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Volumn 78, Issue 4, 2015, Pages 540-553

Modulation of Creutzfeldt-Jakob disease prion propagation by the A224V mutation

Author keywords

[No Author keywords available]

Indexed keywords

PRION PROTEIN; PEPTIDE FRAGMENT; PRION; PRION PROTEIN (125-228), HUMAN;

EID: 84942368874     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24463     Document Type: Article
Times cited : (18)

References (49)
  • 2
    • 0021023167 scopus 로고
    • A protease-resistant protein is a structural component of the scrapie prion
    • McKinley MP, Bolton DC, Prusiner SB,. A protease-resistant protein is a structural component of the scrapie prion. Cell 1983; 35: 57-62.
    • (1983) Cell , vol.35 , pp. 57-62
    • McKinley, M.P.1    Bolton, D.C.2    Prusiner, S.B.3
  • 3
    • 0032816292 scopus 로고    scopus 로고
    • Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects
    • Parchi P, Giese A, Capellari S, et al., Classification of sporadic Creutzfeldt-Jakob disease based on molecular and phenotypic analysis of 300 subjects. Ann Neurol 1999; 46: 224-233.
    • (1999) Ann Neurol , vol.46 , pp. 224-233
    • Parchi, P.1    Giese, A.2    Capellari, S.3
  • 4
    • 0028997297 scopus 로고
    • Non-genetic propagation of strain-specific properties of scrapie prion protein
    • Bessen RA, Kocisko DA, Raymond GJ, et al., Non-genetic propagation of strain-specific properties of scrapie prion protein. Nature 1995; 375: 698-700.
    • (1995) Nature , vol.375 , pp. 698-700
    • Bessen, R.A.1    Kocisko, D.A.2    Raymond, G.J.3
  • 5
    • 12644272790 scopus 로고    scopus 로고
    • Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity
    • Telling GC, Parchi P, DeArmond SJ, et al., Evidence for the conformation of the pathologic isoform of the prion protein enciphering and propagating prion diversity. Science 1996; 274: 2079-2082.
    • (1996) Science , vol.274 , pp. 2079-2082
    • Telling, G.C.1    Parchi, P.2    DeArmond, S.J.3
  • 7
    • 33749236229 scopus 로고    scopus 로고
    • Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease
    • Collins SJ, Sanchez-Juan P, Masters CL, et al., Determinants of diagnostic investigation sensitivities across the clinical spectrum of sporadic Creutzfeldt-Jakob disease. Brain 2006; 129: 2278-2287.
    • (2006) Brain , vol.129 , pp. 2278-2287
    • Collins, S.J.1    Sanchez-Juan, P.2    Masters, C.L.3
  • 8
    • 0037447071 scopus 로고    scopus 로고
    • Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene
    • Korth C, Kaneko K, Groth D, et al., Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene. Proc Natl Acad Sci U S A 2003; 100: 4784-4789.
    • (2003) Proc Natl Acad Sci U S A , vol.100 , pp. 4784-4789
    • Korth, C.1    Kaneko, K.2    Groth, D.3
  • 9
    • 77955344991 scopus 로고    scopus 로고
    • Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties
    • Bishop MT, Will RG, Manson JC,. Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties. Proc Natl Acad Sci U S A 2010; 107: 12005-12010.
    • (2010) Proc Natl Acad Sci U S A , vol.107 , pp. 12005-12010
    • Bishop, M.T.1    Will, R.G.2    Manson, J.C.3
  • 10
    • 84887099321 scopus 로고    scopus 로고
    • Drug resistance confounding prion therapeutics
    • Berry DB, Lu D, Geva M, et al., Drug resistance confounding prion therapeutics. Proc Natl Acad Sci U S A 2013; 110: E4160-E4169.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. E4160-E4169
    • Berry, D.B.1    Lu, D.2    Geva, M.3
  • 11
    • 0026600865 scopus 로고
    • Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein
    • Büeler H, Fisher M, Lang Y, et al., Normal development and behaviour of mice lacking the neuronal cell-surface PrP protein. Nature 1992; 356: 577-582.
    • (1992) Nature , vol.356 , pp. 577-582
    • Büeler, H.1    Fisher, M.2    Lang, Y.3
  • 12
    • 84857756257 scopus 로고    scopus 로고
    • Spontaneous generation of rapidly transmissible prions in transgenic mice expressing wild-type bank vole prion protein
    • Watts JC, Giles K, Stöhr J, et al., Spontaneous generation of rapidly transmissible prions in transgenic mice expressing wild-type bank vole prion protein. Proc Natl Acad Sci U S A 2012; 109: 3498-3503.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 3498-3503
    • Watts, J.C.1    Giles, K.2    Stöhr, J.3
  • 13
    • 77956195787 scopus 로고    scopus 로고
    • Conformation-dependent high-affinity monoclonal antibodies to prion proteins
    • Stanker LH, Serban AV, Cleveland E, et al., Conformation-dependent high-affinity monoclonal antibodies to prion proteins. J Immunol 2010; 185: 729-737.
    • (2010) J Immunol , vol.185 , pp. 729-737
    • Stanker, L.H.1    Serban, A.V.2    Cleveland, E.3
  • 14
    • 0036843448 scopus 로고    scopus 로고
    • Measuring prions causing bovine spongiform encephalopathy or chronic wasting disease by immunoassays and transgenic mice
    • Safar JG, Scott M, Monaghan J, et al., Measuring prions causing bovine spongiform encephalopathy or chronic wasting disease by immunoassays and transgenic mice. Nat Biotechnol 2002; 20: 1147-1150.
    • (2002) Nat Biotechnol , vol.20 , pp. 1147-1150
    • Safar, J.G.1    Scott, M.2    Monaghan, J.3
  • 15
    • 0028882424 scopus 로고
    • Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein
    • Telling GC, Scott M, Mastrianni J, et al., Prion propagation in mice expressing human and chimeric PrP transgenes implicates the interaction of cellular PrP with another protein. Cell 1995; 83: 79-90.
    • (1995) Cell , vol.83 , pp. 79-90
    • Telling, G.C.1    Scott, M.2    Mastrianni, J.3
  • 16
    • 84901360852 scopus 로고    scopus 로고
    • Evidence that bank vole PrP is a universal acceptor for prions
    • Watts JC, Giles K, Patel S, et al., Evidence that bank vole PrP is a universal acceptor for prions. PLoS Pathog 2014; 10: e1003990.
    • (2014) PLoS Pathog , vol.10 , pp. e1003990
    • Watts, J.C.1    Giles, K.2    Patel, S.3
  • 17
    • 0029078348 scopus 로고
    • Cerebrospinal fluid concentration of neuron-specific enolase in diagnosis of Creutzfeldt-Jakob disease
    • Zerr I, Bodemer M, Räcker S, et al., Cerebrospinal fluid concentration of neuron-specific enolase in diagnosis of Creutzfeldt-Jakob disease. Lancet 1995; 345: 1609-1610.
    • (1995) Lancet , vol.345 , pp. 1609-1610
    • Zerr, I.1    Bodemer, M.2    Räcker, S.3
  • 18
    • 0037154135 scopus 로고    scopus 로고
    • Tau protein and 14-3-3 protein in the differential diagnosis of Creutzfeldt-Jakob disease
    • Otto M, Wiltfang J, Cepek L, et al., Tau protein and 14-3-3 protein in the differential diagnosis of Creutzfeldt-Jakob disease. Neurology 2002; 58: 192-197.
    • (2002) Neurology , vol.58 , pp. 192-197
    • Otto, M.1    Wiltfang, J.2    Cepek, L.3
  • 19
    • 32944463783 scopus 로고    scopus 로고
    • Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: High sensitivity and specificity for diagnosis
    • Young GS, Geschwind MD, Fischbein NJ, et al., Diffusion-weighted and fluid-attenuated inversion recovery imaging in Creutzfeldt-Jakob disease: high sensitivity and specificity for diagnosis. Am J Neuroradiol 2005; 26: 1551-1562.
    • (2005) Am J Neuroradiol , vol.26 , pp. 1551-1562
    • Young, G.S.1    Geschwind, M.D.2    Fischbein, N.J.3
  • 20
    • 79957513539 scopus 로고    scopus 로고
    • Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias
    • Vitali P, Maccagnano E, Caverzasi E, et al., Diffusion-weighted MRI hyperintensity patterns differentiate CJD from other rapid dementias. Neurology 2011; 76: 1711-1719.
    • (2011) Neurology , vol.76 , pp. 1711-1719
    • Vitali, P.1    MacCagnano, E.2    Caverzasi, E.3
  • 21
    • 0028052363 scopus 로고
    • Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins
    • Westaway D, DeArmond SJ, Cayetano-Canlas J, et al., Degeneration of skeletal muscle, peripheral nerves, and the central nervous system in transgenic mice overexpressing wild-type prion proteins. Cell 1994; 76: 117-129.
    • (1994) Cell , vol.76 , pp. 117-129
    • Westaway, D.1    DeArmond, S.J.2    Cayetano-Canlas, J.3
  • 22
    • 18744362997 scopus 로고    scopus 로고
    • BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein
    • Asante EA, Linehan JM, Desbruslais M, et al., BSE prions propagate as either variant CJD-like or sporadic CJD-like prion strains in transgenic mice expressing human prion protein. EMBO J 2002; 21: 6358-6366.
    • (2002) EMBO J , vol.21 , pp. 6358-6366
    • Asante, E.A.1    Linehan, J.M.2    Desbruslais, M.3
  • 23
    • 36348944635 scopus 로고    scopus 로고
    • Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution
    • Shiga Y, Satoh K, Kitamoto T, et al., Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol 2007; 254: 1509-1517.
    • (2007) J Neurol , vol.254 , pp. 1509-1517
    • Shiga, Y.1    Satoh, K.2    Kitamoto, T.3
  • 24
    • 77954102231 scopus 로고    scopus 로고
    • PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit
    • Beck JA, Poulter M, Campbell TA, et al., PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. Hum Mutat 2010; 31: E1551-E1563.
    • (2010) Hum Mutat , vol.31 , pp. E1551-E1563
    • Beck, J.A.1    Poulter, M.2    Campbell, T.A.3
  • 25
    • 84942376414 scopus 로고    scopus 로고
    • Exome Aggregation Consortium (ExAC). Cambridge, MA: Broad Institute, 2014. Accessed November 25, 2014
    • Exome Aggregation Consortium (ExAC). Cambridge, MA: Broad Institute, 2014. Available at: http://exac.broadinstitute.org. Accessed November 25, 2014.
  • 26
    • 0027378249 scopus 로고
    • A new point mutation of the prion protein gene in familial and sporadic cases of Creutzfeldt-Jakob disease
    • Pocchiari M, Salvatore M, Cutruzzola F, et al., A new point mutation of the prion protein gene in familial and sporadic cases of Creutzfeldt-Jakob disease. Ann Neurol 1993; 34: 802-807.
    • (1993) Ann Neurol , vol.34 , pp. 802-807
    • Pocchiari, M.1    Salvatore, M.2    Cutruzzola, F.3
  • 27
    • 0028981199 scopus 로고
    • Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene
    • Spudich S, Mastrianni JA, Wrensch M, et al., Complete penetrance of Creutzfeldt-Jakob disease in Libyan Jews carrying the E200K mutation in the prion protein gene. Mol Med 1995; 1: 607-613.
    • (1995) Mol Med , vol.1 , pp. 607-613
    • Spudich, S.1    Mastrianni, J.A.2    Wrensch, M.3
  • 28
    • 84879756120 scopus 로고    scopus 로고
    • Somatic mutation, genomic variation, and neurological disease
    • Poduri A, Evrony GD, Cai X, Walsh CA,. Somatic mutation, genomic variation, and neurological disease. Science 2013; 341: 1237758.
    • (2013) Science , vol.341 , pp. 1237758
    • Poduri, A.1    Evrony, G.D.2    Cai, X.3    Walsh, C.A.4
  • 29
    • 0025820942 scopus 로고
    • Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease
    • Palmer MS, Dryden AJ, Hughes JT, Collinge J,. Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease. Nature 1991; 352: 340-342.
    • (1991) Nature , vol.352 , pp. 340-342
    • Palmer, M.S.1    Dryden, A.J.2    Hughes, J.T.3    Collinge, J.4
  • 30
    • 44849142719 scopus 로고    scopus 로고
    • Fatal familial insomnia: Clinical features and early identification
    • Krasnianski A, Bartl M, Sanchez Juan PJ, et al., Fatal familial insomnia: clinical features and early identification. Ann Neurol 2008; 63: 658-661.
    • (2008) Ann Neurol , vol.63 , pp. 658-661
    • Krasnianski, A.1    Bartl, M.2    Sanchez Juan, P.J.3
  • 31
    • 1842644947 scopus 로고    scopus 로고
    • Inherited prion diseases. In: Prusiner SB, ed. Prion biology and diseases
    • 2nd ed. NY: Cold Spring Harbor Laboratory Press
    • Kong Q, Surewicz WK, Petersen RB, et al., Inherited prion diseases. In: Prusiner SB, ed. Prion biology and diseases, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 2004: 673-775.
    • (2004) Cold Spring Harbor , pp. 673-775
    • Kong, Q.1    Surewicz, W.K.2    Petersen, R.B.3
  • 32
    • 33645778583 scopus 로고    scopus 로고
    • Efficient transmission and characterization of Creutzfeldt-Jakob disease strains in bank voles
    • Nonno R, Di Bari MA, Cardone F, et al., Efficient transmission and characterization of Creutzfeldt-Jakob disease strains in bank voles. PLoS Pathog 2006; 2: e12.
    • (2006) PLoS Pathog , vol.2 , pp. e12
    • Nonno, R.1    Di Bari, M.A.2    Cardone, F.3
  • 33
    • 28044438694 scopus 로고    scopus 로고
    • Sporadic Creutzfeldt-Jakob disease: Clinical and diagnostic characteristics of the rare VV1 type
    • Meissner B, Westner IM, Kallenberg K, et al., Sporadic Creutzfeldt-Jakob disease: clinical and diagnostic characteristics of the rare VV1 type. Neurology 2005; 65: 1544-1550.
    • (2005) Neurology , vol.65 , pp. 1544-1550
    • Meissner, B.1    Westner, I.M.2    Kallenberg, K.3
  • 34
    • 60349131457 scopus 로고    scopus 로고
    • An unusually presenting case of sCJD - The VV1 subtype
    • Tanev KS, Yilma M,. An unusually presenting case of sCJD-the VV1 subtype. Clin Neurol Neurosurg 2009; 111: 282-291.
    • (2009) Clin Neurol Neurosurg , vol.111 , pp. 282-291
    • Tanev, K.S.1    Yilma, M.2
  • 35
    • 84904488740 scopus 로고    scopus 로고
    • Mouse models for studying the formation and propagation of prions
    • Watts JC, Prusiner SB,. Mouse models for studying the formation and propagation of prions. J Biol Chem 2014; 289: 19841-19849.
    • (2014) J Biol Chem , vol.289 , pp. 19841-19849
    • Watts, J.C.1    Prusiner, S.B.2
  • 36
    • 84883350837 scopus 로고    scopus 로고
    • Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases
    • Jackson WS, Borkowski AW, Watson NE, et al., Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases. Proc Natl Acad Sci U S A 2013; 110: 14759-14764.
    • (2013) Proc Natl Acad Sci U S A , vol.110 , pp. 14759-14764
    • Jackson, W.S.1    Borkowski, A.W.2    Watson, N.E.3
  • 37
    • 81755183039 scopus 로고    scopus 로고
    • Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease
    • Friedman-Levi Y, Meiner Z, Canello T, et al., Fatal prion disease in a mouse model of genetic E200K Creutzfeldt-Jakob disease. PLoS Pathog 2011; 7: e1002350.
    • (2011) PLoS Pathog , vol.7 , pp. e1002350
    • Friedman-Levi, Y.1    Meiner, Z.2    Canello, T.3
  • 38
    • 63449110005 scopus 로고    scopus 로고
    • Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins
    • Asante EA, Gowland I, Grimshaw A, et al., Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins. J Gen Virol 2009; 90: 546-558.
    • (2009) J Gen Virol , vol.90 , pp. 546-558
    • Asante, E.A.1    Gowland, I.2    Grimshaw, A.3
  • 39
    • 0025681138 scopus 로고
    • Spontaneous neurodegeneration in transgenic mice with mutant prion protein
    • Hsiao KK, Scott M, Foster D, et al., Spontaneous neurodegeneration in transgenic mice with mutant prion protein. Science 1990; 250: 1587-1590.
    • (1990) Science , vol.250 , pp. 1587-1590
    • Hsiao, K.K.1    Scott, M.2    Foster, D.3
  • 40
    • 0029740354 scopus 로고    scopus 로고
    • Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice
    • Telling GC, Haga T, Torchia M, et al., Interactions between wild-type and mutant prion proteins modulate neurodegeneration in transgenic mice. Genes Dev 1996; 10: 1736-1750.
    • (1996) Genes Dev , vol.10 , pp. 1736-1750
    • Telling, G.C.1    Haga, T.2    Torchia, M.3
  • 41
    • 22744448690 scopus 로고    scopus 로고
    • Immunodetection of disease-associated mutant PrP, which accelerates disease in GSS transgenic mice
    • Nazor KE, Kuhn F, Seward T, et al., Immunodetection of disease-associated mutant PrP, which accelerates disease in GSS transgenic mice. EMBO J 2005; 24: 2472-2480.
    • (2005) EMBO J , vol.24 , pp. 2472-2480
    • Nazor, K.E.1    Kuhn, F.2    Seward, T.3
  • 42
    • 84863561735 scopus 로고    scopus 로고
    • Identification of I137M and other mutations that modulate incubation periods for two human prion strains
    • Giles K, De Nicola GF, Patel S, et al., Identification of I137M and other mutations that modulate incubation periods for two human prion strains. J Virol 2012; 86: 6033-6041.
    • (2012) J Virol , vol.86 , pp. 6033-6041
    • Giles, K.1    De Nicola, G.F.2    Patel, S.3
  • 43
    • 0033485260 scopus 로고    scopus 로고
    • A single amino acid alteration (101L) introduced into murine PrP dramatically alters incubation time of transmissible spongiform encephalopathy
    • Manson JC, Jameison E, Baybutt H, et al., A single amino acid alteration (101L) introduced into murine PrP dramatically alters incubation time of transmissible spongiform encephalopathy. EMBO J 1999; 18: 6855-6864.
    • (1999) EMBO J , vol.18 , pp. 6855-6864
    • Manson, J.C.1    Jameison, E.2    Baybutt, H.3
  • 44
    • 0012710491 scopus 로고    scopus 로고
    • NMR solution structure of the human prion protein
    • Zahn R, Liu A, Lührs T, et al., NMR solution structure of the human prion protein. Proc Natl Acad Sci U S A 2000; 97: 145-150.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 145-150
    • Zahn, R.1    Liu, A.2    Lührs, T.3
  • 45
    • 77449089995 scopus 로고    scopus 로고
    • Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP
    • Jansen C, Parchi P, Capellari S, et al., Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. Acta Neuropathol 2010; 119: 189-197.
    • (2010) Acta Neuropathol , vol.119 , pp. 189-197
    • Jansen, C.1    Parchi, P.2    Capellari, S.3
  • 46
    • 73549083896 scopus 로고    scopus 로고
    • Glypican-1 mediates both prion protein lipid raft association and disease isoform formation
    • Taylor DR, Whitehouse IJ, Hooper NM,. Glypican-1 mediates both prion protein lipid raft association and disease isoform formation. PLoS Pathog 2009; 5: e1000666.
    • (2009) PLoS Pathog , vol.5 , pp. e1000666
    • Taylor, D.R.1    Whitehouse, I.J.2    Hooper, N.M.3
  • 47
    • 84861848298 scopus 로고    scopus 로고
    • Isolation of phosphatidylethanolamine as a solitary cofactor for prion formation in the absence of nucleic acids
    • Deleault NR, Piro JR, Walsh DJ, et al., Isolation of phosphatidylethanolamine as a solitary cofactor for prion formation in the absence of nucleic acids. Proc Natl Acad Sci U S A 2012; 109: 8546-8551.
    • (2012) Proc Natl Acad Sci U S A , vol.109 , pp. 8546-8551
    • Deleault, N.R.1    Piro, J.R.2    Walsh, D.J.3
  • 48
    • 0023473468 scopus 로고
    • Axonal and transneuronal transport in the transmission of neurological disease: Potential role in system degenerations, including Alzheimer's disease
    • Saper CB, Wainer BH, German DC,. Axonal and transneuronal transport in the transmission of neurological disease: potential role in system degenerations, including Alzheimer's disease. Neuroscience 1987; 23: 389-398.
    • (1987) Neuroscience , vol.23 , pp. 389-398
    • Saper, C.B.1    Wainer, B.H.2    German, D.C.3
  • 49
    • 84888594143 scopus 로고    scopus 로고
    • Biology and genetics of prions causing neurodegeneration
    • Prusiner SB,. Biology and genetics of prions causing neurodegeneration. Annu Rev Genet 2013; 47: 601-623.
    • (2013) Annu Rev Genet , vol.47 , pp. 601-623
    • Prusiner, S.B.1


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