Genomes and Genes
Gene Symbol: prion protein
Description: prion protein
Alias: ASCR, AltPrP, CD230, CJD, GSS, KURU, PRIP, PrP, PrP27-30, PrP33-35C, PrPc, p27-30, CD230 antigen, major prion protein, prion-related protein
Publications294 found, 100 shown here
- Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP geneL G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD 20892
Proc Natl Acad Sci U S A 88:10926-30. 1991The PRNP gene, encoding the amyloid precursor protein that is centrally involved in Creutzfeldt-Jakob disease (CJD), has an unstable region of five variant tandem octapeptide coding repeats between codons 51 and 91...
- First experimental transmission of fatal familial insomniaJ Tateishi
Department of Neuropathology, Kyushu University, Fukuoka, Japan
Nature 376:434-5. 1995..Here we report the successful transmission of the disease to experimental animals, placing FFI within the group of infectious cerebral amyloidoses...
- Translation termination efficiency can be regulated in Saccharomyces cerevisiae by environmental stress through a prion-mediated mechanismS S Eaglestone
Research School of Biosciences, University of Kent, Canterbury, Kent CT2 7NJ, UK
EMBO J 18:1974-81. 1999..We present a model to describe the prion-mediated regulation of translation termination efficiency and discuss its implications in relation to the potential physiological role of prions in S.cerevisiae and other fungi...
- Conformational diversity in a yeast prion dictates its seeding specificityP Chien
Department of Cellular and Molecular Pharmacology, University of California San Francisco, 94143 0450, USA
Nature 410:223-7. 2001..argue that heritable prion strains result from self-propagating conformational differences within the prion protein itself...
- Comparative analysis of normal prion protein expression on human, rodent, and ruminant blood cells by using a panel of prion antibodiesG Robin Barclay
Scottish National Blood Transfusion Service Cell Therapy Group, University of Edinburgh, Western General Hospital, Edinburgh, United Kingdom
Transfusion 42:517-26. 2002..The expression of normal cellular prion protein (PrPC) by different blood cell types may permit selective uptake and dissemination of infectivity.
- Identification of distinct N-terminal truncated forms of prion protein in different Creutzfeldt-Jakob disease subtypesGianluigi Zanusso
Department of Neurological and Visual Sciences, Section of Neurology and Agricultural and Industrial Biotechnologies, University of Verona, 37134 Verona, Italy
J Biol Chem 279:38936-42. 2004In prion diseases, the cellular prion protein (PrP(C)) is converted to an insoluble and protease-resistant abnormal isoform termed PrP(Sc)...
- NMR solution structure of the human prion proteinR Zahn
Institut fur Molekularbiologie und Biophysik, Eidgenossische Technische Hochschule Honggerberg, CH 8093 Zurich, Switzerland
Proc Natl Acad Sci U S A 97:145-50. 2000The NMR structures of the recombinant human prion protein, hPrP(23-230), and two C-terminal fragments, hPrP(90-230) and hPrP(121-230), include a globular domain extending from residues 125-228, for which a detailed structure was obtained,..
- Interaction between human prion protein and amyloid-beta (Abeta) oligomers: role OF N-terminal residuesShugui Chen
Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 285:26377-83. 2010..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...
- Oxidation of Helix-3 methionines precedes the formation of PK resistant PrPTamar Canello
Department of Neurology, The Agnes Ginges Center for Human Neurogenetics, Hadassah University Hospital, and Institute of Chemistry, The Hebrew University of Jerusalem, Jerusalem, Israel
PLoS Pathog 6:e1000977. 2010..at both Met residues 206 and 213 destabilize the alpha-fold, suggesting oxidation may facilitate the conversion of PrPC into PrPSc...
- Defining sporadic Creutzfeldt-Jakob disease strains and their transmission propertiesMatthew T Bishop
National Creutzfeldt Jakob Disease Surveillance Unit, Western General Hospital, University of Edinburgh, Edinburgh EH4 2XU, United Kingdom
Proc Natl Acad Sci U S A 107:12005-10. 2010..To categorize sCJD cases, the prion protein (PrP) codon 129 genotype and the biochemical characteristics of the disease-associated form of PrP (PrP(Sc)) ..
- Identification of novel proteinase K-resistant C-terminal fragments of PrP in Creutzfeldt-Jakob diseaseWen Quan Zou
Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 278:40429-36. 2003..disorders including Creutzfeldt-Jakob disease (CJD) in humans, is the conversion of the normal or cellular prion protein (PrPC) into the abnormal or scrapie isoform (PrPSc)...
- Expression of mutant or cytosolic PrP in transgenic mice and cells is not associated with endoplasmic reticulum stress or proteasome dysfunctionElena Quaglio
Dulbecco Telethon Institute, Milan, Italy
PLoS ONE 6:e19339. 2011The cellular pathways activated by mutant prion protein (PrP) in genetic prion diseases, ultimately leading to neuronal dysfunction and degeneration, are not known...
- Spontaneous generation of prion infectivity in fatal familial insomnia knockin miceWalker S Jackson
Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, MA 02142, USA
Neuron 63:438-50. 2009A 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...
- Cytosolic PrP induces apoptosis of cell by disrupting microtubule assemblyXiao Li Li
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Ying Xin Rd 100, Beijing, 100052, People s Republic of China
J Mol Neurosci 43:316-25. 2011b>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...
- Prion protein interacts with BACE1 protein and differentially regulates its activity toward wild type and Swedish mutant amyloid precursor proteinHeledd H Griffiths
Institute of Molecular and Cellular Biology, Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, United Kingdom
J Biol Chem 286:33489-500. 2011..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 ..
- Heat shock protein 104 inhibited the fibrillization of prion peptide 106-126 and disassembled prion peptide 106-126 fibrils in vitroYing hui Liu
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Ying Xin Rd 100, Beijing 100052, People s Republic of China
Int J Biochem Cell Biol 43:768-74. 2011..Prion peptide of aa 106-126 (PrP106-126) exhibits many PrP(Sc)-like biochemical features, forming amyloid-like fibrils in vitro...
- Alzheimer's disease brain-derived amyloid-β-mediated inhibition of LTP in vivo is prevented by immunotargeting cellular prion proteinAndrew E Barry
Department of Pharmacology and Therapeutics and Trinity College Institute of Neuroscience, Trinity College Dublin, Dublin 2, Ireland
J Neurosci 31:7259-63. 2011Synthetic amyloid-β protein (Aβ) 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 Aβ in vitro is controversial...
- Clinical features of rapidly progressive Alzheimer's diseaseChristian Schmidt
Department of Neurology, Hospital of the Georg August University Goettingen, Goettingen, Germany
Dement Geriatr Cogn Disord 29:371-8. 2010..To characterize clinical features, CSF biomarkers and genetic polymorphisms of patients suffering from a rapidly progressing subtype of Alzheimer's dementia (rpAD)...
- A novel protective prion protein variant that colocalizes with kuru exposureSimon Mead
Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, United Kingdom
N Engl J Med 361:2056-65. 2009b>Kuru is a devastating epidemic prion disease that affected a highly restricted geographic area of the Papua New Guinea highlands; at its peak, it predominantly affected adult women and children of both sexes...
- PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion UnitJon A Beck
MRC Prion Unit, Department of Neurodegenerative Disease, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK
Hum Mutat 31:E1551-63. 2010Mutation of the human prion protein gene (PRNP) open reading frame (ORF) accounts for almost all reported familial concurrence of prion disease...
- Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristicsIgnazio Cali
Department of Pathology, Case Western Reserve University, 2085 Adelbert Road, Cleveland, OH 44106, USA
Brain 132:2643-58. 2009..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)) ..
- Assessment of Alzheimer's disease case-control associations using family-based methodsBrit Maren M Schjeide
MassGeneral Institute for Neurodegenerative Disease MIND, Department of Neurology, Massachusetts General Hospital, Charlestown, MA 02129, USA
Neurogenetics 10:19-25. 2009..Further fine-mapping and functional analyses are warranted to elucidate the potential biochemical mechanisms and epidemiological relevance of these genes...
- Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfoldingMarc W van der Kamp
Department of Bioengineering, University of Washington, Seattle, WA 98195 5013, USA
J Mol Biol 404:732-48. 2010Transmissible spongiform encephalopathies, or prion diseases, are caused by misfolding and aggregation of the prion protein PrP...
- The prion protein has RNA binding and chaperoning properties characteristic of nucleocapsid protein NCP7 of HIV-1C Gabus
LaboRetro, Unité de Virologie Humaine INSERM Ecole Normale Superieure de Lyon ENS 412, ENS de Lyon, 46 allee d Italie, Lyon 69364, France
J Biol Chem 276:19301-9. 2001..are fatal neurodegenerative diseases associated with the accumulation of a protease-resistant form of the prion protein (PrP). Although PrP is conserved in vertebrates, its function remains to be identified...
- Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infectionMasaki Hizume
Division of CJD Science and Technology, Tohoku University Graduate School of Medicine, Sendai 980 8575, Japan
J Biol Chem 284:3603-9. 2009b>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)...
- Methionine sulfoxides on prion protein Helix-3 switch on the alpha-fold destabilization required for conversionGiorgio Colombo
Isto di Chimica del Riconoscimento Molecolare, Consiglio Nazionale delle Ricerche, Milano, Italy
PLoS ONE 4:e4296. 2009The conversion of the cellular prion protein (PrP(C)) into the infectious form (PrP(Sc)) is the key event in prion induced neurodegenerations...
- A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNPWenbin Yang
Department of Neurology, University of Chicago, Illinois 60637, USA
J Neurosci 29:10072-80. 2009..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...
- Prion protein gene M129 allele is a risk factor for Alzheimer's diseaseM Gacia
Department of Neurodegenerative Disorders, Medical Research Center, Polish Academy of Sciences, Warszawa, Poland
J Neural Transm 113:1747-51. 2006b>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)...
- Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob diseaseJolanta Bratosiewicz-Wasik
Department of Virology, Medical University of Silesia, 41 200 Sosnowiec, Narcyzow 1, Poland, and Department of Pathology and Laboratory Medicine, The Ottawa Hospital, Canada
Neurosci Lett 411:163-7. 2007The 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)...
- Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathwayTania Massignan
Dulbecco Telethon Institute DTI c o Istituto di Ricerche Farmacologiche Mario Negri, Milan, Italy
Mol Cell Proteomics 9:611-22. 2010The 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...
- Truncated forms of the human prion protein in normal brain and in prion diseasesS G Chen
Division of Neuropathology, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 270:19173-80. 1995The cellular form of the prion protein (PrPc) is a glycoprotein anchored to the cell membrane by a glycosylphosphatidylinositol moiety...
- Molecular architecture of human prion protein amyloid: a parallel, in-register beta-structureNathan J Cobb
Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, OH 44106, USA
Proc Natl Acad Sci U S A 104:18946-51. 2007..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)...
- Design of anti- and pro-aggregation variants to assess the effects of methionine oxidation in human prion proteinChristina Wolschner
Max Planck Institut fur Biochemie, Am Klopferspitz 18, D 82152 Martinsried, Germany
Proc Natl Acad Sci U S A 106:7756-61. 2009Prion 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...
- Total prion protein levels in the cerebrospinal fluid are reduced in patients with various neurological disordersFelix Meyne
National TSE Reference Center at Department of Neurology, Georg August University, Gottingen, Germany
J Alzheimers Dis 17:863-73. 2009We 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 ..
- Human prion protein mutants with deleted and inserted octarepeats undergo different pathways to trigger cell apoptosisKun Xu
Department of Microbiology, School of Medicine, Xi an Jiao Tong University, Xi an, 710061, People s Republic of China
J Mol Neurosci 43:225-34. 2011Octarepeats region sequence is one of the most important characteristics of PrP topology...
- Prion-like aggregates: infectious agents in human diseaseGunilla T Westermark
Department of Medical Cell Biology and Department of Genetics and Pathology, Uppsala University, Uppsala, Sweden
Trends Mol Med 16:501-7. 2010..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 ..
- Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cellsXin Wang
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Beijing, People s Republic of China
PLoS ONE 6:e14602. 2011Genetic prion diseases are linked to point and inserted mutations in the prion protein (PrP) gene that are presumed to favor conversion of the cellular isoform of PrP (PrP(C)) to the pathogenic one (PrP(Sc))...
- D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob diseaseBrian S Appleby
Division of Geriatric Psychiatry and Neuropsychiatry, Johns Hopkins University School of Medicine, Baltimore, MD, USA
Dement Geriatr Cogn Disord 30:424-31. 2010..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...
- A prion-linked psychiatric disorderH B Samaia
Nature 390:241. 1997
- Prion proteins with insertion mutations have altered N-terminal conformation and increased ligand binding activity and are more susceptible to oxidative attackShaoman Yin
Department of Pathology, School of Medicine, Case Western Reserve University, Cleveland, Ohio 44120, USA
J Biol Chem 281:10698-705. 2006We compared the biochemical properties of a wild type recombinant normal human cellular prion protein, rPrP(c), with a recombinant mutant human prion protein that has three additional octapeptide repeats, rPrP(8OR)...
- Co-occurrence of types 1 and 2 PrP(res) in sporadic Creutzfeldt-Jakob disease MM1Atsushi Kobayashi
Division of Neurological Science, Center for Prion Research, Tohoku University Graduate School of Medicine, Sendai, Japan
Am J Pathol 178:1309-15. 2011The genotype (M/M, M/V, or V/V) at polymorphic codon 129 of the human prion protein (PrP) gene and the type (1 or 2) of protease-resistant PrP (PrP(res)) in the brain are major determinants of the clinicopathological phenotypes of ..
- A novel insertional mutation in the prion protein gene: clinical and bio-molecular findingsC Mauro
Department of Neurological Sciences, First Division of Neurology, Second University of Naples, Via Pansini 5, 80131 Naples, Italy
J Neurol Neurosurg Psychiatry 79:1395-8. 2008..marked bi-parietal cerebral atrophy, was found to carry a novel seven extra-repeat insertional mutation in the prion protein gene (PRNP)...
- Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's diseaseA Poleggi
Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita, Rome, Italy
Eur J Neurol 15:173-8. 2008Codon 129 polymorphism of the prion protein gene represents a major genetic risk factor for Creutzfeldt-Jakob disease (CJD)...
- Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor geneP Brown
Laboratory of CNS Studies, NINDS, NIH, Bethesda, MD 20892
Neurology 42:422-7. 1992..family of English origin with an unusually early onset and long-duration form of Creutzfeldt-Jakob disease (CJD) had a heterozygous insert mutation in the region of repeating octapeptide coding sequences between codons 51 and ..
- Survival in Alzheimer's disease is shorter in women carrying heterozygosity at codon 129 of the PRNP gene and no APOE epsilon 4 alleleClaudia Giannattasio
Department of Cell Biology and Neurosciences, Istituto Superiore di Sanita, Rome, Italy
Dement Geriatr Cogn Disord 25:354-8. 2008We 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...
- Diverse effects on the native β-sheet of the human prion protein due to disease-associated mutationsWei Chen
Department of Bioengineering, University of Washington, Seattle, Washington 98195 5013, United States
Biochemistry 49:9874-81. 2010..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))...
- Signal transduction through prion proteinS Mouillet-Richard
Différenciation Cellulaire, CNRS Institut Pasteur, 75724 Paris Cedex 15, France
Science 289:1925-8. 2000The cellular prion protein PrPc is a glycosylphosphatidylinositol-anchored cell-surface protein whose biological function is unclear...
- The expression and potential function of cellular prion protein in human lymphocytesR Li
Institute of Pathology, Division of Neuropathology, Case Western Reserve University School of Medicine, 10900 Euclid Avenue, Cleveland, Ohio 44106 4943, USA
Cell Immunol 207:49-58. 2001We examined expression of the normal cellular prion protein (PrP(C)) in human peripheral blood mononuclear cells (PBMC) and in transfected neuroblastoma cells with a panel of six monoclonal antibodies (Mabs)...
- Beta-sheet core of human prion protein amyloid fibrils as determined by hydrogen/deuterium exchangeXiaojun Lu
Department of Physiology and Biophysics, Case Western Reserve University, Cleveland, OH 44106, USA
Proc Natl Acad Sci U S A 104:1510-5. 2007Propagation of transmissible spongiform encephalopathies is associated with the conversion of normal prion protein, PrP(C), into a misfolded, oligomeric form, PrP(Sc)...
- Cytosolic prion protein induces apoptosis in human neuronal cell SH-SY5Y via mitochondrial disruption pathwayXin Wang
State Key Laboratory for Infectious Disease Prevention and Control, National Institute for Viral Disease Control and Prevention, Chinese Center for Disease Control and Prevention, Ying Xin Rd 100, Beijing 100052, China
BMB Rep 42:444-9. 2009..Reverse-transfected cytosolic prion protein (PrP) and PrP expressed in the cytosol have been shown to be neurotoxic...
- The effect of disease-associated mutations on the folding pathway of human prion proteinAdrian C Apetri
Department of Physiology and Biophysics and Department of Chemistry, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 279:18008-14. 2004Propagation of transmissible spongiform encephalopathies is believed to involve the conversion of cellular prion protein, PrP(C), into a misfolded oligomeric form, PrP(Sc)...
- Alpha- and beta- cleavages of the amino-terminus of the cellular prion proteinAlain Mangé
Institut de Genetique Humaine, CNRS U P R 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France
Biol Cell 96:125-32. 2004It is commonly assumed that the physiological isoform of prion protein, PrP(C), is cleaved during its normal processing between residues 111/112, whereas the pathogenic isoform, PrP(Sc), is cleaved at an alternate site in the octapeptide ..
- Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitutionYusei Shiga
Department of Neurology, Tohoku University Graduate School of Medicine, 1 1 Seiryo machi, Aoba ku, Sendai 980 8574, Japan
J Neurol 254:1509-17. 2007To describe the clinical features of Creutzfeldt-Jakob disease with a substitution of arginine for methionine (M232R substitution) at codon 232 (CJD232) of the prion protein gene (PRNP).
- NMR structures of three single-residue variants of the human prion proteinL Calzolai
Institut fur Molekularbiologie und Biophysik, Eidgenossische Technische Hochschule, Honggerberg, CH 8093 Zurich, Switzerland
Proc Natl Acad Sci U S A 97:8340-5. 2000The NMR structures of three single-amino acid variants of the C-terminal domain of the human prion protein, hPrP(121-230), are presented...
- Sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1S Mead
MRC Prion Unit and Department of Neurogenetics, Imperial College, St Mary s Hospital, London, United Kingdom
Am J Hum Genet 69:1225-35. 2001..The etiology of classical (sporadic) CJD, which has a worldwide incidence, remains obscure...
- The C-terminal globular domain of the prion protein is necessary and sufficient for import into the endoplasmic reticulumJohanna Heske
Department of Cellular Biochemistry, Max Planck Institut fur Biochemie, Am Klopferspitz 18, D 82152 Martinsried, Germany
J Biol Chem 279:5435-43. 2004The mammalian prion protein (PrP) is composed of an unstructured flexible N-terminal region and a C-terminal globular domain...
- Recombinant prion protein does not possess SOD-1 activitySamantha Jones
MRC Prion Unit, Department of Neurodegenerative Diseases, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
Biochem J 392:309-12. 2005A considerable body of evidence now shows that PrP (prion protein) binds metal ions with high affinity and it has been claimed that the binding of copper (II) ions to PrP confers SOD (superoxide dismutase) activity...
- Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotypeH S Lee
Clinical Neurogenetics Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA
J Infect Dis 183:192-196. 2001b>Kuru reached epidemic proportions by the mid-twentieth century among the Fore people of New Guinea and disappeared after the abolition of cannibalistic rituals...
- PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean populationB H Jeong
Ilsong Institute of Life Science, Hallym University, Dongan Gu, Anyang, Kyounggi Do, South Korea
Eur J Neurol 15:846-50. 2008Human prion protein gene (PRNP) is considered a critical and fundamental gene in determining the incidence of human prion diseases...
- Association between deposition of beta-amyloid and pathological prion protein in sporadic Creutzfeldt-Jakob diseaseLaura Debatin
Institute of Neuropathology, University Hospital Zurich, Zurich, Switzerland
Neurodegener Dis 5:347-54. 2008..an association between the deposition of the proteolytically processed form 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.
- Codon 129 polymorphism of the human prion protein influences the kinetics of amyloid formationPatrick A Lewis
MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
J Gen Virol 87:2443-9. 2006The 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...
- Conditions of endoplasmic reticulum stress favor the accumulation of cytosolic prion proteinAndrea Orsi
Universita Vita Salute San Raffaele, DiBiT Istituto Scientifico San Raffaele, Via Olgettina 58, 20132 Milano, Italy
J Biol Chem 281:30431-8. 2006After 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 ..
- PrP glycoforms are associated in a strain-specific ratio in native PrPScAzadeh Khalili-Shirazi
MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
J Gen Virol 86:2635-44. 2005Prion diseases involve conversion of host-encoded cellular prion protein (PrPC) to a disease-related isoform (PrPSc)...
- Cellular phenotyping of secretory and nuclear prion proteins associated with inherited prion diseasesHolger Lorenz
Institut für Neuropathologie, Ludwig Maximilians Universitat Munchen, D 81377 Munchen, Germany
J Biol Chem 277:8508-16. 2002The pathogenic mechanisms leading from mutations in the prion protein (PrP) gene to infectious disease are not understood...
- Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1Shayne A Bellingham
Department of Biochemistry and Molecular Biology, The University of Melbourne, Victoria, Australia
J Biol Chem 284:1291-301. 2009Prion diseases are associated with the conformational conversion of the host-encoded cellular prion protein into an abnormal pathogenic isoform...
- Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgeneCarsten Korth
Institute for Neurodegenerative Diseases and Department of Neurology, University of California, San Francisco, CA 94143, USA
Proc Natl Acad Sci U S A 100:4784-9. 2003Transgenic (Tg) mouse lines that express chimeric mouse-human prion protein (PrP), designated MHu2M, are susceptible to prions from patients with sporadic Creutzfeldt-Jakob disease (sCJD)...
- PRNP Val129 homozygosity increases risk for early-onset Alzheimer's diseaseBart Dermaut
Department of Molecular Genetics, Flanders Interuniversity Institute of Biotechnology VIB8, University of Antwerp, Antwerpen, Belgium
Ann Neurol 53:409-12. 2003..2; 95% CI, 1.4-7.1; p < 0.01). In patients with a positive family history, these risks increased to 2.6 (95% CI, 1.3-5.3; p < 0.01) and 3.5 (95% CI, 1.3-9.3; p = 0.01), respectively...
- Aggresome formation by mutant prion proteins: the unfolding role of proteasomes in familial prion disordersRavi Shankar Mishra
The Institute of Pathology, Case Western Reserve University, 2085, Adelbert Road, Cleveland, Ohio 44106, USA
J Alzheimers Dis 5:15-23. 2003Although familial prion disorders are a direct consequence of mutations in the prion protein gene, the underlying mechanisms leading to neurodegeneration remain unclear...
- The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPCLaszlo L P Hosszu
Medical Research Council Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
J Biol Chem 279:28515-21. 2004There are two common forms of prion protein (PrP) in humans, with either methionine or valine at position 129...
- Polymorphisms of the prion protein gene (PRNP) in a Korean populationByung Hoon Jeong
Ilsong Institute of Life Science, Hallym University, Ilsong Building, 1605 4, Gwanyang dong, Dongan Gu, 431 060, Anyang, Kyounggi Do, South Korea
J Hum Genet 49:319-24. 2004Human prion protein gene (PRNP) has been considered to be involved in the susceptibility of humans to prion diseases...
- Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genesEwa Golanska
Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland
J Alzheimers Dis 17:359-68. 2009..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...
- Stress-inducible protein 1 is a cell surface ligand for cellular prion that triggers neuroprotectionSilvio M Zanata
Ludwig Institute for Cancer Research, Sao Paulo Branch, Rua Prof Antônio Prudente 109 4A, São Paulo 01509010, Brasil
EMBO J 21:3307-16. 2002Prions are composed of an isoform of a normal sialoglycoprotein called PrP(c), whose physiological role has been under investigation, with focus on the screening for ligands...
- Folding kinetics of the human prion protein probed by temperature jumpTanya Hart
Medical Research Council Prion Unit, Institute of Neurology, Queen Square, London WC1N 3BG, United Kingdom
Proc Natl Acad Sci U S A 106:5651-6. 2009Temperature-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 ..
- The population distribution of the Met allele at the PRNP129 polymorphism (a high risk factor for Creutzfeldt-Jakob disease) in various regions of France and in West EuropeGérard Lucotte
Centre de Neurogénétique Moléculaire, 44 rue Monge, Paris 75005, France
Infect Genet Evol 5:141-4. 2005The present study has been conducted to ascertain the level of allelic variation at codon 129 of the prion protein gene in France...
- PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob DiseaseJames E McCormack
Neuropathogenesis Unit, Institute for Animal Health, West Mains Road, Edinburgh EH9 3JF, UK
Gene 288:139-46. 2002The Prion protein (PrP) plays a central role in Creutzfeldt-Jakob Disease (CJD) and other transmissible spongiform encephalopathies (TSEs)...
- Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association studySimon Mead
Medical Research Council Prion Unit and Department of Neurodegenerative Disease, Institute of Neurology, Queen Square, London, UK
Lancet Neurol 8:57-66. 2009Human 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 ..
- Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysisRoberto Del Bo
Dino Ferrari Centre, Department of Neurological Sciences, University of Milan and Fondazione IRCCS Ospedale Maggiore Policlinico, Mangiagalli e Regina Elena, Padiglione Ponti, Milano, Italy
Neurobiol Aging 27:770.e1-770.e5. 2006The methionine/valine (M/V) polymorphism at codon 129 within the prion protein gene (PRNP) represents a known risk factor for Creutzfeldt-Jakob disease (CJD)...
- All-trans retinoic acid down-regulates prion protein expression independently of granulocyte maturationC Rybner
INSERM U 496, Institut Universitaire d Hématologie IUH, Hopital Saint Louis, Paris, France
Leukemia 16:940-8. 2002The cellular prion protein (PrPc) is a sialoglycoprotein involved in the pathogenesis of prion diseases. It has been identified at the plasma membrane of several cell types...
- The chaperone protein BiP binds to a mutant prion protein and mediates its degradation by the proteasomeT Jin
Division of Neuropathology, Institute of Pathology, Case Western Reserve University, Cleveland, Ohio 44106, USA
J Biol Chem 275:38699-704. 2000Familial prion diseases are thought to result from a change in structure of the mutant prion protein (PrP), which takes a pathogenic conformation...
- Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob diseaseR Gabizon
Department of Neurology, Hadassah University Hospital, Jerusalem, Israel
Philos Trans R Soc Lond B Biol Sci 343:385-90. 1994Various mutations in the prion protein (PrP) gene are associated with Creutzfeldt-Jakob disease (CJD), a transmissible fatal neurodegenerative disorder...
- Genetic and infectious prion diseasesS B Prusiner
Department of Neurology, University of California, San Francisco
Arch Neurol 50:1129-53. 1993Enriching fractions from Syrian hamster (SHa) brain for scrapie prion infectivity led to the discovery of the prion protein (PrP)...
- Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphismL G Goldfarb
Laboratory of Central Nervous System Studies, National Institute of Neurological Diseases and Stroke, National Institutes of Health, Bethesda, Maryland 20892
Science 258:806-8. 1992..clinically and pathologically distinct diseases, are linked to the same mutation at codon 178 (Asn178) of the prion protein gene...
- Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob diseaseM S Palmer
Department of Biochemistry and Molecular Genetics, St Mary s Hospital Medical School, London, UK
Nature 352:340-2. 1991..Despite their experimental transmissibility, missense and insertional mutations in the prion protein gene are associated with both GSS and familial CJD, demonstrating that the human familial cases are autosomal ..
- Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotypeK Peoc'h
Centre de Recherche C Bernard, IFR 6, Service de Biochimie et Biologie Moléculaire Pr J M Launay, Hopital Lariboisiere, Paris, France
Hum Mutat 15:482. 2000Inherited prion diseases are characterized by mutations in the PRNP gene encoding the prion protein (PrP)...
- Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein geneR Medori
Division of Neuropathology, Case Western Reserve University, Cleveland, OH 44106
N Engl J Med 326:444-9. 1992..Five other family members who died of this disease, which we termed "fatal familial insomnia," had broader neuropathologic changes suggesting that fatal familial insomnia could be a prion disease...
- Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneityP Piccardo
Indiana University School of Medicine, Indianapolis 46202 5120, USA
J Neuropathol Exp Neurol 57:979-88. 1998..disease (GSS), a cerebello-pyramidal syndrome associated with dementia and caused by mutations in the prion protein gene (PRNP), is phenotypically heterogeneous...
- Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation)P Barbanti
Department of Neurological Sciences, Universita di Roma La Sapienza, Italy
Neurology 47:734-41. 1996..syndrome (GSS) associated with the Pro to Leu point mutation at codon 102 of the prion protein gene (PRNP)...
- Complete genomic sequence and analysis of the prion protein gene region from three mammalian speciesI Y Lee
Department of Molecular Biotechnology, University of Washington, Seattle, Washington 98195 7730 USA
Genome Res 8:1022-37. 1998The prion protein (PrP), first identified in scrapie-infected rodents, is encoded by a single exon of a single-copy chromosomal gene. In addition to the protein-coding exon, PrP genes in mammals contain one or two 5'-noncoding exons...
- Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysisJ Collinge
Division of Psychiatry, Clinical Research Centre, Harrow, Middlesex, UK
Lancet 2:15-7. 1989..samples from 12 unrelated individuals with various familial dementias and ataxias for mutation in part of the prion protein (PrP) gene, an abnormality that occurs in individuals with the spongiform encephalopathies, Gerstmann-Strä..
- A new point mutation of the prion protein gene in Creutzfeldt-Jakob diseaseM Pocchiari
Laboratory of Virology, Istituto Superiore di Sanita, Rome, Italy
Ann Neurol 34:802-7. 1993Complete sequencing of the prion protein open reading frame of a 68-year-old woman affected by a familial form of Creutzfeldt-Jakob disease (CJD) revealed a new mutation at codon 210 resulting in the substitution of isoleucine for valine...
- Molecular basis of a yeast prion species barrierA Santoso
Department of Cellular and Molecular, University of California, San Francisco 94143 0450, USA
Cell 100:277-88. 2000....
- Prion properties of the Sup35 protein of yeast Pichia methanolicaV V Kushnirov
Institute of Experimental Cardiology, Cardiology Research Center, 3 rd Cherepkovskaya Street, 15a, Moscow 121552, Russia
EMBO J 19:324-31. 2000..No transfer of prion state between the two Sup35p variants was observed, which reveals a 'species barrier' for the [PSI(+)] prions. The data obtained show that prion properties are conserved within at least a part of this protein family...
- Strains of [PSI(+)] are distinguished by their efficiencies of prion-mediated conformational conversionS M Uptain
Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, Chicago, IL 60637, USA
EMBO J 20:6236-45. 2001..Thus, [PSI(+)] variants result from differences in the efficiency of prion-mediated conversion, and the maintenance of [PSI(+)] variants involves more than nucleated conformational conversion (templating) to NM alone...
- Creating a protein-based element of inheritanceL Li
Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, 5841 South Maryland Avenue MC1028, Chicago, IL 60637, USA
Science 287:661-4. 2000....
- [URE3] and [PSI] are prions of yeast and evidence for new fungal prionsD C Masison
National Institutes of Health, Bethesda, MD 20892 0830, USA
Curr Issues Mol Biol 2:51-9. 2000..Recently, two new potential prions have been described, one in yeast and the other in the filamentous fungus, Podospora...
- [PSI+], SUP35, and chaperonesT R Serio
Department of Molecular Genetics and Cell Biology, University of Chicago, Chicago, Illinois 60637, USA
Adv Protein Chem 57:335-66. 2001..Such processes may be widely used in biology. Mechanistic studies of [PSI+] and [URE3] replication are sure to lay a foundation of knowledge for understanding a host of nonconventional genetic elements that currently remain elusive...
- The protein-only theory and the yeast Saccharomyces cerevisiae: the prions and the propagonsE Fernandez Bellot
, Bordeaux, France
Cell Mol Life Sci 58:1857-78. 2001..model that links auto-aggregation in amyloid formation and inactivation of the cellular function of the yeast 'prion protein' Sup35p. The other prion model, [URE3], appears to be similar in some genetic and biochemical properties...
- Propagation of the yeast prion-like [psi+] determinant is mediated by oligomerization of the SUP35-encoded polypeptide chain release factorS V Paushkin
Institute of Experimental Cardiology, Cardiology Research Center, Moscow, Russia
EMBO J 15:3127-34. 1996..We propose that Hsp104p plays a role in establishing stable [psi+] inheritance by splitting up Sup35p aggregates and thus ensuring equidistribution of the prion-like Sup35p isoform to daughter cells at cell divisions...
- Cell biology. Sowing the protein seeds of prion propagationM F Tuite
Department of Biosciences, University of Kent, Canterbury, UK
Science 289:556-7. 2000..However, as Tuite discusses in his Perspective, the Sup35p and Ure2p proteins of yeast that exist in both normal and infectious forms are providing evidence that the "protein-only" hypothesis may be right (Sparrer et al.)...
- [Review of Creutzfeldt-Jakob disease and other prion diseases]S Zivkovic
Department of Neurology, University of Pittsburgh School of Medicine, Pennsylvania, USA
Rev Neurol 31:1171-9. 2000INTRODUCTION: Creutzfeldt-Jakob disease (CJD) is a rapidly progressive dementia syndrome which is probably caused by prions. The annual incidence of this disease is 1/1,000,000...
- Characterization of de novo generation of infectious prionsJoaquin Castilla; Fiscal Year: 2009..appears to be composed uniquely of a protein which is a conformationally-modified version (PrPSc) of a natural prion protein (PrPC)...
- Investigation of the Establishment of the Prion StateIrina Derkatch; Fiscal Year: 2007Prions cause tremendous concern as the causative agents of lethal neurodegenerative disorders such as CJD and BSE...
- Investigation of the Establishment of the Prion StateIrina L Derkatch; Fiscal Year: 2010Prions cause tremendous concern as the causative agents of lethal neurodegenerative disorders such as CJD and BSE...
- MURINE TRANSGENIC MODELS OF PRION DISEASESDavid A Harris; Fiscal Year: 2010..A major focus of our work has been on Tg mice that express a PrP molecule with a nine-octapeptide insertional mutation (PG14) associated with a familial form of Creutzfeldt- Jakob ..
- MURINE TRANSGENIC MODELS OF PRION DISEASESDavid A Harris; Fiscal Year: 2009..A major focus of our work has been on Tg mice that express a PrP molecule with a nine-octapeptide insertional mutation (PG14) associated with a familial form of Creutzfeldt- Jakob ..
- MURINE TRANSGENIC MODELS OF PRION DISEASESDavid Harris; Fiscal Year: 2007..A major focus of our work has been on Tg mice that express a PrP molecule with a nine-octapeptide insertional mutation (PG14) associated with a familial form of Creutzfeldt- Jakob ..
- Emergence of drug resistance in prion populationsCharles Weissmann; Fiscal Year: 2010..they consist mainly, if not entirely of multimers of PrPSc, a conformational isomer of the host- encoded protein PrPC. Prions occur in the form of diverse strains, which differ in various phenotypic properties but whose PrPSc has the ..
- An improved expression vector to create transgenic mice for prion research.GULTEKIN TAMGUNEY; Fiscal Year: 2007..These disorders are characterized by the conversion of the host-encoded cellular prion protein (PrPc) into an abnormally folded and infectious isoform (PrPSc) that accumulates in the brain and causes ..
- Preventing Human Prion Diseases - Inactivation of PrionsSTANLEY PRUSINER; Fiscal Year: 2007..Effective protocols for inactivating prions will protect the general public as well as laboratory scientists who are investigating prions. Rarely does a research study have such immediate and important implications. ..
- Preventing Human Prion Diseases - Inactivation of PrionsSTANLEY PRUSINER; Fiscal Year: 2009..Effective protocols for inactivating prions will protect the general public as well as laboratory scientists who are investigating prions. Rarely does a research study have such immediate and important implications. ..
- Preventing Human Prion Diseases - Inactivation of PrionsStanley B Prusiner; Fiscal Year: 2010..Effective protocols for inactivating prions will protect the general public as well as laboratory scientists who are investigating prions. Rarely does a research study have such immediate and important implications. ..
- Cyclic Amplification of Prion Protein MisfoldingClaudio Soto; Fiscal Year: 2010This application is a competing renewal of a very successful project entitled "Cyclic Amplification of Prion Protein Misfolding"...
- TRANSGENETIC STUDIES OF PRION DISEASE IN CERVIDSGlenn Telling; Fiscal Year: 2002..The mechanism of prion replication is unique, the central event being the coercion of host encoded prion protein (PrPc) by the disease-associated isoform (PrPSc) to adopt to the infectivity-associated conformation...
- Investigation of the yeast prion factor [PSI+]Susan W Liebman; Fiscal Year: 2010....
- Mechanisms of prion strain selectionJason C Bartz; Fiscal Year: 2010..abstract_text> ..
- Mechanisms of prion strain selectionJason Bartz; Fiscal Year: 2007....