."
      Taylor D.R. , Whitehouse I.J. , Hooper N.M.
      PLoS Pathog.5:E1000666-E1000666(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: FUNCTION;SUBCELLULAR LOCATION;DISEASE ASSOCIATION
    21. 21.
      "Early onset prion disease from octarepeat expansion correlates with copper or zinc binding properties."
      Stevens D.J. , Walter E.D. , Rodriguez A. , Draper D. , Davies P. , Brown D.R. , Millhauser G.L.
      PLoS Pathog.5:E1000390-E1000390(2009) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COPPER-BINDING
    22. 22.
      "Prion fibrillization is mediated by a native structural element that comprises helices H2 and H3."
      Adrover M. , Pauwels K. , Prigent S. , de Chiara C. , Xu Z. , Chapuis C. , Pastore A. , Rezaei H.
      J. Biol. Chem.285:21004-21012(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: SUBUNIT;DOMAIN
    23. 23.
      "Copper (II) promotes the formation of soluble neurotoxic PrP oligomers in acidic environment."
      Wu D. , Zhang W. , Luo Q. , Luo K. , Huang L. , Wang W. , Huang T. , Chen R. , Lin Y. , Pang D. , Xiao G.
      J. Cell. Biochem.111:627-633(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: COPPER-BINDING;CIRCULAR DICHROISM;DOMAIN;FUNCTION;SUBUNIT
    24. 24.
      "Characterizing the novel protein p33MONOX."
      Mishra M. , Inoue N. , Heese K.
      Mol. Cell. Biochem.350:127-134(2011) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INTERACTION WITH KIAA1191
    25. 25.
      "Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases."
      Zhang Y. , Swietnicki W. , Zagorski M.G. , Surewicz W.K. , Soennichsen F.D.
      J. Biol. Chem.275:33650-33654(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 90-231 OF MUTANT LYS-200
    26. 26.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 23-230
    27. 27.
      "NMR structures of three single-residue variants of the human prion protein."
      Calzolai L. , Lysek D.A. , Guntert P. , von Schroetter C. , Riek R. , Zahn R. , Wuethrich K.
      Proc. Natl. Acad. Sci. U.S.A.97:8340-8345(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 118-221
    28. 28.
      "Crystal structure of the human prion protein reveals a mechanism for oligomerization."
      Knaus K.J. , Morillas M. , Swietnicki W. , Malone M. , Surewicz W.K. , Yee V.C.
      Nat. Struct. Biol.8:770-774(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 119-226;DOMAIN;SUBUNIT
    29. 29.
      "Molecular features of the copper binding sites in the octarepeat domain of the prion protein."
      Burns C.S. , Aronoff-Spencer E. , Dunham C.M. , Lario P. , Avdievich N.I. , Antholine W.E. , Olmstead M.M. , Vrielink A. , Gerfen G.J. , Peisach J. , Scott W.G. , Millhauser G.L.
      Biochemistry41:3991-4001(2002) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (0.75 ANGSTROMS) OF 61-65 IN COMPLEX WITH COPPER ION;DOMAIN;SUBUNIT
    30. 30.
      "The octapeptide repeats in mammalian prion protein constitute a pH-dependent folding and aggregation site."
      Zahn R.
      J. Mol. Biol.334:477-488(2003) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: STRUCTURE BY NMR OF 61-68;DISULFIDE BOND;SUBUNIT
    31. 31.
      "Mutations and polymorphisms in the prion protein gene."
      Palmer M.S. , Collinge J.
      Hum. Mutat.2:168-173(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    32. 32.
      "Genetic and infectious prion diseases."
      Prusiner S.B.
      Arch. Neurol.50:1129-1153(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: REVIEW ON VARIANTS
    33. 33.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (0.85 ANGSTROMS) OF 170-175;SUBUNIT;DOMAIN
    34. 34.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (2.9 ANGSTROMS) OF 119-231 IN COMPLEX WITH FAB FRAGMENT OF MONOCLONAL ANTIBODY ICSM 18;SUBUNIT
    35. 35.
      "Conformational diversity in prion protein variants influences intermolecular beta-sheet formation."
      Lee S. , Antony L. , Hartmann R. , Knaus K.J. , Surewicz K. , Surewicz W.K. , Yee V.C.
      EMBO J.29:251-262(2010) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: X-RAY CRYSTALLOGRAPHY (1.8 ANGSTROMS) OF 125-227 OF VARIANT VAL-129; VARIANT FFI/CJD ASN-178 AND VARIANT GSD SER-198;SUBUNIT;DOMAIN
    36. 36.
      "Linkage of a prion protein missense variant to Gerstmann-Straussler syndrome."
      Hsiao K. , Baker H.F. , Crow T.J. , Poulter M. , Owen F. , Terwilliger J.D. , Westaway D. , Ott J. , Pursiner S.B.
      Nature338:342-345(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD LEU-102
    37. 37.
      "Pro-->Leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Straussler syndrome."
      Doh-Ura K. , Tateishi J. , Sasaki H. , Kitamoto T. , Sakaki Y.
      Biochem. Biophys. Res. Commun.163:974-979(1989) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LEU-102; VAL-117 AND VAL-129
    38. 38.
      "Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178."
      Medori R. , Montagna P. , Tritschler H.J. , Leblanc A. , Cortelli P. , Tinuper P. , Lugaresi E. , Gambetti P.
      Neurology42:669-670(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT FFI ASN-178
    39. 39.
      "New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred."
      Goldfarb L.G. , Haltia M. , Brown P. , Nieto A. , Kovanen J. , McCombie W.R. , Trapp S. , Gajdusek D.C.
      Lancet337:425-425(1991) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD ASN-178
    40. 40.
      "Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia."
      Goldfarb L. , Mitrova E. , Brown P. , Toh B.K. , Gajdusek D.C.
      Lancet336:514-515(1990) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD LYS-200
    41. 41.
      "Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles."
      Hsiao K. , Dlouhy S.R. , Farlow M.R. , Cass C. , da Costa M. , Conneally P.M. , Hodes M.E. , Ghetti B. , Prusiner S.B.
      Nat. Genet.1:68-71(1992) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD ARG-217
    42. 42.
      "Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome."
      Kitamoto T. , Ohta M. , Doh-Ura K. , Hitoshi S. , Terao Y. , Tateishi J.
      Biochem. Biophys. Res. Commun.191:709-714(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CJD ILE-180 AND ARG-232
    43. 43.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD ILE-210
    44. 44.
      "A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Straussler-Scheinker disease."
      Yamada M. , Itoh Y. , Fujigasaki H. , Naruse S. , Kaneko K. , Kitamoto T. , Tateishi J. , Otomo E. , Hayakawa M. , Tanaka J. , Matsushita M. , Miyatake T.
      Neurology43:2723-2724(1993) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD LEU-105
    45. 45.
      "A variant of Gerstmann-Straussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study."
      Itoh Y. , Yamada M. , Hayakawa M. , Shozawa T. , Tanaka J. , Matsushita M. , Kitamoto T. , Tateishi J. , Otomo E.
      J. Neurol. Sci.127:77-86(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD LEU-105
    46. 46.
      "Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene."
      Inoue I. , Kitamoto T. , Doh-Ura K. , Shii H. , Goto I. , Tateishi J.
      Neurology44:299-301(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD LYS-200
    47. 47.
      "Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease."
      Gabizon R. , Rosenman H. , Meiner Z. , Kahana I. , Kahana E. , Shugart Y. , Ott J. , Prusiner S.B.
      Philos. Trans. R. Soc. Lond., B, Biol. Sci.343:385-390(1994) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD LYS-200
    48. 48.
      "Gerstmann-Straussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients."
      Young K. , Jones C.K. , Piccardo P. , Lazzarini A. , Golbe L.I. , Zimmerman T.R. , Dickson D.W. , McLachlan D.C. , St George-Hyslop P.H. , Lennox A.
      Neurology45:1127-1134(1995) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD LEU-102
    49. 49.
      "Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Straussler-Scheinker disease (PrP-P102L mutation)."
      Barbanti P. , Fabbrini G. , Salvatore M. , Petraroli R. , Cardone F. , Maras B. , Equestre M. , Macchi G. , Lenzi G.L. , Pocchiari M.
      Neurology47:734-741(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD LEU-102;VARIANT LYS-219
    50. 50.
      "Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease."
      Mastrianni J.A. , Iannicola C. , Myers R.M. , Dearmond S. , Prusiner S.B.
      Neurology47:1305-1312(1996) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD HIS-208
    51. 51.
      "Familial spongiform encephalopathy associated with a novel prion protein gene mutation."
      Nitrini R. , Rosemberg S. , Passos-Bueno M.R. , da Silva L.S. , Iughetti P. , Papadopoulos M. , Carrilho P.M. , Caramelli P. , Albrecht S. , Zatz M. , Leblanc A.
      Ann. Neurol.42:138-146(1997) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT CJD HIS-208
    52. 52.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS GSD ASN-202 AND PRO-212
    53. 53.
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ARG-188 AND SER-238
    54. 54.
      "High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes."
      Finckh U. , Mueller-Thomsen T. , Mann U. , Eggers C. , Marksteiner J. , Meins W. , Binetti G. , Alberici A. , Hock C. , Nitsch R.M. , Gal A.
      Am. J. Hum. Genet.66:110-117(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS EARLY-ONSET DEMENTIA LEU-102; ALA-183 AND LYS-188
    55. 55.
      "Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype."
      Peoc'h K. , Manivet P. , Beaudry P. , Attane F. , Besson G. , Didier H. , Delasnerie-Laupretre N. , Laplanche J.-L.
      Hum. Mutat.15:482-482(2000) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS CJD LYS-196; ILE-203 AND GLN-211
    56. 56.
      "A new PRNP mutation (G131V) associated with Gerstmann-Straussler-Scheinker disease."
      Panegyres P.K. , Toufexis K. , Kakulas B.A. , Cernevakova L. , Brown P. , Ghetti B. , Piccardo P. , Dlouhy S.R.
      Arch. Neurol.58:1899-1902(2001) [PubMed] [Europe PMC] [Abstract]
      [15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GSD VAL-131
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