prion protein

Summary

Gene Symbol: prion protein
Description: prion protein
Alias: ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30, major prion protein, alternative prion protein, CD230 antigen, prion-related protein
Species: human
Products:     prion protein

Top Publications

  1. Chen W, van der Kamp M, Daggett V. Diverse effects on the native ?-sheet of the human prion protein due to disease-associated mutations. Biochemistry. 2010;49:9874-81 pubmed publisher
    ..diseases are fatal neurodegenerative disorders that involve the conversion of the normal cellular form of the prion protein (PrP(C)) to a misfolded pathogenic form (PrP(Sc))...
  2. Parchi P, Strammiello R, Giese A, Kretzschmar H. Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future. Acta Neuropathol. 2011;121:91-112 pubmed publisher
    Human prion diseases are rare neurodegenerative disorders related to prion protein misfolding that can occur as sporadic, familial or acquired forms...
  3. Wells M, Jelinska C, Hosszu L, Craven C, Clarke A, Collinge J, et al. Multiple forms of copper (II) co-ordination occur throughout the disordered N-terminal region of the prion protein at pH 7.4. Biochem J. 2006;400:501-10 pubmed
    Although the physiological function of the prion protein remains unknown, in vitro experiments suggest that the protein may bind copper (II) ions and play a role in copper transport or homoeostasis in vivo...
  4. Hart T, Hosszu L, Trevitt C, Jackson G, Waltho J, Collinge J, et al. Folding kinetics of the human prion protein probed by temperature jump. Proc Natl Acad Sci U S A. 2009;106:5651-6 pubmed publisher
    Temperature-jump perturbation was used to examine the relaxation kinetics of folding of the human prion protein. Measured rates were very fast (approximately 3,000 s(-1)), with the extrapolated folding rate constant at approximately 20 ..
  5. Krupinski J, Turu M, Luque A, Badimon L, Slevin M. Increased PrPC expression correlates with endoglin (CD105) positive microvessels in advanced carotid lesions. Acta Neuropathol. 2008;116:537-45 pubmed publisher
    Normal cellular prion protein (PrP(C)) has multiple functions but its role in the development of atherosclerosis has not been studied...
  6. Mead S, Poulter M, Uphill J, Beck J, Whitfield J, Webb T, et al. Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study. Lancet Neurol. 2009;8:57-66 pubmed publisher
    Human and animal prion diseases are under genetic control, but apart from PRNP (the gene that encodes the prion protein), we understand little about human susceptibility to bovine spongiform encephalopathy (BSE) prions, the causal agent ..
  7. Weiss E, Ramljak S, Asif A, Ciesielczyk B, Schmitz M, Gawinecka J, et al. Cellular prion protein overexpression disturbs cellular homeostasis in SH-SY5Y neuroblastoma cells but does not alter p53 expression: a proteomic study. Neuroscience. 2010;169:1640-50 pubmed publisher
    The definite physiological role of the cellular prion protein (PrP(c)) remains elusive. There is ample in vitro and in vivo evidence suggesting a neuroprotective role for PrP(c)...
  8. Reiniger L, LUKIC A, Linehan J, Rudge P, Collinge J, Mead S, et al. Tau, prions and A?: the triad of neurodegeneration. Acta Neuropathol. 2011;121:5-20 pubmed publisher
    ..This includes the novel finding that tau phosphorylation consistently occurs in sporadic CJD, in the absence of amyloid plaques.
  9. Vollmert C, Windl O, Xiang W, Rosenberger A, Zerr I, Wichmann H, et al. Significant association of a M129V independent polymorphism in the 5' UTR of the PRNP gene with sporadic Creutzfeldt-Jakob disease in a large German case-control study. J Med Genet. 2006;43:e53 pubmed
    A single nucleotide polymorphism (SNP) in the coding region of the prion protein gene (PRNP) at codon 129 has been repeatedly shown to be an associated factor to sporadic Creutzfeldt-Jakob disease (sCJD), but additional major ..

More Information

Publications103 found, 100 shown here

  1. Lee S, Antony L, Hartmann R, Knaus K, Surewicz K, Surewicz W, et al. Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. EMBO J. 2010;29:251-62 pubmed publisher
    A conformational transition of normal cellular prion protein (PrP(C)) to its pathogenic form (PrP(Sc)) is believed to be a central event in the transmission of the devastating neurological diseases known as spongiform encephalopathies...
  2. Ashok A, Hegde R. Retrotranslocation of prion proteins from the endoplasmic reticulum by preventing GPI signal transamidation. Mol Biol Cell. 2008;19:3463-76 pubmed publisher
    Neurodegeneration in diseases caused by altered metabolism of mammalian prion protein (PrP) can be averted by reducing PrP expression...
  3. Qin K, Zhao L, Ash R, McDonough W, Zhao R. ATM-mediated transcriptional elevation of prion in response to copper-induced oxidative stress. J Biol Chem. 2009;284:4582-93 pubmed publisher
    Increasing evidence suggests that the cellular prion protein (PrP(C)) plays a protective role in response to oxidative stress, but the molecular mechanism is unclear...
  4. Bizat N, Peyrin J, Haïk S, Cochois V, Beaudry P, Laplanche J, et al. Neuron dysfunction is induced by prion protein with an insertional mutation via a Fyn kinase and reversed by sirtuin activation in Caenorhabditis elegans. J Neurosci. 2010;30:5394-403 pubmed publisher
    Although prion propagation is well understood, the signaling pathways activated by neurotoxic forms of prion protein (PrP) and those able to mitigate pathological phenotypes remain largely unknown...
  5. Hizume M, Kobayashi A, Teruya K, Ohashi H, Ironside J, Mohri S, et al. Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection. J Biol Chem. 2009;284:3603-9 pubmed publisher
    b>Prion protein gene (PRNP) E219K is a human polymorphism commonly occurring in Asian populations but is rarely found in patients with sporadic Creutzfeldt-Jakob disease (CJD)...
  6. Wang X, Dong C, Shi Q, Shi S, Wang G, Lei Y, et al. Cytosolic prion protein induces apoptosis in human neuronal cell SH-SY5Y via mitochondrial disruption pathway. BMB Rep. 2009;42:444-9 pubmed
    ..Reverse-transfected cytosolic prion protein (PrP) and PrP expressed in the cytosol have been shown to be neurotoxic...
  7. Kojima A, Mabuchi Y, Konishi M, Okihara R, Nagano M, Akizawa T. Metal-binding ability of human prion protein fragment peptides analyzed by column switch HPLC. Chem Pharm Bull (Tokyo). 2011;59:965-71 pubmed
    The structural conversion of the prion protein (PrP) from the normal cellular isoform (PrP(C)) to the posttranslationally modified form (PrP(Sc)) is thought to relate to Cu²? binding to histidine (H) residues...
  8. Appleby B, Appleby K, Hall R, Wallin M. D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease. Dement Geriatr Cogn Disord. 2010;30:424-31 pubmed publisher
    ..disease (CJD(D178N,)(129V)) are two phenotypes that share a common point mutation at codon 178 of the prion protein gene (PRNP), but differ in their polymorphism at codon 129 of the mutant allele...
  9. Li B, Qing L, Yan J, Kong Q. Instability of the octarepeat region of the human prion protein gene. PLoS ONE. 2011;6:e26635 pubmed publisher
    ..The etiology of sCJD remains to be elucidated. The human prion protein gene has an octapeptide repeat region (octarepeats) that normally contains 5 repeats of 24-27 bp (1 ..
  10. Liu Y, Han Y, Song J, Wang Y, Jing Y, Shi Q, et al. Heat shock protein 104 inhibited the fibrillization of prion peptide 106-126 and disassembled prion peptide 106-126 fibrils in vitro. Int J Biochem Cell Biol. 2011;43:768-74 pubmed publisher
    ..Prion peptide of aa 106-126 (PrP106-126) exhibits many PrP(Sc)-like biochemical features, forming amyloid-like fibrils in vitro...
  11. Westergard L, Turnbaugh J, Harris D. A nine amino acid domain is essential for mutant prion protein toxicity. J Neurosci. 2011;31:14005-17 pubmed publisher
    Transgenic mice expressing prion protein (PrP) molecules with several different internal deletions display spontaneous neurodegenerative phenotypes that can be dose-dependently suppressed by coexpression of wild-type PrP...
  12. Pflanzner T, Petsch B, André Dohmen B, Müller Schiffmann A, Tschickardt S, Weggen S, et al. Cellular prion protein participates in amyloid-? transcytosis across the blood-brain barrier. J Cereb Blood Flow Metab. 2012;32:628-32 pubmed publisher
    ..Here, we found that the cellular prion protein (PrP(c)), a putative receptor implicated in mediating A? neurotoxicity in Alzheimer's disease (AD), ..
  13. Lauren J, Gimbel D, Nygaard H, Gilbert J, Strittmatter S. Cellular prion protein mediates impairment of synaptic plasticity by amyloid-beta oligomers. Nature. 2009;457:1128-32 pubmed publisher
    ..Here we identify the cellular prion protein (PrP(C)) as an amyloid-beta-oligomer receptor by expression cloning...
  14. Massignan T, Biasini E, Lauranzano E, Veglianese P, Pignataro M, Fioriti L, et al. Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway. Mol Cell Proteomics. 2010;9:611-22 pubmed publisher
    The prion protein (PrP) is a glycosylphosphatidylinositol-anchored membrane glycoprotein that plays a vital role in prion diseases, a class of fatal neurodegenerative disorders of humans and animals...
  15. Gacia M, Safranow K, Styczynska M, Jakubowska K, Pepłońska B, Chodakowska Zebrowska M, et al. Prion protein gene M129 allele is a risk factor for Alzheimer's disease. J Neural Transm (Vienna). 2006;113:1747-51 pubmed
    b>Prion protein gene polymorphism M129V represents a known risk factor for Creutzfeldt-Jakob disease. Recently, the meta-analysis revealed that homozygosity at codon 129 is connected with increased risk of Alzheimer's disease (AD)...
  16. Liberski P. Gerstmann-Sträussler-Scheinker disease. Adv Exp Med Biol. 2012;724:128-37 pubmed publisher
    ..and the first human transmissible spongiform encephalopathy (TSE) in which a mutation in a gene encoding for prion protein (PrP) was discovered...
  17. Helmus J, Surewicz K, Nadaud P, Surewicz W, Jaroniec C. Molecular conformation and dynamics of the Y145Stop variant of human prion protein in amyloid fibrils. Proc Natl Acad Sci U S A. 2008;105:6284-9 pubmed publisher
    A C-terminally truncated Y145Stop variant of the human prion protein (huPrP23-144) is associated with a hereditary amyloid disease known as PrP cerebral amyloid angiopathy...
  18. Jeong B, Lee K, Lee Y, Kim Y, Cho Y, Carp R, et al. PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population. Eur J Neurol. 2008;15:846-50 pubmed publisher
    Human prion protein gene (PRNP) is considered a critical and fundamental gene in determining the incidence of human prion diseases...
  19. Golanska E, Hulas Bigoszewska K, Sieruta M, Zawlik I, Witusik M, Gresner S, et al. Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes. J Alzheimers Dis. 2009;17:359-68 pubmed publisher
    ..Moreover, there may be multiple sufficient risk sets for AD. Looking at multiple genes together rather than analyzing them individually, may improve identification of risk alleles. ..
  20. Jeong B, Lee K, Jeong Y, Hwang K, Lee Y, Carp R, et al. Polymorphisms at codons 129 and 219 of the prion protein gene (PRNP) are not associated with sporadic Alzheimer's disease in the Korean population. Eur J Neurol. 2007;14:621-6 pubmed
    Polymorphisms of prion protein gene (PRNP) at codons 129 and 219 play an important role in the susceptibility to Creutzfeldt-Jakob disease (CJD)...
  21. Gambetti P, Cali I, Notari S, Kong Q, Zou W, Surewicz W. Molecular biology and pathology of prion strains in sporadic human prion diseases. Acta Neuropathol. 2011;121:79-90 pubmed publisher
    ..to propagate by the mechanism involving self-perpetuating conformational conversion of the normal form of the prion protein, PrP(C), to the misfolded, pathogenic state, PrP(Sc)...
  22. Mead S, Webb T, Campbell T, Beck J, Linehan J, Rutherfoord S, et al. Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129. Neurology. 2007;69:730-8 pubmed
    ..pathologic data from three families with different 5-octapeptide repeat insertion (5-OPRI) mutations of the prion protein gene (PRNP), extending the reported phenotypic range of this mutation...
  23. Lewis P, Tattum M, Jones S, Bhelt D, Batchelor M, Clarke A, et al. Codon 129 polymorphism of the human prion protein influences the kinetics of amyloid formation. J Gen Virol. 2006;87:2443-9 pubmed
    The human prion protein (PrP) has a common polymorphism at residue 129, which can be valine or methionine. This polymorphism has a strong influence on susceptibility to prion diseases and on prion-strain properties...
  24. Zhang Y, Qin K, Wang J, Hung T, Zhao R. Dividing roles of prion protein in staurosporine-mediated apoptosis. Biochem Biophys Res Commun. 2006;349:759-68 pubmed
    b>Prion protein (PrPC) is a normal cellular glycoprotein that is expressed in almost all tissues including the central nervous system...
  25. Lu X, Wintrode P, Surewicz W. Beta-sheet core of human prion protein amyloid fibrils as determined by hydrogen/deuterium exchange. Proc Natl Acad Sci U S A. 2007;104:1510-5 pubmed
    Propagation of transmissible spongiform encephalopathies is associated with the conversion of normal prion protein, PrP(C), into a misfolded, oligomeric form, PrP(Sc)...
  26. Yang W, Cook J, Rassbach B, Lemus A, Dearmond S, Mastrianni J. A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP. J Neurosci. 2009;29:10072-80 pubmed publisher
    ..clinically by the development of progressive ataxia and dementia, and histopathologically by the presence of prion protein (PrP) amyloid plaques in the CNS, especially within the cerebellum...
  27. Wells M, Jackson G, Jones S, Hosszu L, Craven C, Clarke A, et al. A reassessment of copper(II) binding in the full-length prion protein. Biochem J. 2006;399:435-44 pubmed
    It has been shown previously that the unfolded N-terminal domain of the prion protein can bind up to six Cu2+ ions in vitro...
  28. Deriziotis P, Andre R, Smith D, Goold R, Kinghorn K, Kristiansen M, et al. Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry. EMBO J. 2011;30:3065-77 pubmed publisher
    Prion diseases are associated with the conversion of cellular prion protein (PrP(C)) to toxic ?-sheet isoforms (PrP(Sc)), which are reported to inhibit the ubiquitin-proteasome system (UPS)...
  29. Um J, Nygaard H, Heiss J, Kostylev M, Stagi M, Vortmeyer A, et al. Alzheimer amyloid-? oligomer bound to postsynaptic prion protein activates Fyn to impair neurons. Nat Neurosci. 2012;15:1227-35 pubmed publisher
    Amyloid-beta (A?) oligomers are thought to trigger Alzheimer's disease pathophysiology. Cellular prion protein (PrP(C)) selectively binds oligomeric A? and can mediate Alzheimer's disease-related phenotypes...
  30. Meyne F, Gloeckner S, Ciesielczyk B, Heinemann U, Krasnianski A, Meissner B, et al. Total prion protein levels in the cerebrospinal fluid are reduced in patients with various neurological disorders. J Alzheimers Dis. 2009;17:863-73 pubmed publisher
    We performed a study on levels of the total prion protein (PrP) in humans affected by different neurological diseases and assessed the influence of several factors such as age, gender, and disease severity on the cerebrospinal fluid PrP ..
  31. Jansen C, Parchi P, Capellari S, Vermeij A, Corrado P, Baas F, et al. Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP. Acta Neuropathol. 2010;119:189-97 pubmed publisher
    Stop codon mutations in the gene encoding the prion protein (PRNP) are very rare and have thus far only been described in two patients with prion protein cerebral amyloid angiopathy (PrP-CAA)...
  32. Bishop M, Pennington C, Heath C, Will R, Knight R. PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism. BMC Med Genet. 2009;10:146 pubmed publisher
    Genetic analysis of the human prion protein gene (PRNP) in suspect cases of Creutzfeldt-Jakob disease (CJD) is necessary for accurate diagnosis and case classification...
  33. Giannattasio C, Poleggi A, Puopolo M, Pocchiari M, Antuono P, Dal Forno G, et al. Survival in Alzheimer's disease is shorter in women carrying heterozygosity at codon 129 of the PRNP gene and no APOE epsilon 4 allele. Dement Geriatr Cogn Disord. 2008;25:354-8 pubmed publisher
    We assessed the role of the APOE genotype and prion protein polymorphism at codon 129 in predicting the clinical duration of 92 neuropathologically confirmed sporadic Alzheimer's disease patients...
  34. Bellingham S, Coleman L, Masters C, Camakaris J, Hill A. Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1. J Biol Chem. 2009;284:1291-301 pubmed publisher
    Prion diseases are associated with the conformational conversion of the host-encoded cellular prion protein into an abnormal pathogenic isoform...
  35. Collins S, Schuur M, Boyd A, Lewis V, Klug G, McGlade A, et al. No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease. Neurosci Lett. 2010;472:16-8 pubmed publisher
    ..of a similar disorder occurs in around 50-90% of patients harboring the most common, disease-associated, prion protein gene (PRNP) mutations...
  36. Griffiths H, Whitehouse I, Baybutt H, Brown D, Kellett K, Jackson C, et al. Prion protein interacts with BACE1 protein and differentially regulates its activity toward wild type and Swedish mutant amyloid precursor protein. J Biol Chem. 2011;286:33489-500 pubmed publisher
    ..We have reported previously that the cellular prion protein (PrP(C)) inhibited the action of BACE1 toward human wild type APP (APP(WT)) in cellular models and that the ..
  37. Bertram L, McQueen M, Mullin K, Blacker D, Tanzi R. Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database. Nat Genet. 2007;39:17-23 pubmed
    ..67 for protective alleles). Our database provides a powerful tool for deciphering the genetics of Alzheimer disease, and it serves as a potential model for tracking the most viable gene candidates in other genetically complex diseases. ..
  38. Meslin F, Hamai A, Gao P, Jalil A, Cahuzac N, Chouaib S, et al. Silencing of prion protein sensitizes breast adriamycin-resistant carcinoma cells to TRAIL-mediated cell death. Cancer Res. 2007;67:10910-9 pubmed
    ..to the proapoptotic action of tumor necrosis factor-related apoptosis inducing ligand (TRAIL) and cellular prion protein (PrPc) function, using the TRAIL-sensitive MCF-7 human breast adenocarcinoma cell line and two TRAIL-resistant ..
  39. Poleggi A, Bizzarro A, Acciarri A, Antuono P, Bagnoli S, Cellini E, et al. Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease. Eur J Neurol. 2008;15:173-8 pubmed publisher
    Codon 129 polymorphism of the prion protein gene represents a major genetic risk factor for Creutzfeldt-Jakob disease (CJD)...
  40. Colombo G, Meli M, Morra G, Gabizon R, Gasset M. Methionine sulfoxides on prion protein Helix-3 switch on the alpha-fold destabilization required for conversion. PLoS ONE. 2009;4:e4296 pubmed publisher
    The conversion of the cellular prion protein (PrP(C)) into the infectious form (PrP(Sc)) is the key event in prion induced neurodegenerations...
  41. Liang J, Wang J, Luo G, Pan Y, Wang X, Guo C, et al. Function of PrPC (1-OPRD) in biological activities of gastric cancer cell lines. J Cell Mol Med. 2009;13:4453-64 pubmed publisher
    ..disease is inherited and one of the important genetic mutations occurs in the octapeptide repeat region of prion protein gene...
  42. Cali I, Castellani R, Alshekhlee A, Cohen Y, Blevins J, Yuan J, et al. Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics. Brain. 2009;132:2643-58 pubmed publisher
    ..Creutzfeldt-Jakob disease (sCJD), based on the methionine/valine polymorphic genotype of codon 129 of the prion protein (PrP) gene and the presence of either one of the two protease K-resistant scrapie prion protein (PrP(Sc)) ..
  43. Kaski D, Mead S, Hyare H, Cooper S, Jampana R, Overell J, et al. Variant CJD in an individual heterozygous for PRNP codon 129. Lancet. 2009;374:2128 pubmed publisher
  44. Schmidt C, Redyk K, Meissner B, Krack L, von Ahsen N, Roeber S, et al. Clinical features of rapidly progressive Alzheimer's disease. Dement Geriatr Cogn Disord. 2010;29:371-8 pubmed publisher
    ..To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer's dementia (rpAD)...
  45. Xu K, Wang X, Shi Q, Chen C, Tian C, Li X, et al. Human prion protein mutants with deleted and inserted octarepeats undergo different pathways to trigger cell apoptosis. J Mol Neurosci. 2011;43:225-34 pubmed publisher
    Octarepeats region sequence is one of the most important characteristics of PrP topology...
  46. Antonacopoulou A, Palli M, Marousi S, Dimitrakopoulos F, Kyriakopoulou U, Tsamandas A, et al. Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer. Mol Carcinog. 2010;49:693-9 pubmed publisher
    The prion protein, PrP(C), is known mostly for its involvement in neurodegenerative spongiform encephalopathies...
  47. Barry A, Klyubin I, Mc Donald J, Mably A, Farrell M, Scott M, et al. Alzheimer's disease brain-derived amyloid-?-mediated inhibition of LTP in vivo is prevented by immunotargeting cellular prion protein. J Neurosci. 2011;31:7259-63 pubmed publisher
    Synthetic amyloid-? protein (A?) oligomers bind with high affinity to cellular prion protein (PrP(C)), but the role of this interaction in mediating the disruption of synaptic plasticity by such soluble A? in vitro is controversial...
  48. Cobb N, SONNICHSEN F, McHaourab H, Surewicz W. Molecular architecture of human prion protein amyloid: a parallel, in-register beta-structure. Proc Natl Acad Sci U S A. 2007;104:18946-51 pubmed
    ..diseases that are associated with conformational conversion of the normally monomeric and alpha-helical prion protein, PrP(C), to the beta-sheet-rich PrP(Sc)...
  49. Wang X, Dong C, Zhang J, Wan Y, Li F, Huang Y, et al. Human tau protein forms complex with PrP and some GSS- and fCJD-related PrP mutants possess stronger binding activities with tau in vitro. Mol Cell Biochem. 2008;310:49-55 pubmed
    ..The octapeptide repeats within PrP directly affected the binding activity of PrP with tau. GSS-related mutant PrP102L and fCJD- related mutants with two and seven extra octarepeats showed more active binding ..
  50. Asante E, Gowland I, Grimshaw A, Linehan J, Smidak M, Houghton R, et al. Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins. J Gen Virol. 2009;90:546-58 pubmed publisher
    Approximately 15 % of human prion disease is associated with autosomal-dominant pathogenic mutations in the prion protein (PrP) gene...
  51. Bishop M, Will R, Manson J. Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties. Proc Natl Acad Sci U S A. 2010;107:12005-10 pubmed publisher
    ..To categorize sCJD cases, the prion protein (PrP) codon 129 genotype and the biochemical characteristics of the disease-associated form of PrP (PrP(Sc)) ..
  52. Chen S, Yadav S, Surewicz W. Interaction between human prion protein and amyloid-beta (Abeta) oligomers: role OF N-terminal residues. J Biol Chem. 2010;285:26377-83 pubmed publisher
    ..that at least some of the neurotoxic effects of these oligomers may be mediated by specific binding to the prion protein, PrP(C), on the cell surface (Laurén, J., Gimbel, D. A., Nygaard, H. B., Gilbert, J. W., and Strittmatter, S...
  53. Beck J, Poulter M, Campbell T, Adamson G, Uphill J, Guerreiro R, et al. PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. Hum Mutat. 2010;31:E1551-63 pubmed publisher
    Mutation of the human prion protein gene (PRNP) open reading frame (ORF) accounts for almost all reported familial concurrence of prion disease...
  54. Canello T, Frid K, Gabizon R, Lisa S, Friedler A, Moskovitz J, et al. Oxidation of Helix-3 methionines precedes the formation of PK resistant PrP. PLoS Pathog. 2010;6:e1000977 pubmed publisher
    ..at both Met residues 206 and 213 destabilize the alpha-fold, suggesting oxidation may facilitate the conversion of PrPC into PrPSc...
  55. Wadsworth J, Collinge J. Molecular pathology of human prion disease. Acta Neuropathol. 2011;121:69-77 pubmed publisher
    ..prion disease relates in significant part to the existence of distinct human prion strains encoded by abnormal PrP isoforms with differing physicochemical properties...
  56. Westermark G, Westermark P. Prion-like aggregates: infectious agents in human disease. Trends Mol Med. 2010;16:501-7 pubmed publisher
    ..The misfolding and aggregation of the prion protein are akin to the genesis of amyloid fibrils formed by several human and animal proteins associated with more ..
  57. van der Kamp M, Daggett V. Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding. J Mol Biol. 2010;404:732-48 pubmed publisher
    Transmissible spongiform encephalopathies, or prion diseases, are caused by misfolding and aggregation of the prion protein PrP...
  58. Solomon I, Khatri N, Biasini E, Massignan T, Huettner J, Harris D. An N-terminal polybasic domain and cell surface localization are required for mutant prion protein toxicity. J Biol Chem. 2011;286:14724-36 pubmed publisher
    There is evidence that alterations in the normal physiological activity of PrP(C) contribute to prion-induced neurotoxicity...
  59. Colucci M, Moleres F, Xie Z, Ray Chaudhury A, Gutti S, Butefisch C, et al. Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits. J Neuropathol Exp Neurol. 2006;65:642-51 pubmed
    Gerstmann-Sträussler-Scheinker (GSS) is a hereditary prion disease typically associated with prion protein (PrP)-containing plaques...
  60. Mauro C, Giaccone G, Piscosquito G, Lavorgna A, Nigro M, Di Fede G, et al. A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings. J Neurol Neurosurg Psychiatry. 2008;79:1395-8 pubmed publisher
    ..marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP)...
  61. Singh A, Mohan M, Isaac A, Luo X, Petrak J, Vyoral D, et al. Prion protein modulates cellular iron uptake: a novel function with implications for prion disease pathogenesis. PLoS ONE. 2009;4:e4468 pubmed publisher
    Converging evidence leaves little doubt that a change in the conformation of prion protein (PrP(C)) from a mainly alpha-helical to a beta-sheet rich PrP-scrapie (PrP(Sc)) form is the main event responsible for prion disease associated ..
  62. Mead S, Whitfield J, Poulter M, Shah P, Uphill J, Campbell T, et al. A novel protective prion protein variant that colocalizes with kuru exposure. N Engl J Med. 2009;361:2056-65 pubmed publisher
    ..in Papua New Guinea are predominantly heterozygotes at the known resistance factor at codon 129 of the prion protein gene (PRNP)...
  63. Li X, Wang G, Jing Y, Pan M, Dong C, Zhou R, et al. Cytosolic PrP induces apoptosis of cell by disrupting microtubule assembly. J Mol Neurosci. 2011;43:316-25 pubmed publisher
    b>Prion protein (PrP) is able to bind with tubulin and to interfere with the formation of microtubule. To investigate the influence of accumulation of cytosolic PrP in cytoplasm on microtubule, plasmid pcDNA3...
  64. Jones E, Wu B, Surewicz K, Nadaud P, Helmus J, Chen S, et al. Structural polymorphism in amyloids: new insights from studies with Y145Stop prion protein fibrils. J Biol Chem. 2011;286:42777-84 pubmed publisher
    The C-terminally-truncated human prion protein variant Y145Stop (or PrP23-144), associated with a familial prion disease, provides a valuable model for studying the fundamental properties of protein amyloids...
  65. Iwasaki Y. Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying. J Neurol Sci. 2012;319:47-50 pubmed publisher
    ..observed in patients with Creutzfeldt-Jakob disease (CJD), the author experienced three patients with CJD with prion protein gene codon180 mutation (V180I CJD) who showed this characteristic clinical finding...
  66. Orsi A, Fioriti L, Chiesa R, Sitia R. Conditions of endoplasmic reticulum stress favor the accumulation of cytosolic prion protein. J Biol Chem. 2006;281:30431-8 pubmed
    After signal sequence-dependent targeting to the endoplasmic reticulum (ER), prion protein (PrP) undergoes several post-translational modifications, including glycosylation, disulfide bond formation, and the addition of a ..
  67. Shiga Y, Satoh K, Kitamoto T, Kanno S, Nakashima I, Sato S, et al. Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution. J Neurol. 2007;254:1509-17 pubmed
    ..disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP)...
  68. Debatin L, Streffer J, Geissen M, Matschke J, Aguzzi A, Glatzel M. Association between deposition of beta-amyloid and pathological prion protein in sporadic Creutzfeldt-Jakob disease. Neurodegener Dis. 2008;5:347-54 pubmed publisher
    ..of the amyloid precursor protein, beta-amyloid (Abeta), which deposits in AD, and the abnormal form of the prion protein, PrP(Sc), which deposits in sCJD...
  69. Rambold A, Miesbauer M, Olschewski D, Seidel R, Riemer C, Smale L, et al. Green tea extracts interfere with the stress-protective activity of PrP and the formation of PrP. J Neurochem. 2008;107:218-29 pubmed publisher
    A hallmark in prion diseases is the conformational transition of the cellular prion protein (PrP(C)) into a pathogenic conformation, designated scrapie prion protein (PrP(Sc)), which is the essential constituent of infectious prions...
  70. Yu S, Yin S, Pham N, Wong P, Kang S, Petersen R, et al. Ligand binding promotes prion protein aggregation--role of the octapeptide repeats. FEBS J. 2008;275:5564-75 pubmed publisher
    Aggregation of the normal cellular prion protein, PrP, is important in the pathogenesis of prion disease. PrP binds glycosaminoglycan (GAG) and divalent cations, such as Cu(2+) and Zn(2+)...
  71. Burgess S, Shen C, Ferguson L, O Neill G, Docherty K, Hunter N, et al. Identification of adjacent binding sites for the YY1 and E4BP4 transcription factors in the ovine PrP (Prion) gene promoter. J Biol Chem. 2009;284:6716-24 pubmed publisher
    The PrP gene encodes the cellular isoform of the prion protein (PrP(c)) which has been shown to be crucial to the development of transmissible spongiform encephalopathies (TSEs)...
  72. Li C, Yu S, Nakamura F, Yin S, Xu J, Petrolla A, et al. Binding of pro-prion to filamin A disrupts cytoskeleton and correlates with poor prognosis in pancreatic cancer. J Clin Invest. 2009;119:2725-36 pubmed publisher
    The cellular prion protein (PrP) is a highly conserved, widely expressed, glycosylphosphatidylinositol-anchored (GPI-anchored) cell surface glycoprotein...
  73. Helmus J, Surewicz K, Apostol M, Surewicz W, Jaroniec C. Intermolecular alignment in Y145Stop human prion protein amyloid fibrils probed by solid-state NMR spectroscopy. J Am Chem Soc. 2011;133:13934-7 pubmed publisher
    The Y145Stop mutant of human prion protein, huPrP23-144, has been linked to PrP cerebral amyloid angiopathy, an inherited amyloid disease, and also serves as a valuable in vitro model for investigating the molecular basis of amyloid ..
  74. Breitling L, Muller H, Stegmaier C, Kliegel M, Brenner H. Association of prion protein with cognitive functioning in humans. Exp Gerontol. 2012;47:919-24 pubmed publisher
    Recent animal studies have suggested a key role for cellular prion protein (PrPc) in the pathological consequences of amyloid plaque formation, the hallmark of Alzheimer's disease...
  75. Um J, Strittmatter S. Amyloid-? induced signaling by cellular prion protein and Fyn kinase in Alzheimer disease. Prion. 2013;7:37-41 pubmed publisher
    ..Amyloid-? (A?) oligomers are potent synaptotoxins thought to mediate AD-related phenotypes. Cellular prion protein (PrP(C)) has been identified as a high-affinity receptor for A? oligomers...
  76. Jeong B, Na H, Bae J, Lee K, Lee Y, Kim N, et al. Absence of association between codon 129 and 219 polymorphisms of the prion protein gene and vascular dementia. Dement Geriatr Cogn Disord. 2007;24:86-90 pubmed
    Polymorphisms of the prion protein gene (PRNP) are known to cause a strong susceptibility to the occurrence of prion diseases, such as Creutzfeldt-Jakob disease, and might be associated with other neurodegenerative disorders...
  77. DeMarco M, Daggett V. Characterization of cell-surface prion protein relative to its recombinant analogue: insights from molecular dynamics simulations of diglycosylated, membrane-bound human prion protein. J Neurochem. 2009;109:60-73 pubmed publisher
    The prion protein (PrP) is responsible for several fatal neurodegenerative diseases via conversion from its normal to disease-related isoform. The recombinant form of the protein is typically studied to investigate the conversion process...
  78. Roberts T, Eugenin E, Morgello S, Clements J, Zink M, Berman J. PrPC, the cellular isoform of the human prion protein, is a novel biomarker of HIV-associated neurocognitive impairment and mediates neuroinflammation. Am J Pathol. 2010;177:1848-60 pubmed publisher
    ..PrP(C) (protease resistant protein, cellular isoform) is the nonpathological cellular isoform of the human prion protein that participates in many physiological processes that are disrupted during HIV-1 infection...
  79. Sanchez Juan P, Bishop M, Croes E, Knight R, Will R, van Duijn C, et al. A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease. BMC Med Genet. 2011;12:73 pubmed publisher
    ..An important determinant for CJD risk and phenotype is the M129V polymorphism of the human prion protein gene (PRNP), but there are also other coding and non-coding polymorphisms inside this gene...
  80. Saijo E, Scheff S, Telling G. Unaltered prion protein expression in Alzheimer disease patients. Prion. 2011;5:109-16 pubmed
    The suggested role of cellular prion protein (PrP (C) ) in mediating the toxic effects of oligomeric amyloid ? peptide (A?) in Alzheimer disease (AD) is controversial...
  81. Torres M, Cartier L, Matamala J, Hernández N, Woehlbier U, Hetz C. Altered Prion protein expression pattern in CSF as a biomarker for Creutzfeldt-Jakob disease. PLoS ONE. 2012;7:e36159 pubmed publisher
    ..the relation between the levels of 14-3-3 protein, Lactate dehydrogenase (LDH) activity and expression of the prion protein (PrP) in CSF of sporadic and familial CJD cases...
  82. Mitsios N, Saka M, Krupinski J, Pennucci R, Sanfeliu C, Miguel Turu M, et al. Cellular prion protein is increased in the plasma and peri-infarcted brain tissue after acute stroke. J Neurosci Res. 2007;85:602-11 pubmed
    The physiologic properties of the normal cellular prion protein (PrP(C)) have not been established fully, although recent evidence showed its upregulation in cerebral ischaemia...
  83. Liang J, Pan Y, Zhang D, Guo C, Shi Y, Wang J, et al. Cellular prion protein promotes proliferation and G1/S transition of human gastric cancer cells SGC7901 and AGS. FASEB J. 2007;21:2247-56 pubmed
    The function of cellular prion protein (PrP(C)), the essential protein for the pathogenesis and transmission of prion diseases, is still largely unknown...
  84. Schjeide B, McQueen M, Mullin K, DiVito J, Hogan M, Parkinson M, et al. Assessment of Alzheimer's disease case-control associations using family-based methods. Neurogenetics. 2009;10:19-25 pubmed publisher
    ..Further fine-mapping and functional analyses are warranted to elucidate the potential biochemical mechanisms and epidemiological relevance of these genes. ..
  85. Chakrabarti O, Hegde R. Functional depletion of mahogunin by cytosolically exposed prion protein contributes to neurodegeneration. Cell. 2009;137:1136-47 pubmed publisher
    The pathways leading from aberrant Prion protein (PrP) metabolism to neurodegeneration are poorly understood. Some familial PrP mutants generate increased (Ctm)PrP, a transmembrane isoform associated with disease...
  86. Jackson W, Borkowski A, Faas H, Steele A, King O, Watson N, et al. Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice. Neuron. 2009;63:438-50 pubmed publisher
    A crucial tenet of the prion hypothesis is that misfolding of the prion protein (PrP) induced by mutations associated with familial prion disease is, in an otherwise normal mammalian brain, sufficient to generate the infectious agent...
  87. Walsh P, Simonetti K, Sharpe S. Core structure of amyloid fibrils formed by residues 106-126 of the human prion protein. Structure. 2009;17:417-26 pubmed publisher
    Peptides comprising residues 106-126 of the human prion protein (PrP) exhibit many features of the full-length protein...
  88. Quaglio E, Restelli E, Garofoli A, Dossena S, De Luigi A, Tagliavacca L, et al. Expression of mutant or cytosolic PrP in transgenic mice and cells is not associated with endoplasmic reticulum stress or proteasome dysfunction. PLoS ONE. 2011;6:e19339 pubmed publisher
    The cellular pathways activated by mutant prion protein (PrP) in genetic prion diseases, ultimately leading to neuronal dysfunction and degeneration, are not known...
  89. Daidone I, Di Nola A, Smith J. Molecular origin of Gerstmann-Sträussler-Scheinker syndrome: insight from computer simulation of an amyloidogenic prion peptide. Biophys J. 2011;100:3000-7 pubmed publisher
    ..Here, we characterize the folding of a peptide consisting of residues 109-122 of the Syrian hamster prion protein (the H1 peptide) and of a more amyloidogenic A117V point mutant that leads in humans to an inheritable form of ..
  90. Mead S, Gandhi S, Beck J, Caine D, Gallujipali D, Carswell C, et al. A novel prion disease associated with diarrhea and autonomic neuropathy. N Engl J Med. 2013;369:1904-14 pubmed publisher
    ..of cases of recognized prion disease are inherited and associated with coding mutations in the gene encoding prion protein (PRNP)...
  91. Bratosiewicz Wasik J, Liberski P, Golanska E, Jansen G, Wasik T. Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease. Neurosci Lett. 2007;411:163-7 pubmed
    The prion diseases are fatal neurodegenerative disorders that afflict both humans and animals. They comprise kuru, Creutzfeldt-Jakob disease (CJD), Gerstmman-Straussler-Scheinker syndrome (GSS), and fatal familial insomnia (FFI)...
  92. Wolschner C, Giese A, Kretzschmar H, Huber R, Moroder L, Budisa N. Design of anti- and pro-aggregation variants to assess the effects of methionine oxidation in human prion protein. Proc Natl Acad Sci U S A. 2009;106:7756-61 pubmed publisher
    Prion disease is characterized by the alpha-->beta structural conversion of the cellular prion protein (PrP(C)) into the misfolded and aggregated "scrapie" (PrP(Sc)) isoform...