Property Summary

NCBI Gene PubMed Count 662
PubMed Score 5471.92
PubTator Score 5232.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count Z-score Confidence
Creutzfeldt-Jakob disease 19 0.0 2.0
Disease Target Count Z-score Confidence
Prion disease 10 0.0 5.0
Wilson disease 16 0.0 5.0
Disease Target Count Z-score Confidence
Amyloidosis 68 3.703 1.9

Expression

  Differential Expression (35)

Disease log2 FC p
Alzheimer's disease -1.200 1.9e-02
Rheumatoid Arthritis -1.200 4.0e-02
pancreatic cancer -1.400 1.5e-03
Multiple myeloma 1.740 2.3e-03
malignant mesothelioma -2.500 2.0e-08
glioblastoma -1.500 3.8e-02
oligodendroglioma -1.100 7.6e-10
osteosarcoma 2.954 2.1e-06
chronic lymphosyte leukemia -1.400 3.2e-05
sonic hedgehog group medulloblastoma -2.100 2.2e-05
cystic fibrosis 1.017 3.4e-04
atypical teratoid / rhabdoid tumor -1.100 3.0e-03
medulloblastoma, large-cell -1.800 2.1e-03
primitive neuroectodermal tumor -1.300 1.3e-03
Duchenne muscular dystrophy 1.276 2.1e-06
autosomal dominant Emery-Dreifuss muscul... 1.538 1.9e-03
fascioscapulohumeral muscular dystrophy 1.079 1.6e-03
juvenile dermatomyositis 1.690 1.8e-12
Amyotrophic Lateral Sclerosis 1.715 1.3e-07
acute quadriplegic myopathy 1.791 5.7e-06
intraductal papillary-mucinous adenoma (... -1.500 2.9e-02
intraductal papillary-mucinous carcinoma... -2.200 5.3e-03
lung cancer -3.600 6.6e-07
colon cancer -2.100 1.7e-04
active Crohn's disease 1.438 2.0e-02
ulcerative colitis 2.100 2.3e-06
adult high grade glioma -1.300 3.8e-02
pancreatic carcinoma -1.400 1.5e-03
invasive ductal carcinoma -1.500 4.1e-03
Breast cancer -2.200 3.0e-09
breast carcinoma -1.400 1.0e-33
Pick disease -1.500 9.6e-05
ovarian cancer -2.300 1.1e-05
Down syndrome 1.100 3.3e-02
dermatomyositis 1.700 1.3e-03

Synonym

Accession F7VJQ1
Symbols CJD
GSS
PrP
ASCR
KURU
PRIP
PrPc
CD230
AltPrP
p27-30
PrP27-30
PrP33-35C

Gene

  Ortholog (1)

Species Source Disease
Chimp OMA EggNOG Inparanoid

Gene RIF (608)

PMID Text
26946358 The results suggest a role of PrP(C) in proteostasis, dysfunctions of which may be involved in the pathogenesis of neurodegenerative diseases such as TSE and Alzheimer's Disease.
26778001 Overall, these results suggest that PrP(c) contribute the breast cancer invasion and migration via MMP-9.
26710111 PrP(C) is highly enriched on exosomes from SH-SY5Y cells and that exosomes bind amyloid beta via PrP(C).
26683373 these results show that multiple gene irregularity in BxPC-3 cells is responsible for the formation of pro-PrP, and binding of pro-PrP to filamin A contributes to enhanced tumor cell motility.
26667279 Genetic coupling between Prnp and glutamate receptor 5 is responsible for synapse loss in Alzheimer's disease transgenic mouse model.
26528810 PrP-Abeta oligomers binding might be the underlying mechanism of the prion diseases and Alzheimer's disease. [review]
26368533 The decrease in FK-derived PrPSc levels was mediated, at least in part, by the phosphatidylinositol 3-kinase/MEK signalling pathway.
26323476 Effects such as the stabilization of the native alpha-fold, dictating the efficiency of the alpha-cleavage, attenuating the fibrillation propensity and yielding the most benign amyloids suggest that the charge design ensures PrPC functions.
26268531 PRNP codon 129 polymorphism determines incubation time for iatrogenic Creutzfeldt-Jakob disease.
26159734 We propose that PrP modulates beta1 integrin adhesion and migration of monocytes through RhoA-induced actin remodeling mediated by cofilin, and through the regulation of ERM-mediated membrane-cytoskeleton linkage.
26157118 Insights into Chronic Wasting Disease and Bovine Spongiform Encephalopathy Species Barriers by Use of Real-Time Conversion
26107283 Sodium dodecyl sulfate micelles stabilize the formation of the alpha-helical structure of the peptide backbone, which is well conserved also upon Cu(2+) binding, contrary to the random coil conformation mainly assumed by PrP 91-127 in water solutions.
26104335 Prion protein prevents heavy metals overloading of cells.
26061765 protective role of prion variant G127V and its interaction with the common, worldwide M129V PrP polymorphism; transgenic mice expressing both variant and wild-type human PrP are completely resistant to both kuru and classical Creutzfeldt-Jakob disease
26022925 PRNP polymorphisms at codons 129 and 219 affect the prion disease susceptibility depending on the prion strain; review aims to summarize recent advances in our knowledge about the influence of the PRNP polymorphisms on the prion disease susceptibility
25998112 Fatal familial insomnia is caused by a mutation at codon 178 paired with methionine at codon 129 on the mutated PRNP allele, resulting in profound thalamic degeneration.
25983001 High prion protein contributes to colon cancer cell carcinogenesis by increasing invasiveness and resistance against doxorubicin-induced apoptosis.
25978088 Data suggest that oligopeptide fragments of PRNP crystallize to form continuous beta-sheets that pack together with intercalating side chains at steric zipper interfaces; diverse conformations are observed in polymorphic variations of PRNP.
25922234 data demonstrate that zinc significantly changes the aggregation pathway and the conformation of wild-type PrP aggregates mainly via interaction with its octarepeat region
25853328 PrP-AChE interaction requires two mutually exclusive sub-sites in PrP N-terminal domain and an aromatic-rich region at the entrance of AChE active center gorge.
25643046 plasma soluble PrP(C) is a potential biomarker for sport-related concussion
25572400 Data indicate that familial prion protein (PrP) mutants are equally and efficiently phosphorylated by cyclin-dependent kinase 5 (Cdk5).
25522698 This study demonstrated that Familial Creutzfeldt-Jakob disease with the E200K mutation of PNRP protein.
25450391 Elucidated is the role of V210I and R208H mutations in the formation of PrPCJD. Mutant PrPCJD prevails over wild-type PrPCJD in the brain of Creutzfeldt-Jakob disease patients.
25435015 baicalein protected the cells against PrPinduced neuronal cell death by inhibiting the production of reactive oxygen species (ROS) and mitochondrial dysfunction
25281825 Findings directly link methionine oxidation to pathogenesis of prion protein (PrP) D178N-associated fatal familial insomnia (FFI).
25280631 protease-sensitive abnormal PrP aggregates derived from patients with sporadic Creutzfeldt-Jakob disease are taken up and degraded by immortalized human astrocytes similarly to abnormal PrP aggregates that are resistant to proteases
25279981 c.598G > A mutation in PRNP gene is associated with Creutzfeldt-Jakob disease.
25239885 Studies indicate that common steps in the downstream signaling pathway of cobalamin, epidermal growth factor, and normal prions underlines the close relationship between the three molecules in keeping myelin normal.
25220284 We describe a PRNP haplotype in a patient with early, severe dementia and late-onset minor insomnia, mainly presenting as the CJD phenotype
25027605 molecular dynamics simulations of dimeric forms suggest that the dominant-negative effect of the protective mutation (E219K) is due to the incompatible structures and dynamics of allelic variants during conversion process
24965601 suggest a protective role for cellular prion protein in Alzheimer's disease by downregulating tau expression, and they point to this protein as being crucial in the molecular events that lead to neurodegeneration in Alzheimer's disease
24958194 It is associated with Alzheimer's disease.
24945274 Data suggest that activity/structure of HET-S/prion/amyloid are very robust; only a few key mutations are able to corrupt structure/function; while some mutations strongly destabilize folding, many substitutions in fact increase stability of folding.
24857020 Prion-like propagation of tau aggregation underlie the stereotyped progression of neurodegenerative tauopathies.
24838726 We conclude that the V180I mutation in prion protein gene produces a late-developing and slow-developing, less severe form of Creutzfeldt-Jakob disease
24714645 The ubiquitin ligase gp78, known for its role in protein quality control, is critical for unglycosylated PrP ubiquitylation and degradation.
24706505 Overexpression of PrPc, combined with MGr1-Ag/37LRP, is associated with gastric cancer.
24620982 No association found between the PRNP polymorphism at codon 129 and Alzheimer's disease in a Brazilian population - meta-analysis
24606939 detailed structural and dynamic properties of huPrP
24519981 Larger assemblies of amyloid-beta or additional non-amyloid-beta components may play a role in binding of amyloid-beta42 to prion PrP(C) in Alzheimer's disease.
24498083 Data indicate the atomic-level model for the formation of oligomers and fibrils of the prion protein.
24493558 This is the first published report of in vitro fertilization with PRNP for genetic prion disease by fresh embryo transfer, with 27-month normal follow-up of healthy twin offspring.
24398683 The contribution of the glycosylphosphatidylinositol-anchor to the molecular mass and isoelectric point of PrP quasispecies under two-dimensional electrophoresis, is reported.
24360565 study revealed an association between PrPC charge isoform profiles in CSF and PRNP codon 129 genotype, PrPSc type and the type of prion disease
24338015 We have generated two strains of recombinant human prion protein amyloid fibrils that show dramatic differences in conformational stability and have characterized them by a number of biophysical methods.
24329154 PrP does not inhibit CaV2.1/beta currents formed with alpha2delta-1DeltaC, rather than alpha2delta-1. It is possible that PrP and alpha2delta-1 compete for GPI(glycosylphosphatidylinositol)-anchor intermediates or trafficking pathways.
24225951 WT PrP(C), in a DPP6-dependent manner, modulated Kv4.2 channel properties, causing an increase in peak amplitude
24224623 Abnormal forms of prion protein that were found in multiple peripheral tissues were associated with diarrhea, autonomic failure, and neuropathy.
24145555 PRNP interacts with BECN1 to recruit the PIK3C3 complex into lipid rafts and thus activates autophagy in response to Abeta42, defining a novel role of PRNP in the regulation of autophagy.
24121542 The results highlight the importance of methionine oxidation at surface exposed residues for PrP misfolding, supporting the hypothesis that increased oxidative stress could be one causative event for sporadic prion diseases.
24112521 findings show the PrP GPI-anchor signal peptide (SP) undergoes degradation via the proteasome; P238S point mutation partially protects the PrP GPI-anchor SP from degradation; data provide attempt to address the fate of a GPI-anchor SP and identify a role for the P238 mutation, suggesting PrP GPI-anchor SP could play a role in neurodegenerative prion diseases
24091711 Prnp variant alleles at codon 129 are not associated with cerebellum volume in patients with refractory mesial temporal lobe epilepsy related to hippocampal sclerosis
24086135 that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.
24047819 Reduced PrP(c) levels in CSF correlate with PrP mRNA expression in brain, which in turn reflects severity of degeneration in sporadic Creutzfeldt-Jakob disease.
23974118 Data suggest that the spectrum of conformers in prion isolates enables adaptation and evolution by selection of the progressively less stable and faster replicating subset.
23967259 IGF-1-induced enhancement of PRNP expression depends on the negative regulation of transcription factor FOXO3a
23959875 Data indicate that single codon differences in prion protein (PrP) in an otherwise normal genome can cause remarkably different neurodegenerative diseases and are sufficient to create distinct protein-based infectious elements.
23911565 Results indicate that the interaction between the complexes and the prion peptide included metal coordination and hydrophobic interaction mainly.
23907583 charged clusters and hydrophobic regions of the prion protein were involved in binding to beta-amyloid1-40 and 1-42.
23857619 Codon 129 polymorphism is not a risk factor for Alzheime disease in Brazilian patients.
23857314 Vitamin D 2 interacts with Human PrP(c) (90-231) and breaks PrP(c) oligomerization in vitro
23843953 these studies also provide circumstantial evidence that in human prion diseases, as in the animal prion diseases, a direct comparison and intraspecies correlation cannot be made between the levels of PrP(Sc) and infectivity.
23825952 Critical significance of the region between Helix 1 and 2 for efficient dominant-negative inhibition by conversion-incompetent prion protein.
23792955 Data indicate that all humanized prion protein knock-in mouse lines were susceptible to variant Creutzfeldt-Jakob disease (vCJD) infection, although the attack rate gradually decreased from genotypes 129M/M to 129M/V and to 129V/V.
23787697 Binding of bovine T194A PrP(C) by PrP(Sc)-specific antibodies: potential implications for immunotherapy of familial prion diseases.
23785217 To determine whether prion infectivity is found in heart tissue, we inoculated brain and heart tissue from two sCJD patients, as well as prion positive heart tissue from amyloid heart disease patients, into transgenic mice overexpressing human PrPSc.
23764834 This review focus is on the interaction between PrPc and zinc transport in the neuron, highlighting a novel aspect of prion biology. [review]
23638794 PrP(C) over-expression enhances cell proliferation and cell cycle re-entrance after serum stimulation
23637596 study shows that GPI-anchored prions converted into GPI-anchorless prions become extraordinarily stable, more resistant to enzyme digestion, and are poorly able to invade the nervous system
23627023 Flotillin-1 interacted with PrPc and promote the endocytosis of PrPc.
23625312 These data here provide direct evidences for the molecular interaction and endocytosis of PrP(C) with Flot-1 in the presence of copper ions.
23614720 This review analyzes the evidence for the infectious prion agent, mainly composed of PrPSc and transmitted by the autocatalytic conversion of the natively folded prion protein induced by the misfolded version of the protein (PrPSc) (seeding process).
23577068 a role for PrP(C) in regulating Abeta production
23565236 early age at death occurs in offspring of families carrying the E200K PRNP mutation
23467330 4 cases with atypical clinical and diagnostic findings and unknown mutations in PRNP
23449776 Spleen tissue from a PRNP heterozygous genotype individual can propagate the variant Creutzfeldt-Jakob disease agent.
23436635 The D202N prion mutation has been associated with Gerstmann-Straussler-Scheinker pathology and up to now was only reported post mortem. Our patient is the very first case diagnosed in vivo
23406923 This is a genetic association study of the PRNP codon 129 polymorphism among Polish centenarians (n = 150) comparing genotypic frequencies to those found for a sample of younger Poles aged 18 to 56 years.
23406905 Prion stop mutants that accumulate in amyloidogenic plaque-forming aggregates fold into a beta-helix.
23405858 The results of this study suggested that the PRNP 129VV polymorphism is not a direct migraine risk factor but is significantly associated with an earlier onset of the disease.
23399523 The methionine/valine polymorphism (rs1799990) in the PRNP gene contributes to susceptibility of Alzheimer's disease.
23392670 PrPc with a deletion of residues 105-125 in the central region, induces abnormal ionic currents in neurons.
23386614 Prion protein-mediated toxicity of amyloid-beta oligomers requires lipid rafts and the transmembrane LRP1
23324596 The interaction of ABETA oligomers with PrPc in Alzheimer disease is discussed in this review. [review]
23319218 Screening for mutations in the PRNP gene should be performed in all diagnosed cases of prion disease and in cases of familial occurrence of early onset dementia of unknown atiology.
23283514 These data provide strong evidence that octarepeats of PrP are critical for the interaction between PrP and Cav-1.
23276223 The results showed that the role of the hydrogen bonds in the stability of human prion protein is more important than the salt bridges.
23256626 In the conversion from PrPc to PrP(SC) major conformational changes occur in Helices 2 and 3, which is because of their sequence compositions are frustrated in the helical state.
23225390 This study demonistrated that describe the neuropathic features of 3 patients with the transthyretin Val30Met mutation.
23225009 Experimental inhibition of fibrillogenesis and neurotoxicity by amyloid-beta (Abeta) and other disease-related peptides/proteins by plant extracts and herbal compounds.
23225001 Prion protein aggregation and fibrillogenesis in vitro.
23209282 The data support a critical role of the polymorphic residue 129 of the human prion protein in aggregation and disease.
23175838 we showed that gene dosage of Prnp regulates amyloid beta-induced Fyn/tau alterations
23131565 This report is the first study demonstrating that HIF-1alpha-mediated SP1 expression regulates PrPc transcription, and upregulation of SP1 induced by HIF-1alpha plays a key role in protection from prion-mediated neurotoxicity.
23115236 The heat shock response is modulated by and interferes with toxic effects of scrapie prion protein and amyloid beta.
23090399 The crystal structure of the Fab fragment of an antiprion monoclonal antibody, POM1, in complex with human prion protein PrPc has been determined to 2.4 A resolution.
23022479 Methylene blue binding to the surface cleft inhibits the oligomerization and fibrillization of prion protein.
22987042 Reviewed a series of studies showing that ABETA oligomer binding to PrPc mediates deleterious effects on neurons. [review]
22978166 the formation of the disulfide bridge induces the alteration of the secondary structure and enhances the progresses of aggregation and fibrillization of PrP protein.
22972305 data characterize a novel molecular mechanism that links PrPc expression to the regulation of colorectal cancer metastasis
22967749 The findings are suggestive of an independent association of PrPc with cognitive functioning in humans.
22930754 The prion protein preference of sporadic Creutzfeldt-Jakob disease subtypes.
22918447 the apparent functional versatility of PrP (C) as a signaling molecule and may offer insight into cellular mechanisms of TSE pathology
22915585 Soluble prion protein inhibits amyloid-beta (Abeta) fibrillization and toxicity
22895089 The presence of a terminal sialic acid moiety, a rare modification of mammalian glycosylphosphatidylinositol anchors, was essential in the activation of cytosolic phospholipase A2 and synapse damage induced by cross-linked PrPc.
22895088 The study detected a significant association between sporadic Creutzfeldt-Jakob disease and 1368T/T genotype.
22876179 The tight correlation between conversion potency of small oligomers of human sPrP(Sc) observed in vitro and duration of the disease suggests that sPrP(Sc) conformers are an important determinant of prion strain characteristics
22874673 Pathologic effects of ABETA can be mediated by binding to PrPc.
22861352 A role for PrPC in placental copper homeostasis and protection against oxidative stress.
22860629 PrPC in pluripotent human embryonic stem cells cultured under self-renewal conditions induces cell differentiation toward lineages of three germ layers: cell cycle dynamics, self-renewal and differentiating embryonic stem cells.
22842913 PrPc may play a role in the multimolecular signaling complex associated with cell apoptosis lipid rafts and their components.
22820080 Prion protein expression in pancreatic adenocarcinoma is associated with a four times higher risk of death.
22796214 Altered expression of prion protein causes changes in the expression of many other proteins, including BACE-1.
22791135 The study presents thermodynamic and spectroscopic investigation on the role of Methionine residues in Cu(II) binding to the non-octarepeat site of the human prion protein.
22788868 the copper-binding site located in the human C-terminal domain of PrP-HuPrP(90-231), both in the wild-type protein and in the protein carrying the pathological mutation Q212P
22763467 This study reported two unrelated Creutzfeldt-Jakob cases (Patient 1 and Patient 2) carrying a novel I215V point mutation at the PRNP gene that present variable age at onset and clinical course with neuropathological features of Creutzfeldt-Jakob disease.
22685557 Data indicate that apoptosis induced by misfolded PrP proteins could be regulated by protein disulfide isomerase (PDI) via mitochondrial dysfunction.
22676969 structural investigation of recombinant HuPrP (residues 90-231) carrying E219K polymorphism (Heterozygotes are resistant to Creutzfeldt-Jakob Syndrome.): Data suggest that protective influence of E219K polymorphism is due to altered surface charges.
22675855 in this unique population of familial Creutzfeld-Jakob disease patients carrying the E200K mutation, myoclonus was less prevalent than previously reported while other extrapyramidal signs were common and occurred at a relatively early stage of the disease
22669942 Position 129 appears to be a key site for dictating PrP receptiveness toward recruitment into the amyloid state.
22658899 pathological laughing and crying were observed in 3 patients with Creutzfeldt-Jakob disease with prion protein gene codon180 mutation (V180I CJD); it was suspected of being induced by the widespread cerebral cortical involvement that is characteristic of V180I CJD
22615124 MT-3 modulates the catalytic redox properties of PrP-Cu(II)
22612156 These findings expand the possible diagnostic utility of (1) H MRS in familial prion disorders.
22584955 A genotype-phenotype correlation of the codon 200 mutation of the prion gene was studied in patients of a single family.
22561193 The study aims to identify specific genotype patterns and characteristics in the PRNP genomic region and to understand susceptibility among Korean discriminated prion disease patients.
22558368 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 Creutzfeldt-Jakob disease
22511770 Integrity of helix 2-helix 3 domain of the PrP protein is not mandatory for prion replication
22505365 Our findings support the hypothesis that polymorphism in the regulatory region of the PRNP gene may play an important role in the pathogenesis of sporadic Creutzfeldt-Jakob[review]
22484317 The octarepeat domain of human PrPc contains GW/WG motifs that bind Argonaute (AGO) proteins, the essential components of microRNA (miRNA)-induced silencing complexes .
22411239 This study presented that Gerstmann-Straussler-Scheinker with mutation in the PRNP gene at codons 102, 105, 117, 131, 145, 187, 198, 202, 212, 217 and 232.
22384235 analysis of the allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Straussler-Scheinker disease with the P102L mutation
22363722 This study aimed to clarify the role of APP intracellular domain in regulating PrP(C).
22356913 evidence of generation and accumulation of beta-sheet-rich prion protein in scrapie-infected neuroblastoma cells with human IgG1 antibody specific for beta-form prion protein
22318125 The results of this study supported the concept of a complex intracellular pathogenetic scenario involving disease-associated mutant PrP.
22252492 PrP(C) affects multiple processes involved in tooth formation, through regulating the differentiation of ameloblasts and odontoblasts
22210626 GWAS of sporadic, variant and iatrogenic CJD, inherited prion disease, kuru and resistance to kuru; PRNP locus was highly associated with risk in all geographical and aetiological groups; likely PRNP locus contains the only strong risk factors that act universally across human prion diseases; data are most consistent with several other risk loci of modest overall effects
22184125 alpha-Secretase-derived fragment of cellular prion, N1, protects against monomeric and oligomeric amyloid beta (Abeta)-associated cell death.
22155634 The present study helps to understand the effects of T188K/R/A mutations on human PrP.
22129783 Genetic variations within PRNP, FOXP2, and APOE, modulate primary progressive aphasia disease, leading to a specific regional hypoperfusion according to different molecular pathways.
22128151 Interactions between the conserved hydrophobic region of the prion protein and dodecylphosphocholine micelles.
22076653 Human cellular prion protein (CD230) colocalizes with HIV-1 Gag at the plasma membrane and at the virological synapse in infected T cells
22046086 PrPc expression is associated with histological types and differentiation of gastric cancer cells, and might be a valuable marker in predicting the efficacy of chemotherapy and the prognosis of gastric cancer patients receiving chemotherapy.
22036844 Expression of normal PrP(C) is regulated by HIF-1alpha, and PrP(C) overexpression induced by hypoxia plays a pivotal role in hypoxic inhibition of prion peptide-induced neuron cell death.
22032174 Residues 138-141 and 183-192 of human prion protein form new beta-strands in several exchange-competent structures.
22031292 PrP(C) might play a role in the complex multimolecular signaling associated with CD95/Fas receptor-mediated apoptosis.
22028931 instability of the octarepeat region of the human prion protein gene
22002245 analysis of Y145Stop prion protein fibrils
21983261 M232R mutation in the prion protein gene may be associated with different morphological features of PrP deposition and disease progression in Creutzfeldt-Jakob disease
21980981 PrPC resists TNFalpha apoptosis due to a modest, but statistically significant, cell-specific cytoprotection compared with mock-transfected cells.
21980292 Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.
21957261 A short segment containing positively charged amino acids at the amino terminus of transgenic PrP plays an essential role in mediating PrP-related neurotoxicity.
21957246 Transgenic mice expressing PrP(Asp167Ser) develop a progressive encephalopathy characterized by abundant PrP plaque formation, spongiform change, and gliosis.
21943430 fibrils formed by the rabbit protein contain less beta-sheet structure and more alpha-helix structure than those formed by the proteins from human and cow
21920025 Polymorphism at codon 129 of the prion gene is associated with variant Creutzfeldt-Jakob disease.
21911696 Genetic analysis in the proband identifies a novel defect in PRNP, with 1 mutated allele carrying a 288-base pair insertion consisting of 12 octapeptide repeats.
21900252 analysis of novel long range inter-domain interactions of the N- and C-terminal regions of PrP upon Cu(2+)-binding, which might have physiological significance
21875156 Results obtained from molecular modeling show that amino acid point mutations, though not urgently change the stability of PrP, might have some local impacts on the protein interactions which are required for oligomerization into fibrillar species.
21857997 Data show that TPPP may work as a protective factor for cells against the damage effects of the accumulation of abnormal forms of PrPs, besides its function as an agent for dynamic stabilization of microtubular ultrastructures.
21841253 Overexpression of the longest human tau isoform in cultured primary cortical neurons has a strong impact on PrPC prion trafficking, inducing a marked down-regulation of the cell-surface bound PrPC.
21839748 The NMR structure of V210I mutant offers new clues about the earliest events of the pathogenic conversion process that could be used for the development of antiprion drugs.
21833705 This study suggested that familial CJD in E200K patients may have a different disease distribution, with more frequent involvement of the deep gray matter that leads to different MRI and EEG patterns.
21827207 NMR data presented here for fibrils prepared from highly 13C- and 15N-enriched protein molecules establish rather unequivocally that the PrP23-144 beta-sheet core displays an overall parallel in-register alignment.
21804240 Peptides from the middle region of PrPc showed a high affinity for Cu2+, but binding to Zn2+, Ni2+, and Co2+ was dependent on peptide length.
21799773 genetic interaction between APOE and PRNP
21795680 Although PrP(C) exerts no control on cleavage of APP(Swe) by BACE1, it has a profound influence on the cleavage of APP(WT), suggesting that PrP(C) may be a key protective player against sporadic Alzheimer disease.
21763357 The binding of Tau stabilizes tubulin in a conformation less susceptible to oligomerization by PrP.
21743439 Aggregated beta-PrP reduced the 20S proteasome's basal peptidase activity, and the enhanced activity induced by C-terminal peptides from the 19S ATPases or by the 19S regulator itself, including when stimulated by polyubiquitin conjugates.
21689534 The folding of a peptide consisting of residues 109-122 of the Syrian hamster prion protein and of a more amyloidogenic A117V point mutant that leads in humans to an inheritable form of the Gerstmann-Straussler-Scheinker syndrome, was characterized.
21654203 Results indicate that, if PrP (C) is involved in mediating the toxic effects of the oligomeric Abeta peptide, these effects occur independently of steady state levels of PrP or the codon 129 polymorphism.
21631281 a possible involvement of CD36 and SR-B1 in microglial interaction with amyloidogenic fragments of beta-amyloid and prion proteins
21616973 This study provided the evidence for a susceptibility haplotype that may be an important determinant of penetrance in 4-octapeptide repeat insertion and possibly other similar inherited prion diseases
21600043 findings support the hypothesis that genetic variations in the PRNP promoter may have a role in the pathogenesis of sCJD
21597335 A Chinese Creutzfeldt-Jakob disease patient was found to have E196K mutation in PRNP.
21593310 PrPc prion has a role in mediating synaptic plasticity disruption by soluble amyloid-beta protein.
21559407 mutant or cytosolic PrP expression in transgenic mice and human or rat cells is not associated with endoplasmic reticulum stress or proteasome dysfunction
21552571 pathogenic mutations share a common pattern of dynamical alterations that converge to the conversion of the PrP beta2-alpha2 loop into an interacting region that can be used as target for interference treatments in genetic diseases
21508834 An E200K mutation, which confers a risk of developing genetic CJD, was detected in corneal donors and in the general population.
21478678 Interfering with the cellular prion protein expression could modulate autophagy-dependent cell death pathways in glial tumor cells.
21478263 Results demonstrate an unexpected function for PRNP, which, in addition to plasma membrane-anchored PrP, also encodes a second polypeptide termed AltPrP.
21453198 PrP is predominantly di-glycosylated in human diaphragm.
21451573 PrP90-231-induced cell death is associated with intracellular accumulation of insoluble and protease-resistant macroaggregates and lysosomal dysfunction.
21439722 apoptosis resistance by the cellular prion protein is dependent on its glycosylation status in oral HSC-2 and colon LS 174T cancer cells
21385869 an N-terminal polybasic domain and cell surface localization are required for mutant prion protein toxicity
21356381 These results show that the co-occurrence of types 1 and 2 PrP(protease resistant) within a single sporadic Creutzfeldt-Jakob disease MM1 patient is a universal phenomenon.
21338080 the conversion mechanism associated with the conformational change in prion proteins
21323366 Structures of the same segment from human, mouse, and hamster PrP, critical for forming amyloid and confers species specificity in PrP seeding experiments and gives rise to transmission barriers in prion disease.
21320996 There was no statistically significant difference in frequency of Prnp 129 genotypes between patients with primary progressive multiple sclerosis and controls.
21301993 Data suggest that Hax-1 is a new PrP-interacting partner that may play role in cell oxidative stress and anti-apoptosis physiologically and cell damage pathologically.
21298055 the retention of PrP in ER through formation of Ctm-PrP results in ER stress and cell apoptosis
21297264 a novel seven extra-repeat insertional mutation in the PRNP gene in a family affected by early-onset autosomal dominant Frontotemporal dementia
21296677 Hsp104 can interfere in the fibril assembly and disassembly of human PrP106-126 segment
21293298 Data indicate that the prion protein E196K mutation is causally linked to human prion disease, and there is a complex phenotypic spectrum of this mutation that includes nonspecific symptoms at onset and features typical of sCJD during disease progression.
21265952 our data characterize a novel molecular mechanism that links PrPc expression to the regulation of glycolysis.
21257747 a conserved physiological activity between PrP(C) and Sho to protect cells from stress-induced toxicity and suggests that Sho and PrP(C) might act on similar signaling pathways.
21232818 we identified 7 patients with the rare mutation E196K in PRNP gene. In absence of family history, they mimicked sporadic Creutzfeldt-Jakob disease (CJD).
21212268 Recovery of small infectious PrP(res) aggregates from prion-infected cultured cells
21209079 cervid PrP(Sc) can induce the conversion of human PrP(C) but only after the chronic wasting disease prion strain has been stabilized by successive passages in vitro or in vivo
21193246 A range of imaging, neuropsychological, cerebrospinal fluid, and pathological findings are reported that extend the known phenotype. APP but not PRNP duplication is a significant cause of early onset dementia in the UK. T
21119307 RTN3 negatively regulates autophagy to block the clearance of cytoplasmic PrP aggregates.
21116546 This review examines recent studies on the thermodynamics of copper association with amyloid-beta, alpha-synuclein and prion protein.[Review]
21107851 [review] PrP(Sc) types, possibly enciphering the prion strains, together with the naturally occurring polymorphism at codon 129 in the prion protein gene, have a major influence on the disease phenotype.
21107135 A patient with familial Creutzfeldt-Jakob disease is reported with a very rare mutation at threonine188arginine.
21094273 Increased hydrophobicity is one of the main determinants of toxicity induced by different mutations in prion protein-derived peptides.
21071944 This report is the first description of both genotypesof PRNP occurring within a family with genetic human prion disease
21062360 results could support the hypothesis that PrPc accumulation in dystrophic neurites reflects a response to impairments in cellular degradation, endocytosis, or transport mechanisms associated with Alzheimer's disease
21058033 This review describes how prion diseases are believed 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).
21029243 The sedimentation properties of the aggregated, insoluble and protease-resistant form (PrP(Sc)) of the normal cellular prion protein can correlate with and may underlie the distinct neurodegeneration occurring in different brain regions.
20970434 The comparison of the structural stability of prion proteins from the three species rabbit, human and mouse showed that the human and mouse prion protein structures were not affected by the removing the two salt bridges
20949975 molecular dynamics of wild-type and disease-associated mutations G131V, S132I, and A133V of PrP; results indicate that the mutations induced different effects but they were all related to misfolding of the native beta-sheet
20932979 Overall, mutations in the hydrophobic core have a significant effect on the dynamics and stability of PrP, including the propensity to misfold, which helps to explain their role in the development of familial prion diseases.
20930299 Age-related decreases in PrPC in the brain may contribute to increased incidence of Alzheimer's disease in older people.
20923664 Extensive molecular-dynamics simulations were performed on the recombinant PrP protein (residues 90-230) in water at three different pH regimes.
20919751 Results describe the globular domain of the H187R mutant of human prion protein by molecular dynamics simulations.
20880607 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
20870462 Studies indicate that the misfolding and aggregation of the prion protein are akin to the genesis of amyloid fibrils.
20861579 The allele and genotype frequency of rs1799990 is found to be different among different ethnic groups.
20838930 Results highlight a close linkage between disruption of microtubule framework and cell death caused by abnormal presence of cellular PrP in cytoplasm.
20816195 Observational study of gene-disease association. (HuGE Navigator)
20804519 PrP 106-126 peptide fragment exerts selective toxicity in a blood-brain barrier model causing the remaining porcine brain endothelial cells to undergo coordinated remodeling of the intercellular junction and an expansion of their cell territory.
20799315 Mixtures containing a greater abundance of heparin showed almost complete inhibition of PrP(106-126) fibril formation.
20724601 PrPC Is Increased in the Brain of HIV-1-Infected Individuals with Neurocognitive Impairment.
20718410 The H187R mutation, which imposes a permanently positively charged residue in this region of the protein, has a dramatic effect on the folding of PrPc, resulting in a molecule that displays a markedly increased propensity to oligomerize.
20711061 MM homozygous carriers presented onset of Frontotemporal lobar degeneration on average 8.5 years earlier than patients who carried at least 1 valine on their PRNP codon 129
20694796 This review of experimental evidence suggests that phenotypic diversity in human prion disease relates in significant part to the existence of distinct human prion strains encoded by abnormal PrP isoforms with differing physicochemical properties.
20685658 Crystallographic studies of prion protein (PrP) segments suggest how structural changes encoded by polymorphism at residue 129 modulate susceptibility to human prion disease.
20661422 Study proposes that the spontaneous formation of prions in familial cases might be due to the disruptions of the hydrophobic core consisting of beta(2)-alpha(2) loop and alpha(3) helix.
20650901 Pro-prion binds filamin A, facilitating its interaction with integrin beta1, and contributes to melanomagenesis.
20625387 oxidation of methionine residues in Helix-3 represents an early and important event in the conversion of PrPC to PrPSc
20613639 study reporst a novel Gerstmann-Straussler-Scheinker GSS disease in a pathologically confirmed case and in two other affected family members
20593190 This is the first demonstration of intensified and combined neurodegeneration in a genetic prion disease due to a PRNP single point mutation.
20592456 PRNP M129V polymorphism is not associated with multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia.
20592456 Observational study of gene-disease association. (HuGE Navigator)
20583902 In a Serbian population no deletions or insertions are detected in the PRNP octapeptide repeat region, whereas deletions occur in other European populations.
20583902 Observational study of genotype prevalence. (HuGE Navigator)
20583301 Data show that PRNP genotype-phenotype correlations and population frequencies presented will help the diagnosis and genetic counselling of those with suspected inherited prion disease.
20576610 this binding is highly specific for a particular conformation adopted by the peptide in soluble oligomeric species
20574532 Observational study of gene-disease association. (HuGE Navigator)
20573963 PrP deletion mutant (Delta105-125) induces large, spontaneous ionic currents
20564346 The prion protein, PrPc expression was highly elevated in patients with colorectal cancer.
20564346 Observational study of gene-disease association. (HuGE Navigator)
20564047 in an acidic environment, Cu(2+) promotes the formation of neurotoxic soluble PrP oligomers
20562404 The final formal case classification of this patient was of possible vCJD,3 but the clinical opinion is that this is very likely to have been the first instance of vCJD in a PRNP codon 129 non-MM individual.
20552563 prion protein fragment PrP 185-206 causes the destabilization of negatively charged biological membrane models, making it permeable to potassium ions and to charged organic compounds
20547859 Defining sporadic Creutzfeldt-Jakob disease PRNP strains into six subgroups and their transmission properties.
20547212 Stable PrP(c) overexpression in SH-SY5Y cancer cells is sufficient to perturb cellular balance but insufficient to affect p53 protein expression.
20541558 Initial studies on the single point mutants E196K, F198S, V203I and R208H of the oxidized mouse construct, which are related to human prion diseases, reveal significant differences in the rate of aggregation.
20529115 Data indicate that polymorphism at prion protein codon 129 or mutation at codon 200 do not exert a measurable effect on the glycosylation and processing of PrP(c) in human prion diseases.
20526696 These data highlight that PrP mutants in region of octarepeats may undergo different pathways to trigger cell apoptosis, in which PrPs with inserted octarepeats via ER stress and PrP mutant without octarepeats via mitochondrial-related pathway.
20515747 Studies indicate that the 37-kDa/67 kDa laminin receptor is a receptor for the cellular prion protein (PrPc).
20515743 Studies indicate that the ability of PrP to undergo different modifications to varying extents depending upon precise cellular circumstances.
20515742 Studies indicate that spatial link between PrP and the microdomain-forming protein flotillins may contribute to PrP signaling, leading to thelocal assembly of membrane protein complexes at sites involved in cellular communication.
20506117 calnexin could bind PrP both in vitro and in vivo; calnexin prevents caspase-3-mediated cytotoxicity induced by PrP
20487506 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
20473510 [review] Abeta, PrP and tau all play a role in the neurodegenerative process via their connection to the cell cycle and cell death.
20465257 Described is the local structure and dynamics of stable oligomers formed by a peptide comprising residues 106-126 of the human prion protein (PrP).
20453509 Observational study of gene-disease association. (HuGE Navigator)
20422111 Studies indicate that prions are self-replicating protein conformers.
20413850 Observational study of gene-disease association. (HuGE Navigator)
20392961 results suggest that Fyn mediates mutant PrP neurotoxicity in addition to its role in cellular PrP signaling and reveal that sirtuin activation mitigates these neurotoxic effects
20198483 Clinical, histopathological and pathological prion protein PrP(Sc) is described that is characteristic of a Dutch family with a novel 7-octapeptide repeat insertion in PRNP, the gene encoding the prion protein PrP.
20195363 Data show that the amino terminus of PrP(C) participates in PrP(Sc) conversion, and may also be exploited for diagnostic purposes.
20175205 central region of PrP induces a reduction of specific K(+) channel conductances in basal forebrain neurons; suggests novel links between PrP signalling partners inferred from genetic experiments, K(+) channels, and PrP-mediated neurotoxicity
20145049 Cellular prion protein regulates T cell receptor-mediated T cell activation, differentiation and survival.
20109837 A polymorphism at codon 129 (encoding methionine or valine) of the human prion protein gene (PRNP), constitutes a powerful susceptibility factor in all types of prion disease.
20105449 The genetic aetiology in human prion disease continues to appear entirely restricted to small scale mutations within a single gene, the PRNP, with no evidence of multiplication of this validated candidate gene locus as a cause.
20077484 study reports two Creutzfeldt-Jakob disease patients with rhythmic pupillary and palpebral oscillation who had a mutation of prion protein codon 200 that resulted in the substitution of lysine for glutamate (Glu/Lys)
20049591 In simulations of the huH1 peptide, it was observed that the isolated H1 sequence is dominantly non-helical in water supporting the hypothesis that H1 unfolding is important in conversion of PrPC to PrPSc.
20036833 Studies indicate that the knowledge acquired from the knowledge about the prion protein may offer possibilities in the areas of diagnosis and therapy of prion diseases.
20036811 Studies indicate that nucleic acids and glycosaminoglycans seem to play a dual role in prion biology and could be fundamental to explaining how prion diseases arise, as well as in the development of effective therapeutic approaches.
20035629 DNA sequence analysis of vCJD patients has revealed the extent of genetic variation within this population to include potential new risk factors, and sCJD analysis has uncovered a novel PRNP polymorphism
20035629 Observational study of gene-disease association. (HuGE Navigator)
20028338 This study strengthens the linkage of the G114V mutation to Creutzfeldt-Jakob disease. It supports the worldwide distribution of fCJD despite differences in genetic background.
20005032 Data show that a patient with probable genetic prion disease with a Creutzfeldt-Jakob disease-like phenotype has a rare E196K mutation in the PRNP gene.
20004419 From the genetic point of view, the risk of people from Castilla y Leon to suffer vCJD should be similar to that of the other Spanish regions
20004419 Observational study of genotype prevalence. (HuGE Navigator)
19996123 A model by which mutant PrP induces overexpression of GDI, activating a cytotoxic feedback loop that leads to protein accumulation in the secretory pathway.
19927125 seven crystal structures of PrP variants: three of wild-type (WT) PrP containing V129, and four of the familial variants D178N and F198S, containing either M129 or V129
19923577 report a novel PRNP variant--G127V--that was found exclusively in people who lived in the region in which kuru was prevalent. It is an acquired prion disease resistance factor.
19917818 Creutzfeldt-Jakob disease case report of insertion mutation of five extra R2 octapeptide repeats (R1-(R2)7-R3-R4), with slowly progressive cognitive decline, parkinsonism, anxiety and a long disease duration of 92 months
19911184 2 cases of inherited prion disease carrying 2 novel consecutive stop codon mutations in the PRNP C-terminus, resulting in a prion protein cerebral amyloid angiopathy in 1 case & in an unusual Gerstmann-Straussler-Scheinker disease phenotype in the other
19910028 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19889475 Observational study of gene-disease association. (HuGE Navigator)
19882604 the urea denatured state of the cysteine oxidized and reduced state of hPrP as model of the fibril-forming intermediate of the human prion protein
19822779 to our knowledge, this is first description of Abeta plaques in familial CJD with the E200K mutation; kindred described here provides support that PrP(E200K) may result in increased Abeta deposition
19807656 The aggregated form of PrP(sc) enhances cell death and may encourages the development of vacuolation in the vicinity of the blood
19786843 GPI anchored PrP is important in the amplification and spread of prion infectivity from cell to cell [review]
19734292 we investigated the prevalence of PrP(Sc) types 1 and 2 co-occurrence, along with its effects on the disease phenotype and PrP strain characteristics
19728151 Cytotoxicity induced by the expression of Dpl and truncated PrP in neural derived cells are closely related with the apoptosis process.
19725833 These results demonstrate the feasibility of detecting prion protein (PRNP) accumulation in living patients with [F-18]FDDNP PET, and suggest an opportunity for its application to follow disease progression and monitor therapeutic interventions.
19710507 Dimerization is a sufficient molecular event responsible for initiating misfolding and aggregation of PrPc.
19709627 A single amino acid change in PrP is sufficient to induce a distinct human neurodegenerative disease, fatal familial insomnia, in knockin mice and the spontaneous generation of prion infectivity.
19698114 mutations of PRNP at codons 178, 200-129, and 232 reported in other countries were discovered among probable Creutzfeldt-Jakob disease patients in Korea
19697238 Three different hybrid hammerhead ribozymes, targeting different locations along the full length prnp mRNA, reduced expression levels by greater than 95% relative to the control.
19696976 transmissible spongiform encephalopathy with P102L mutation of PRNP appears to have a variable phenotypic expressivity
19690385 A subgroup of patients with pancreatic cancer was found to have tumors that expressed pro-PrP.
19675240 Tg(A116V) mice recapitulate many clinicopathologic features of Gerstmann-Straussler-Scheinker syndrome that are distinct from Creutzfeldt-Jakob disease, supporting PrP(A116V) to carry specific phenotypic information.
19643043 The accumulation of CytoPrP in cytoplasm may trigger cell apoptosis, in which mitochondrial relative apoptosis pathway seems to play critical role.
19607920 Data demonstrate a new type of differentiation of overlapping PrP(C) isoforms in brain homogenates using differential SDS solubility.
19606064 Observational study of gene-disease association. (HuGE Navigator)
19602567 current evidence for effects of single point mutations is discussed, indicating that PrP can be affected in many different ways, although questions remain about the mechanism by which mutations cause disease [review]
19601795 Studies indicate that a mutated variant protein or precursor protein including amyloid beta peptide, cystatin C, prion protein, transthyretin and gelsolin is abnormally metabolized and accumulates as amyloid.
19597535 the PrP(C) primary sequence around the N1/C1 cleavage site influences endoproteolytic processing at this location, which appears linked to MAP kinase signal transduction both basally and in response to copper
19587281 Phosphorylation could represent a physiological mechanism of PrP conversion in vivo.
19583442 Data show that binding of tricyclic aromatic compounds to prions occurs with millimolar affinity to motifs consisting of two neighboring aromatic residues.
19558790 The apoptosis induced by non-glycosylated PrP demonstrates that its underlying mechanism correlates with the mitochondria-mediated signal transduction pathway.
19556894 The work compares the expression and localization of PrP(C) in brains of human with Alzheimer disease and healthy ones. More PrP(C) is expressed in control brains than in AD cases.
19542614 The finding of decreased PrP levels in the CSF of patients not only with CJD but also in other neurodegenerative disorders is intriguing. Age-, gender-, and genetic-specific factors might be involved in the PrP c regulation.
19534429 VV genotype is associated with higher risk factor of MS development in the patients aged 21 years and older.
19534429 Observational study of gene-disease association. (HuGE Navigator)
19524515 Study shows that both (Ctm)PrP and cyPrP can interact with and disrupt the function of Mahogunin (Mgrn), a cytosolic ubiquitin ligase whose loss causes spongiform neurodegeneration.
19495414 in human mononuclear cells, the M129V PrP polymorphism has no significant impact on PrP expression, processing and the apparent glycoform distribution
19495414 Observational study of gene-disease association. (HuGE Navigator)
19477226 PrP(C) is a novel molecular partner for ADAM23 in the nervous systems.
19476383 The model amyloid peptide Prp(106-126) system facilitates investigations of the structure and mechanism of action of nonfibrillar oligomers of PrP(106-126) and may provide insight into the assembly of other amyloids.
19416900 analysis of the effects of methionine oxidation in human prion protein
19369250 analysis of the conformational properties of beta-PrP
19363267 From the logistic regression ananlsis of this stidy showed that the highest risk for was found for Alzheimer's disease individuals who co-inherited APOE epsilon4 allele, PRNP codon 129 homozygosity, PRND codon 174 Thr allele, and CYP46 rs754203 g allele.
19363267 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19351416 PRNP 1368 polymorphism was not significantly associated with incidence of sporadic Alzheimer's disease and vascular dementia in Koreans
19351416 Observational study of gene-disease association. (HuGE Navigator)
19327369 Results demonstrate by immunohistochemical analysis the colocalization of neuroglobin and PrP(c) in the retinal ganglion cell layer.
19321423 fast-folding protein has a transition state that is not compact analysis but contains a developing nucleus between helices 2 and 3
19278656 Core structure of amyloid fibrils formed by residues 106-126 of the human prion protein
19249347 UV light induces protein structural conversion and aggregation
19228673 This report adds further evidence to a continuous spectrum between fatal familial insomnia and CJD thesis from a large German prion pedigree with D178N mutation in the PRNP gene.
19226372 Molecular dynamics simulations in a model of recombinant PrPC and glycosylated and GPI-anchored human PrPC indicate that glycosylation and attachment to a membrane do not alter the structure of PrPC.
19218199 These data indicate that P102L or E200K mutations of human PrP have differing effects on prion propagation that depend upon prion strain type and can be significantly influenced by mismatch at the polymorphic residue 129.
19212444 Results suggest a functional role for PrP(C) in cellular iron uptake and transport to ferritin, and dysfunction of PrP(C) as a significant contributing factor of brain iron imbalance in prion disorders.
19210573 The promoting proliferation effect of PrP(C) (one octapeptide repeat deletion) was more than that of wild-type PrP(C).
19204171 Genetic polymorphism at codon 129 of the prion protein gene is not associated with multiple sclerosis.
19204171 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
19196429 Identification of helix 3 as the structural element for the anti-Bax function thus provides a molecular target to modulate PrPs anti-Bax function in cancer and neurodegeneration.
19172188 sulfoxidation of Helix-3 methionines might be the switch for triggering the initial alpha-fold destabilization required for the productive pathogenic conversion
19164910 the different ER covalent modifications, which collectively increase of PrP conformational diversity and may be important for its propagation.
19158507 results strongly suggest that the oligomeric form PrP(oligo) is in dynamic equilibrium with the monomeric forms
19156168 Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19140013 Results suggest a potential mechanism for the initiation of prion protein beta-sheet misfolding in the C-terminal domain by copper ions.
19129193 Identification of adjacent binding sites for the YY1 and E4BP4 transcription factors in the PrP (Prion) gene promoter.
19099191 Data provide new insights into the mode by which multidrug-resistant breast cancers evade cytotoxic attacks from P-glycoprotein substrates and also suggest a role for P-gp/cellular prion protein (PrP(c)) interaction in this process.
19081515 Observational study and genome-wide association study of gene-disease association. (HuGE Navigator)
19077115 Observational study of gene-disease association. (HuGE Navigator)
19074151 Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection.
19064990 ATM is a key regulatory protein to promote activation of p53 and Sp1 leading to PrP(C) elevation, which is required to reduce Cu(II) toxic effects and may play an important role in modulation of intracellular copper concentration.
19056496 Data demonstrate that the alpha-cleavage of PrP(C) occurs predominantly in a raft-independent manner in a late compartment of the secretory pathway.
19051123 an abnormality in anxiety levels among the healthy familial Creutzfeldt-Jakob disease mutation carriers may reflect the clinical presentation of the disease onset especially during and after any stressful experience[review]
19035579 low beta-conformation propensity of the 180-195 region depends on the simultaneous presence of all of the Ala-scanned residues
19030774 Primary dementia with prominent frontotemporal signs is a new phenotypical expression of P102L-related GSS that coexists in the same family with the ataxic form of the disease.
19010951 a novel insertional mutation in the prion protein gene may have a role in early-onset atypical dementia
19008948 Cattle BSE prions were 10- and 10(6)-fold more resistant to inactivation when compared to human sporadic Creutzfeldt-Jakob disease and hamster Sc237 prions
18990686 SP1 and MTF-1 represent new targets in the development of key therapeutics toward modulating the expression of the cellular prion protein and ultimately the prevention of prion disease
18959744 although binding of either GAG or Cu(2+) promotes the aggregation of rPrP, their aggregation processes are different, suggesting multiple pathways of rPrP aggregation
18955686 A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.
18930924 analysis of how prion protein amyloid formation under native-like conditions involves refolding of the C-terminal alpha-helical domain
18830724 Meta-analysis of gene-disease association. (HuGE Navigator)
18810471 Data show that patients with carotid disease have higher levels of plasma PrP(C) than the control group and a significant correlation between mRNA expression of PrP(C) and CD105 in tested plaques.
18786636 Results identified an interaction between prion protein and clusterin, a chaperone glycoprotein.
18722532 Data suggest that activation of PKCalpha, delta and epsilon, but not zeta, isoforms leads to increased N1 secretion via phosphorylation and activation of ADAM17.
18720902 The researchers found a geographic trend in the prevalence of methionine homozygosity at codon 129 of the prion protein gene, a risk factor for Creutzfeldt-Jakob, that decreases westward from the Middle East to Europe.
18720902 Observational study of genotype prevalence. (HuGE Navigator)
18706660 Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.
18691383 Our study emphasizes the important role of PrP(C) to protect cells from stress and indicate efficient intracellular pathways to degrade non-native conformations of PrP(C).
18665216 analysis of regulating factors of PrP glycosylation in Creutzfeldt-Jakob disease
18638557 Pathophysiological changes in transgenic mice appear to result from a prion strain-specific gain-of-function and may explain some of the distinguishing clinical features seen in variant Creutzfeldt-Jakob disease.
18619462 The aggregation pathways of the human prion peptide PrP82-146, a major component of the Gerstmann-Straussler-Scheinker amyloid disease, was studied.
18597782 result provides evidence for conformational differences between the beta(O) allelic forms, showing that the core region of the protein including position 129 is actively involved in inter-oligomer interactions, consistent with NMR observations.
18563793 The C-terminal alpha2-helical [amino acids 180-195] region of human PRP possesses intrinsic property to adopt beta- and alpha-conformation in water or trifluoroethanol.
18549399 the M129V polymorphism in the PRNP gene is not associated with mesial temporal lobe epilepsy in a Han Chinese population.
18549399 Observational study of gene-disease association. (HuGE Navigator)
18549395 our study does not show a significant difference in genotype (P = 0.2763) and allele (P = 0.3750) frequencies of PRNP 1368 between sporadic CJD and normal controls.
18549395 Observational study of gene-disease association. (HuGE Navigator)
18539633 characterization of the nanomechanical properties and molecular structure of amyloid fibrils formed by human prion protein PrP90-231
18508914 transamidation of the GPI signal sequence is a step in PrP biosynthesis that is absolutely required for its surface expression
18505059 POLR2F and PRNP exhibited elevated levels in carcinomas compared to normal tissue samples suggesting a possible role for these molecules in colorectal cancer.
18482256 study of PrPC-interacting proteins (PrPIPs) by protein microarray analysis; observations suggest a hypothesis that dysregulation of the PrPC interactome may induce neurodegeneration in prion diseases
18478114 data presented here argue in favor of T188K in PRNP being a pathogenic mutation causing genetic Creutzfeldt-Jakob disease
18445040 oxygen tension regulates GPI(-) PrPSV expression in T98G cells
18443555 analysis of a novel PRNP mutation in a patient with a slow progressive dementia syndrome
18436646 Magic-angle spinning solid-state NMR spectroscopy was used to provide high-resolution insight into the protein backbone conformation and dynamics in fibrils formed by (13)C,(15)N-labeled huPrP23-144.
18425766 PRNP genotyping may be a valuable tool to differentiate between prion disease and other neurodegenerative dementias.
18425766 Observational study of gene-disease association. (HuGE Navigator)
18423780 Data show that prion protein Val and Met carriers yield comparable brain activations for correct rejections of non-studied words and for working memory.
18423780 Observational study of gene-disease association. (HuGE Navigator)
18419754 SNX33 interferes with cellular PrP formation by modulation of PrP shedding
18413481 this case demonstrates that multisequences of magnetic resonance can detect prion-induced gliosis in vivo, as confirmed by a neuropathologic examination performed only a few days after radiological examination.
18406463 various conformational isoforms (native, amyloid fibrils, and beta-oligomers) of recombinant human PrP (90-231 and 121-231) bind C1q and activate complement.
18372408 Different pathologic processes explain the hypersignals observed on DWI, inducing increased and/or decreased diffusibility and emphasizing the added value of ADC measures to distinguish in vivo between molecular subtypes of CJD.
18349519 co-occurrence of pathology typical of sCJD & AD & inverse association between Abeta & PrP(Sc) in a subgroup of sCJD patients is indicative of common pathways involved in generation or clearance of Abeta & PrP(Sc) in a subgroup of sCJD patients
18347820 detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia from several European countries, notably Spain
18332630 absence of the APOE epsilon 4 allele in heterozygous codon 129 PRNP carriers is a negative predictor of survival in Alzheimer's disease
18325785 Prion protein glycosylphosphatidylinositol signal peptide functions as an efficient co-translational and inefficient post-translational translocation signal when tagged to an unrelated protein in the endoplasmic reticulum.
18275852 We found that rPrP(C(129M)) has a more exposed helix 1 region compared to rPrP(C(129V)).
18247504 An ab initio QM/MM approach and available experimental data were combined in order to identify and evaluate three potential copper(II) ion binding sites in the C-terminal portion of the normal cellular prion protein.
18236081 The synaptic trait of PrP c and PrP Sc suggests that synapse loss is the key event in neuronal death.
18236005 Observational study of gene-disease association. (HuGE Navigator)
18218718 Observation of a pH dependence of the secondary structure of prion protein intermediate forms, with almost native-like alpha-helical secondary structure at pH 4.1 and predominantly beta-sheet characteristics at pH 3.6
18217885 Observational study of gene-disease association. (HuGE Navigator)
18217885 This study does not support a role of PRNP polymorphism as a susceptibility factor for Alzheimer's Disease.
18204788 The glycosylphosphatidylinositol-anchor site, but not glycosylation, appears to be essential for the secretion of PrP.
18191917 C.ommon prion protein gene (PRNP) codon 129 polymorphism is a strong susceptibility factor for human prion diseases. Substitution of methionine and valine may be a susceptibility factor.
18191917 Observational study of genotype prevalence. (HuGE Navigator)
18188498 All four groups showed a very high interindividual variation. PrP(c)-positive glial cells were significantly reduced in the white matter of patients with schizophrenia, bipolar disorder, and major depression.
18051367 Human cellular prion protein (CD230) colocalizes with HIV-1 Gag at the plasma membrane and at the virological synapse in infected T cells
18038270 The molecular interactions between PrP and tau protein highlight a potential role of tau in the biological function of PrP and the pathogenesis of transmissible spongiform encephalopathies.
18025469 PrP(C) conformational conversion involves refolding of the C-terminal alpha-helical region. The amyloid core maps to C-terminal AAs ~ 160-220, forming single-molecule stacks on top of one another with parallel, in-register alignment of beta-strands.
18006836 silencing of PrPc facilitates the activation of proapoptotic Bax by down-regulation of Bcl-2 expression, thereby abolishing the resistance of breast cancer cells to TRAIL-induced apoptosis
17996224 Semi-quantitative multiplex-PCR and Western blot revealed a significant increase of PRNP expression level in differentiated vs. undifferentiated cells; PrP(c) level increased significantly in neurons and did not increase significantly in glial cells.
17987393 The distribution of the genotypes at codon 129 was found to be Met/Met 35%, Met/Val 48% and Val/Val 17%. The genetic results indicate that the Danish population is vulnerable to vCJD to the same degree as the British
17987393 Observational study of genotype prevalence. (HuGE Navigator)
17965961 Patients with CJD232( M232R substitution) had no family history like patients with sCJD, and showed two different clinical phenotypes in spite of having the same PRNP genotype.
17873292 PrP202N expressed in human neuroblastoma cells fails to achieve a mature conformation following synthesis and accumulates in the endoplasmic reticulum as 'curly' aggregates
17827389 role for tetraspanins CD63 and CD81 in trafficking of PrP(c).
17822808 Observational study of gene-disease association. (HuGE Navigator)
17709704 A South African family had a progressive dementia and atypical pathology associated with kuru-like prion protein plaques. The original mutation in this family occurred on a PRNP allele encoding a 1-octapeptide repeat deletion polymorphism.
17570906 Observational study of gene-disease association. (HuGE Navigator)
17570906 there is no significant difference in the genotype, allele and haplotype frequencies of PRNP codon 129 and 219 polymorphisms between Korean vascular dementia patients and normal controls
17560545 thermostability of Human PrP(C) is comparable with that of chicken PrP(C)
17539938 Observational study of gene-disease association. (HuGE Navigator)
17519231 analysis of species-specific differences in the intermediate states of human and Syrian hamster prion protein detected by high pressure NMR spectroscopy
17497959 human brain PrP(C) interacts with selectins in a manner that is distinct from interactions in peripheral tissues; alternations in these interactions may have pathological consequences
17472702 We found that rPrP fibrils but not alpha-rPrP or soluble beta-sheet rich oligomers caused degeneration of neuronal processes. Degeneration of processes was accompanied by a collapse of microtubules and aggregation of cytoskeletal proteins.
17449139 PrP is a component of signaling structures recently described as plasma membrane microclusters established during T-lymphocyte activation.
17414209 review focuses on transfusion-transmission of variant Creutzfeldt-Jakob disease by red cell preparations
17410475 Observational study of genotype prevalence. (HuGE Navigator)
17410475 Finds high prevalence of Met/Met alleles in Taiwan did not imply an increased risk of CJD, and the genetic susceptibility of CJD by codon 129 of PrP may be still elusive for the infectivity
17409275 Overexpression of PrP(C) promotes the tumorigenesis & proliferation of gastric cancer cells partly by activating the PI3K/Akt pathway & CyclinD1 to regulate the G1/S phase transition. The octapeptide repeat region may be indispensable.
17385076 Rapidly progressing fatal familial insomnia with D178N muatation and 129Met homozygosity was detected in a Chinese family.
17334659 Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation.
17313881 Meta-analysis of gene-disease association. (HuGE Navigator)
17276393 Combined molecular, biochemical, and single living polarized cell imaging characterizations suggest that hPrP(C) is selectively targeted to the apical side of Madin-Darby canine kidney (MDCKII) and of intestinal epithelia (Caco2) cells.
17260961 Equilibrium binding and kinetics of FRET show that the PRNP binding to the oligonucleotides and their bending occur simultaneously.
17242357 analysis of experimentally derived constraints for high-resolution structural models of PrP amyloid fibrils
17202849 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
17202849 results suggest that the PRNP genetic variants are not associated with the risk for Alzheimer's disease in Korean population
17192785 Meta-analysis of gene-disease association. (HuGE Navigator)
17156017 prion protein does not require other Bcl-2 family proteins to protect against Bax-mediated cell death
17149767 Increased plasma PrP(C) reflects an endogenous increase in expression in acute stroke-affected brain tissue.
17134829 This study suggested that polymorphism at position -101 in the regulatory region of PRNP may be a risk factor for sCJD among codon 129 heterozygotes.
17121821 p53-dependent staurosporine-induced caspase-3 activation is affected by the C-terminal products of cellular prion protein processing, C1 and C2
17092648 Observational study of gene-disease association. (HuGE Navigator)
17092648 This is the first publication of data that support the hypothesis that the common methionine/valine polymorphism at codon 129 of the PRNP gene may modify the susceptibility of women to mild temporal lobe epilepsy.
17047093 Observational study of gene-disease association. (HuGE Navigator)
17029361 NMR spectroscopic methods indicate that Rhodium( coordinates the copper-binding octapeptide region of human prion proteins.
17023178 Oxidative stress might be an influence that leads to substantial structural conversions of PrP in vivo.
16987816 first study that provides experimental evidence supporting the hypothesis that there might be silent prions lying dormant in normal human brains
16950206 physiological level of endogenous PrPC plays a protective role against staurosporine-mediated cellular stress
16934224 prion protein may act as an inhibitor of microtubule assembly by inducing formation of stable tubulin oligomers
16925523 The highest affinity copper (II)-binding modes cause self-association of both peptides, suggesting a role for copper (II) in controlling prion protein self-association in vivo
16921242 Autopsy-proven Creutzfeldt-Jakob disease with a codon 180 mutation (valine change to isoleucine)
16914329 1-OPRD (one octapeptide-repeat deletion) homozygosity or heterozygosity exists in several gastric cancer cell lines, e.g. MKN28 and KatoIII are homozygous for 1-OPRD, and SGC7901 and BGC-823 are heterozygous for 1-OPRD.
16908519 there is a link between ER stress and the formation of cytosolic PrP isoforms potentially endowed with novel signaling or cytotoxic functions
16897605 Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator)
16897605 Prion protein gene MM genotype increases late-onset Alzheimer's disease risk in Polish population
16889908 Observational study of gene-disease association. (HuGE Navigator)
16889908 Polymorphic microsatellite sites within 148 kb of the human prion gene complex, including the genes PRNP, PRND and PRNT, were analysed together with the Codon129 variants regarding 50 Creutzfeldt-Jakob Disease patients and 46 non-diseased control persons.
16858508 Observational study of genotype prevalence. (HuGE Navigator)
16847689 According to PrP gene polymorphism and PrP type, 18 cases were classified as MM1-type, two as MV1-type, two as MM2-type and one as MM1 + 2-type sporadic Creutzfeldt-Jakob disease.
16847141 the polymorphism at residue 129 does not change efficiency of conversion to beta-PrP conformation or affect binding of copper ions, but in a partially denatured conformation, it has a profound influence on ability of the protein to form amyloid fibrils
16831968 Observational study of gene-disease association. (HuGE Navigator)
16831968 the human PrP polymorphism M129V influences the onset of symptoms in patients with the copper storage disorder Wilson disease
16825956 fetal and perinatal cellular prion protein (PrPC) expression in the forebrain; early expression of PrPC in the axonal field may suggest a specific role for this molecule in axonal growth during development
16825951 neuropathology and the characteristics of the PrPSc associated with the H187R mutation in Gerstmann-Straussler-Scheinker disease
16824036 At pH 5.5 the prion protein binds 2 Cu2+ ions. All 6 histidines of the unfolded N-terminal domain & the N-terminal amine are ligands. A new interaction between the N-terminal & C-terminal domains is seen when the protein is loaded with Cu2+.
16764594 elevated plasma PrP(C) levels in renal disease were observed, showing that plasma PrP(C) is not a specific marker of neurological disease or Creutzfeldt-Jakob disease
16750169 findings show that AChE induces a remarkable aggregation of PrP 106-126 with a mechanism similar to that described for amyloid beta protein
16704797 protease-resistant prion protein (PrPres) in spontaneous lymphoreticular tumors of mice infected with the agent of variant Creutzfeldt-Jakob disease (vCJD)
16674609 Observational study of genotype prevalence. (HuGE Navigator)
16672189 Sequencing the PRNP gene in Caco-2 and HT-29 parental and clonal cell lines, revealed that these cells have a distinct polymorphism at codon 129 and PrPc is expressed in lipid rafts.
16582585 PrP(C) might play a role as an effective antiapoptotic protein through Bcl-2-dependent apoptotic pathways in gastric cancer cells.
16580884 Observational study of gene-disease association. (HuGE Navigator)
16580884 the presence of Prnp variant alleles was found not to be significantly associated to cognitive performance of patients with mesial temporal lobe epilepsy with hippocampal sclerosis
16547836 Observational study of genotype prevalence. (HuGE Navigator)
16547836 Finds polymorphism at codon 129 of PRNP gene implicated in the development of CJD in Greek population. Met/Val allele frequencies and genotype distribution examined in 348 individuals. Genotypes Met/Met 50%, Met/Val 39% and Val/Val 11% were observed.
16545382 Aggregation behaviour of various peptides within the region 106-157 of the sequence of human prion protein was examined.
16543824 Observational study of gene-disease association. (HuGE Navigator)
16537913 These data highlight the underlying mechanisms of C-transmembrane form of prion protein [(Ctm)PrP] biogenesis and neurotoxicity and reinforce the idea that (Ctm)PrP may serve as the proximate cause of neuronal death in certain prion disorders.
16533975 This study strengthens the linkage of the R208H mutation to Creutzfeldt-Jakob disease and points to some particular features such as Kuru plaques and long-standing psychiatric signs.
16519692 The results provide experimental evidence in support of previous suggestions that NMR structures of soluble, anchor-free forms of PrP represent the structure of cellular, membrane-anchored PrP.
16478730 Prion proteins with insertion mutations have altered N-terminal conformation and increased ligand binding activity and are more susceptible to oxidative attack
16460908 the genomic structure of three genes, PRNP, PRND, and RASSF2, within the syntenic region of the bovine genome is highly conserved in order and orientation.The PRNT locus was not found in bovine but is conserved in several primates, including human
16443601 N-terminal familial mutations have roles in prion protein fibrillization and prion amyloid propagation in vitro
16434486 The presence of PrP(C) on platelet-derived exosomes suggests a possible mechanism for PrP(C) transport in blood and for cell-to-cell transmission of prion disesase.
16432880 Misfolding appears to be a rearrangement of the chain that disrupts most of the native secondary structure of the protein, producing some beta-rich conformations with an energy distribution similar to that of the native state.
16342955 examined the unfolding transitions of PrP(C), using the chemical denaturant guanidine hydrochloride (GuHCl). When the protein conformation is assessed by NMR, there is a gradual shift of NMR signals in the regions between residues 125-146 and 186-196
16324095 Observational study of genotype prevalence. (HuGE Navigator)
16315279 Observational study of gene-disease association. (HuGE Navigator)
16315279 strong association between heterozygosity and primary progressive aphasia
16314483 Homozygosity at codon 129 suggests that codon 129 coupled with the mutation as well as that located on the normal allele can modify major phenotypic features of Creutzfeldt Jakob disease.
16298483 Observational study of gene-disease association. (HuGE Navigator)
16287045 Observational study of genotype prevalence. (HuGE Navigator)
16286452 PrP82-146 polymerizes according to the "dock-and-lock" model
16263114 High levels of Prpc C-terminal fragment (C1) are associated with the presence of the active ADAM 10 suggesting this zinc metalloprotease as a candidate for the cleavage of PrP(c) in the human brain.
16217673 Observational study of gene-disease association. (HuGE Navigator)
16217673 homozygous PRNP codons 129 and 219 may have a role in sporadic Creutzfeldt-Jakob disease in the Korean population
16215462 Strong microglial activation was associated with type 1 PrPSc and diffuse PrP immunoreactivity, whereas type 2 PrPSc and focal PrP deposits were accompanied by mild microglia reaction.
16215457 The 14-3-3 protein forms molecular complex with Hsp60 and PrPC in human CNS under physiological conditions, and this complex might become disintegrated in pathologic process of prion diseases.
16192387 study suggests that PrPC has physiological relevance to cerebral ischemic injury and could be useful as a therapeutic target for the treatment of cerebral ischemia
16187142 Observational study of genotype prevalence. (HuGE Navigator)
16175355 PrP deposition in the spinal cord is an early pathologic event in sporadic Creutzfeldt-Jakob disease and may remain to the end stage.
16156720 in the present study we have found that PrP exhibits no detectable dismutase activity above baseline levels measured for copper (II) ions in water when assayed using a reliable procedure with a detection limit of at least 2 units of activity/mg of protein
16120605 the beta-cleavage of PrP(C) is an early and critical event in the mechanism by which PrP protects cells against oxidative stress
16119432 Finds polymorphism at codon 129 of prion protein gene confers similar genetic susceptibility to vCJD in Brazilian populations as in European and Asian countries.
16099923 studies are consistent with the view that the proportion of each glycoform incorporated into PrPSc is probably controlled in a strain-specific manner and that each PrPSc particle contains a mixture of glycoforms
16099550 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
16051190 Following platelet activation, the majority of released PrP(C) was detected as a disulphide linked high molecular weight complex
16025285 We report a case of Gerstmann-Straussler-Scheinker disease with the PRPc Q217R mutation mimicking frontotemporal dementia.
16009550 Observational study of genotype prevalence. (HuGE Navigator)
15997418 Observational study of gene-disease association. (HuGE Navigator)
15997418 Our results may provide first evidence of an association between certain PRNP129 polymorphisms and the clinical presentation of IPD.
15987701 Observational study of gene-disease association. (HuGE Navigator)
15987701 These results suggest a role for the prion protein in the formation of long-term memory in humans
15946217 The expression of PrP(C) appeared to increase with differentiation and polyploidization in the megakaryocyte lineage. PrP(C) was located within platelet alpha-granules and its source is likely to be from megakaryocyte precursors.
15862295 The presence of valine at residue 129 in prion protein accelerates amyloid formation.
15850959 Review. The relationship between PrPC, copper and oxidative stress was analysed. PRPC has an amino-terminal region contains a repeated five octapeptide domain that binds copper.
15846375 PrP protects against Bax-mediated cell death by preventing the Bax proapoptotic conformational change that occurs initially in Bax activation
15837581 Transgenic mice with a selective deletion of PrPC exhibit deficits in hippocampal-dependent spatial learning, but non-spatial learning remains intact.
15775715 This study is the first to show any dysfunction in healthy CJD mutation carriers.
15748158 Caspase 3 activation associated with cellular prion is closely related to its ability to undergo endocytosis. This is, to our knowledge, the first direct description of an endocytosis-dependent PrP(c)-associated function.
15684434 Data show that structure and coordination of human prion protein (PrP) copper binding sites are conserved in the pH 6.5-7.4 range, and that chicken PrP hexarepeat motifs display homologous Cu(II) coordination at sub-stoichiometric copper concentrations.
15639746 Observational study of genotype prevalence. (HuGE Navigator)
15639746 Polymorphism at this site in French subjects, compared with previously published data from Western Europe and Turkey.
15609351 recombinant PrPc binds to human plasminogen
15591591 C-terminal globular domain of PrPC has an impact on membrane anchoring and indicates that misfolded secreted forms of the prion protein are linked to inherited prion diseases in humans.
15583862 PrPc has a role in signaling pathways; lateral redistribution of the protein into rafts is important for subsequent signal transduction
15557533 A 72 bp insertion between codons 51 & 91 consisting of a three-time octapeptide repeat (R3g, R2, R2), a codon 219 Lys/Lys polymorphism, and a codon 129 Met/Met polymorphism were found in a sporadic case of Creutzfeldt-Jakob disease.
15555583 the first direct evidence for the complex formation between a proteolytic enzyme, proteinase K, and a segment of human prion molecule
15539564 demonstrated that BSE and vCJD prion infection in transgenic mice can result in the propagation of distinct molecular and neuropathological phenotypes dependent on host PrP residue 129
15488240 Observational study of genetic testing. (HuGE Navigator)
15469448 Observational study of gene-disease association. (HuGE Navigator)
15304595 a rare polymorphism at codon 171 (Asn-->Ser) of human Prnp is associated with symptomatic epilepsies related to different forms of malformations of cortical development.
15277640 Observational study of gene-disease association. (HuGE Navigator)
15277640 The PRNP Met129Val polymorphism may be associated with the pathogenesis of early-onset Alzheimer disease.
15266305 Observational study of genotype prevalence. (HuGE Navigator)
15266305 A novel three extra-repeat (72 bp) insertion within the octapeptide-coding region was identified in a Chinese family.
15258222 Meta-analysis of gene-disease association. (HuGE Navigator)
15247220 there are multiple PrP(Sc) conformations in different Creutzfeldt-Jakob disease subtypes
15215178 PrPc accumulation and neuroprotection in hypoxic brain damage was studied in aging humans of both sexes.
15208260 A CAGA box on a partial loop occurs in the PRNP sequence in close proximity to the start codon.
15203115 results demonstrate that Doppel and PrPc co-patch extensively at the plasma membrane
15148589 Observational study of genotype prevalence. (HuGE Navigator)
15148589 the PRNP polymorphism is more common in the Korean than in the Japanese population
15140132 All plasminogen activators tested bearing kringle domains bind to PrP23-110; the lysine-binding site of kringle 2 that is unique to t-PA appears to mediate the specific stimulation of plasminogen activation by the cellular prion protein
15131108 compared the misfolding pathway that leads to the formation of beta-sheet-rich oligomeric isoforms of the methionine 129 variant of PrP to that of the valine 129 variant
15123682 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC
14983221 prion-protein fragment PrP23-110 lysine clusters have a role in t-PA mediated plasminogen activation
14970845 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
14761942 partially structured intermediates of PrP may play a crucial role in prion protein conversion
14745079 Observational study of gene-disease association. (HuGE Navigator)
14744790 PrP(c) overexpression converts TNF-sensitive MCF7 cells into TNF-resistant cells.
14668351 studies illustrate that in vitro conversion of recombinant prion protein displays specific features of an autocatalytic process and mimics the transmission barrier of prion propagation observed in vivo
14616310 Observational study of genotype prevalence. (HuGE Navigator)
14610121 Observational study of gene-disease association. (HuGE Navigator)
14610121 The PRNP variant allele Asn171Ser is associated with epileptogenesis and highly prevalent in patients with medically untreatable mesial temporal sclerosis with hippocampal sclerosis and influences their surgical outcome
14593432 Observational study of gene-disease association. (HuGE Navigator)
14593432 association of a common genetic variation in the prion protein gene with cognitive performance
14576159 PrPc has a role in the signaling of cell-cell contacts in epithelial cells
14519851 spontaneous conversion of the recombinant polypeptide corresponding to the Y145Stop variant (huPrP23-144) from a monomeric unordered state to a fibrillar form
12970341 the intrinsic properties of PrP-(82-146) are dependent upon the integrity of the C-terminal region and account for the massive deposition of PrP amyloid in GSS
12952977 interconversion of helix 1 of the prion protein is rather representing a barrier than a nucleus for the PrPC-->PrPSc conversion
12946346 interactions between small, highly structured RNAs and human recombinant prion protein (PrP) suggest possible roles of RNAs in the modulation of PrP structure and perhaps disease development
12917444 endoplasmic reticulum-associated degradation PrP is not converted naturally into a form reminiscent of scrapie PrP and that PrP located in the cytosol retains its protective function against Bax
12917418 proteinase K-resistant C-terminal fragments of PrP are identified in Creutzfeldt-Jakob disease brains
12867116 Observational study of gene-disease association. (HuGE Navigator)
12805563 a specific prion protein fragment has a role in disulfide stability by retarding the rate of fibril formation
12796830 Observational study of gene-disease association. (HuGE Navigator)
12796830 The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects.
12719777 plasmin cleaves PrP(c) in vitro and the liberated NH(2)-terminal fragment accelerates plasminogen activation
12694397 findings highlight the role of PrP in copper homeostasis and hint at its possible role as a modulator of synapses regulated by this trace metal
12692258 observed that PrP106-126 is a chemoattractant for monocyte-derived immature but not mature dendritic cells; results suggest transactivation of sphingosine-1-phosphate-dependent cell motility by prion protein
12690204 Kuru imposed strong balancing selection on the Fore, essentially eliminating PRNP 129 homozygotes; worldwide PRNP haplotype diversity and coding allele frequencies suggest strong balancing selection at this locus occurred during evolution of modern humans
12684540 Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene.
12682740 Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Straussler-Scheinker disease.
12679875 Observational study of gene-disease association. (HuGE Navigator)
12679875 Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.
12659837 has different biological properties than linked GPI-anchored protein DAF
12645301 Review. PrPC is a membrane glycoprotein expressed by most tissues and is attached on the cell membrane by a glycosyl-phosphatidylinositol anchor which would be consistent with roles in cell adhesion, ligand uptake, or transmembrane signaling.
12601712 Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator)
12590162 Mutant PrP is associated with neurodegeneration in prion diseases.
12568340 detail the schematic construction of PrP(Sc) monomeric and dimeric models
12547204 NMR structure of the globular domain with residues 121-230 of a variant human prion protein with two disulfide bonds, hPrP(M166C/E221C), shows the same global fold as wild-type hPrP(121-230)
12543108 CD34+ cells from paroxysmal nocturnal hemoglobinuria (PNH) patients are deficient in surface expression of cellular prion protein (PrPc). This may be a suitable system to explore the function of membrane PrP(c) in the hematopoietic system.
12464104 Observational study of gene-disease association. (HuGE Navigator)
12459456 PRNP missense mutations causing familial Creutzfeldt-Jakob disease recapitulate conserved residues in Doppel: a case of molecular mimicry?
12399017 Observational study of gene-disease association. (HuGE Navigator)
12392052 Cellular stress up-regulates both the transcription and translation of PrP through interaction with the HSEs on the PrP gene promoter, resulting in an increase in protein synthesis.
12359724 PrP(C) transfer required the GPI anchor and direct cell to cell contact
12356762 examined the kinetics of folding and unfolding reactions for the recombinant human prion protein C-terminal fragment 90-231; data provide clear evidence for the population of an intermediate on the refolding pathway of the prion protein
12205650 Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
12186633 Cell-surface prion protein interacts with glycosaminoglycans
12161431 PRPc acquires Proteinase K resistance with structural rearrangement, which can be promoted by the presence of a PrP(Sc) template
12084159 PrP was detected on all major human blood cells types except eosinophils, but was not detected as ubiquitously or uniformly on major blood cell types of different animal species.
12070046 Resting paroxysmal nocturnal hemoglobinuria (CD55(-)) platelets were devoid of surface PrPc, but activation of platelets resulted in the surface expression of PrPc.
11986958 All-trans retinoic acid down-regulates prion protein expression independently of granulocyte maturation.
11961239 expressed on endothelial cells and is released during apoptosis on membrane microparticles in human plasma
11840201 Observational study of genotype prevalence. (HuGE Navigator)
11833672 Observational study of genetic testing. (HuGE Navigator)
11787070 colocalized with CBP70 in the nuclear compartment of NB4 cells
11775001 Molecular dynamics simulations of wild-type and point mutation human prion protein at normal and elevated temperature.
11756421 Three novel PrP mutants were examined employing this model system and compared with wild type as well as known mutant PrPs
11704923 sporadic--but not variant--Creutzfeldt-Jakob disease is associated with polymorphisms upstream of PRNP exon 1
11684342 Observational study of gene-disease association. (HuGE Navigator)
11593450 Huntington disease phenocopy is a familial prion disease
11584448 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
11559357 fibrillogenesis of PrP (195-213)
11244488 Observational study of gene-disease association. (HuGE Navigator)
11220690 Observational study of gene-disease association. (HuGE Navigator)
11120925 Observational study of gene-disease association. (HuGE Navigator)
1351748 Human cellular prion protein (CD230) colocalizes with HIV-1 Gag at the plasma membrane and at the virological synapse in infected T cells

AA Sequence

MEHWGQPIPGAGQPWRQPLPTSGRWWLGAASWWWLGAASWWWLGAAPWWWLGTASWWWLGSRRWHPQSVE      1 - 70
QAE                                                                        71 - 73
//

Text Mined References (661)

PMID Year Title
26946358 2016 The prion protein selectively binds to and modulates the content of purinergic receptor P2X4R.
26778001 2016 Cellular prion protein regulates invasion and migration of breast cancer cells through MMP-9 activity.
26710111 2016 Exosomal cellular prion protein drives fibrillization of amyloid beta and counteracts amyloid beta-mediated neurotoxicity.
26683373 2016 Glycosylphosphatidylinositol Anchor Modification Machinery Deficiency Is Responsible for the Formation of Pro-Prion Protein (PrP) in BxPC-3 Protein and Increases Cancer Cell Motility.
26667279 2016 Metabotropic glutamate receptor 5 couples cellular prion protein to intracellular signalling in Alzheimer's disease.
26528810 2016 The pathogenesis of soluble PrP fragments containing A? binding sites.
26368533 2015 Strain-Dependent Effect of Macroautophagy on Abnormally Folded Prion Protein Degradation in Infected Neuronal Cells.
26323476 2015 PrP charge structure encodes interdomain interactions.
26268531 2015 Iatrogenic CJD due to pituitary-derived growth hormone with genetically determined incubation times of up to 40 years.
26159734 2015 The prion protein inhibits monocytic cell migration by stimulating ?1 integrin adhesion and uropod formation.
26157118 2015 Insights into Chronic Wasting Disease and Bovine Spongiform Encephalopathy Species Barriers by Use of Real-Time Conversion.
26107283 2015 Impact of SDS surfactant on the interactions of Cu(2+) ions with the amyloidogenic region of human prion protein.
26104335 2015 Prion protein prevents heavy metals overloading of cells and thus protects them against their toxicity.
26061765 2015 A naturally occurring variant of the human prion protein completely prevents prion disease.
26022925 2015 The influence of PRNP polymorphisms on human prion disease susceptibility: an update.
25998112 2015 Rapidly progressive young-onset dementias: neuropsychiatric aspects.
25983001 2015 Cellular prion protein contributes to LS 174T colon cancer cell carcinogenesis by increasing invasiveness and resistance against doxorubicin-induced apoptosis.
25978088 2015 Crystal Structures of Polymorphic Prion Protein ?1 Peptides Reveal Variable Steric Zipper Conformations.
25922234 2015 Zinc significantly changes the aggregation pathway and the conformation of aggregates of human prion protein.
25853328 2015 Interaction of prion protein with acetylcholinesterase: potential pathobiological implications in prion diseases.
25643046 2015 Plasma soluble prion protein, a potential biomarker for sport-related concussions: a pilot study.
25572400 2015 Cyclin-dependent kinase 5 phosphorylation of familial prion protein mutants exacerbates conversion into amyloid structure.
25522698 2015 Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
25450391 2014 Mutant PrPCJD prevails over wild-type PrPCJD in the brain of V210I and R208H genetic Creutzfeldt-Jakob disease patients.
25435015 2015 Baicalein prevents human prion protein-induced neuronal cell death by regulating JNK activation.
25281825 2014 Methionine oxidation accelerates the aggregation and enhances the neurotoxicity of the D178N variant of the human prion protein.
25280631 2014 Uptake and degradation of protease-sensitive and -resistant forms of abnormal human prion protein aggregates by human astrocytes.
25279981 2014 Ascertainment bias causes false signal of anticipation in genetic prion disease.
25239885 2014 Relationships between cobalamin, epidermal growth factor, and normal prions in the myelin maintenance of central nervous system.
25220284 2015 Reduced cerebral blood flow in genetic prion disease with PRNP D178N-129M mutation: an arterial spin labeling MRI study.
25027605 2015 Molecular dynamics study of the dominant-negative E219K polymorphism in human prion protein.
24970228 2014 Prion fragment peptides are digested with membrane type matrix metalloproteinases and acquire enzyme resistance through Cu²?-binding.
24965601 2015 Role of PrP(C) Expression in Tau Protein Levels and Phosphorylation in Alzheimer's Disease Evolution.
24958194 2014 Nonsense mutation in PRNP associated with clinical Alzheimer's disease.
24945274 2014 Contribution of specific residues of the ?-solenoid fold to HET-s prion function, amyloid structure and stability.
24857020 2014 Distinct tau prion strains propagate in cells and mice and define different tauopathies.
24838726 2014 Clinical features of genetic Creutzfeldt-Jakob disease with V180I mutation in the prion protein gene.
24714645 2014 Ubiquitin ligase gp78 targets unglycosylated prion protein PrP for ubiquitylation and degradation.
24706505 2014 Overexpression of PrPc, combined with MGr1-Ag/37LRP, is predictive of poor prognosis in gastric cancer.
24620982 2014 Epidemiological genetics and meta-analysis of a polymorphism at codon 129 of the PRNP gene in Alzheimer's disease in Brazil.
24606939 2014 Structural and dynamic properties of the human prion protein.
24519981 2014 High molecular mass assemblies of amyloid-? oligomers bind prion protein in patients with Alzheimer's disease.
24498083 2014 ?-hairpin-mediated formation of structurally distinct multimers of neurotoxic prion peptides.
24493558 2014 Preimplantation genetic diagnosis (PGD) for genetic prion disorder due to F198S mutation in the PRNP gene.
24398683 2014 Gerstmann-Sträussler-Scheinker disease and "anchorless prion protein" mice share prion conformational properties diverging from sporadic Creutzfeldt-Jakob disease.
24390569 2014 Anchorless 23-230 PrPC interactomics for elucidation of PrPC protective role.
24360565 2014 Association of prion protein genotype and scrapie prion protein type with cellular prion protein charge isoform profiles in cerebrospinal fluid of humans with sporadic or familial prion diseases.
24338015 2014 Conformational stability of mammalian prion protein amyloid fibrils is dictated by a packing polymorphism within the core region.
24329154 2014 The inhibition of functional expression of calcium channels by prion protein demonstrates competition with ?2? for GPI-anchoring pathways.
24225951 2013 The prion protein modulates A-type K+ currents mediated by Kv4.2 complexes through dipeptidyl aminopeptidase-like protein 6.
24224623 2013 A novel prion disease associated with diarrhea and autonomic neuropathy.
24145555 2013 BECN1/Beclin 1 is recruited into lipid rafts by prion to activate autophagy in response to amyloid ? 42.
24121542 Impact of methionine oxidation as an initial event on the pathway of human prion protein conversion.
24112521 2014 The fate of PrP GPI-anchor signal peptide is modulated by P238S pathogenic mutation.
24091711 2014 Prnp gene and cerebellum volume in patients with refractory mesial temporal lobe epilepsy.
24086135 2013 Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein.
24047819 PrP mRNA and protein expression in brain and PrP(c) in CSF in Creutzfeldt-Jakob disease MM1 and VV2.
24028865 2014 Impact of the cellular prion protein on amyloid-? and 3PO-tau processing.
24012003 2013 Metabotropic glutamate receptor 5 is a coreceptor for Alzheimer a? oligomer bound to cellular prion protein.
23974118 2013 Co-existence of distinct prion types enables conformational evolution of human PrPSc by competitive selection.
23967259 2013 IGF-1-induced enhancement of PRNP expression depends on the negative regulation of transcription factor FOXO3a.
23959875 2013 Profoundly different prion diseases in knock-in mice carrying single PrP codon substitutions associated with human diseases.
23911565 2013 Inhibition of human prion neuropeptide PrP106-126 aggregation by hexacoordinated ruthenium complexes.
23907583 2013 Characterizing affinity epitopes between prion protein and ?-amyloid using an epitope mapping immunoassay.
23857619 2013 Codon 129 polymorphism of prion protein gene in is not a risk factor for Alzheimer's disease.
23857314 Vitamin D 2 interacts with Human PrP(c) (90-231) and breaks PrP(c) oligomerization in vitro.
23843953 2013 Re-assessment of PrP(Sc) distribution in sporadic and variant CJD.
23825952 2013 Critical significance of the region between Helix 1 and 2 for efficient dominant-negative inhibition by conversion-incompetent prion protein.
23792955 2013 Characterization of variant Creutzfeldt-Jakob disease prions in prion protein-humanized mice carrying distinct codon 129 genotypes.
23787697 Binding of bovine T194A PrP(C) by PrP(Sc)-specific antibodies: potential implications for immunotherapy of familial prion diseases.
23785217 2013 Lack of prion infectivity in fixed heart tissue from patients with Creutzfeldt-Jakob disease or amyloid heart disease.
23764834 Neuronal zinc regulation and the prion protein.
23638794 2013 PrP(C) regulates epidermal growth factor receptor function and cell shape dynamics in Neuro2a cells.
23637596 2013 Defining the conformational features of anchorless, poorly neuroinvasive prions.
23627023 2012 [Study on the correlation between membrane protein Flotillin-1 and PrPc endocytosis].
23625312 2013 Flotillin-1 mediates PrPc endocytosis in the cultured cells during Cu²? stimulation through molecular interaction.
23614720 2013 The cell biology of prion-like spread of protein aggregates: mechanisms and implication in neurodegeneration.
23577068 2013 Prion protein is decreased in Alzheimer's brain and inversely correlates with BACE1 activity, amyloid-? levels and Braak stage.
23565236 2013 Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene.
23467330 2013 Report about four novel mutations in the prion protein gene.
23449776 2013 Prion infectivity in the spleen of a PRNP heterozygous individual with subclinical variant Creutzfeldt-Jakob disease.
23436635 2013 Atypical parkinsonism due to a D202N Gerstmann-Sträussler-Scheinker prion protein mutation: first in vivo diagnosed case.
23406923 The prion protein M129V polymorphism: longevity and cognitive impairment among Polish centenarians.
23406905 Conserved amyloid core structure of stop mutants of the human prion protein.
23405858 2013 Prion protein gene M129V polymorphism and variability in age at migraine onset.
23399523 2013 The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: an update by meta-analysis.
23392670 2013 A mutant prion protein sensitizes neurons to glutamate-induced excitotoxicity.
23386614 2013 Prion protein-mediated toxicity of amyloid-? oligomers requires lipid rafts and the transmembrane LRP1.
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23324596 The neurodegeneration in Alzheimer disease and the prion protein.
23319218 Hereditary form of prion disease in Poland.
23283514 2013 PrP octarepeats region determined the interaction with caveolin-1 and phosphorylation of caveolin-1 and Fyn.
23276223 2013 Molecular dynamic study of human prion protein upon D178N mutation: new perspective to H-bonds, salt bridges and the critical amino acids.
23256626 2013 Helices 2 and 3 are the initiation sites in the PrP(C) ? PrP(SC) transition.
23236467 2012 Amyloid beta precursor protein and prion protein have a conserved interaction affecting cell adhesion and CNS development.
23225390 2012 Impact of aging on the progression of neuropathy after liver transplantation in transthyretin Val30Met amyloidosis.
23225009 2012 Experimental inhibition of fibrillogenesis and neurotoxicity by amyloid-beta (A?) and other disease-related peptides/proteins by plant extracts and herbal compounds.
23225001 2012 Prion protein aggregation and fibrillogenesis in vitro.
23209282 2013 Burial of the polymorphic residue 129 in amyloid fibrils of prion stop mutants.
23175838 2012 The complex PrP(c)-Fyn couples human oligomeric A? with pathological tau changes in Alzheimer's disease.
23131565 2012 Transcriptional regulation of specific protein 1 (SP1) by hypoxia-inducible factor 1 alpha (HIF-1?) leads to PRNP expression and neuroprotection from toxic prion peptide.
23115236 2012 The heat shock response is modulated by and interferes with toxic effects of scrapie prion protein and amyloid ?.
23090399 2012 Structural studies on the folded domain of the human prion protein bound to the Fab fragment of the antibody POM1.
23022479 2013 Binding of methylene blue to a surface cleft inhibits the oligomerization and fibrillization of prion protein.
22987042 Amyloid-? induced signaling by cellular prion protein and Fyn kinase in Alzheimer disease.
22978166 2012 [A redox process of ethanethiol group increases formation of beta-sheet structure and amyloid fibrils of wild type human prion protein].
22972305 2012 Cellular prion protein accelerates colorectal cancer metastasis via the Fyn-SP1-SATB1 axis.
22967749 2012 Association of prion protein with cognitive functioning in humans.
22930754 2012 The prion protein preference of sporadic Creutzfeldt-Jakob disease subtypes.
22918447 Induction of ligand-specific PrP (C) signaling in human neuronal cells.
22915585 2012 Soluble prion protein inhibits amyloid-? (A?) fibrillization and toxicity.
22895089 Clustering of sialylated glycosylphosphatidylinositol anchors mediates PrP-induced activation of cytoplasmic phospholipase A 2 and synapse damage.
22895088 Association between the PRNP 1368 polymorphism and the occurrence of sporadic Creutzfeldt-Jakob disease.
22876179 2012 Small protease sensitive oligomers of PrPSc in distinct human prions determine conversion rate of PrP(C).
22874673 The P's and Q's of cellular PrP-A? interactions.
22861352 2013 Prion protein expression and functional importance in developmental angiogenesis: role in oxidative stress and copper homeostasis.
22860629 2013 The cellular form of the prion protein is involved in controlling cell cycle dynamics, self-renewal, and the fate of human embryonic stem cell differentiation.
22842913 Trafficking of PrPc to mitochondrial raft-like microdomains during cell apoptosis.
22820080 Association of prion protein expression with pancreatic adenocarcinoma survival in the SEER residual tissue repository.
22796214 2012 Prion protein expression alters APP cleavage without interaction with BACE-1.
22791135 2012 Thermodynamic and spectroscopic investigation on the role of Met residues in Cu(II) binding to the non-octarepeat site of the human prion protein.
22788868 2012 Effects of the pathological Q212P mutation on human prion protein non-octarepeat copper-binding site.
22763467 2013 A novel mutation I215V in the PRNP gene associated with Creutzfeldt-Jakob and Alzheimer's diseases in three patients with divergent clinical phenotypes.
22685557 2012 Protein disulfide isomerase regulates endoplasmic reticulum stress and the apoptotic process during prion infection and PrP mutant-induced cytotoxicity.
22676969 2012 Structural basis for the protective effect of the human prion protein carrying the dominant-negative E219K polymorphism.
22675855 2012 Characterization of movement disorders in patients with familial Creutzfeldt-Jakob disease carrying the E200K mutation.
22669942 2012 Multiple substitutions of methionine 129 in human prion protein reveal its importance in the amyloid fibrillation pathway.
22658899 2012 Three cases of Creutzfeldt-Jakob disease with prion protein gene codon180 mutation presenting with pathological laughing and crying.
22615124 2012 The catalytic redox activity of prion protein-Cu(II) is controlled by metal exchange with the Zn(II) -thiolate clusters of Zn(7) metallothionein-3.
22612156 2013 MRS in early and presymptomatic carriers of a novel octapeptide repeat insertion in the prion protein gene.
22584955 2012 Codon 200 mutation of the prion gene: genotype-phenotype correlations.
22561193 Genotype patterns and characteristics of PRNP in the Korean population.
22558368 2012 Altered Prion protein expression pattern in CSF as a biomarker for Creutzfeldt-Jakob disease.
22511770 2012 Integrity of helix 2-helix 3 domain of the PrP protein is not mandatory for prion replication.
22505365 2012 Association of the PRNP regulatory region polymorphisms with the occurrence of sporadic Creutzfeldt-Jakob disease.
22484317 2012 Human prion protein binds Argonaute and promotes accumulation of microRNA effector complexes.
22411239 2012 Gerstmann-Sträussler-Scheinker disease.
22384235 2012 Allelic origin of protease-sensitive and protease-resistant prion protein isoforms in Gerstmann-Sträussler-Scheinker disease with the P102L mutation.
22363722 2012 Cellular prion protein expression is not regulated by the Alzheimer's amyloid precursor protein intracellular domain.
22356913 2012 Direct evidence of generation and accumulation of ?-sheet-rich prion protein in scrapie-infected neuroblastoma cells with human IgG1 antibody specific for ?-form prion protein.
22318125 2012 Intraneuronal immunoreactivity for the prion protein distinguishes a subset of E200K genetic from sporadic Creutzfeldt-Jakob Disease.
22285492 2012 Novel assay with fluorescence-labelled PrP peptides for differentiating L-type atypical and classical BSEs, and scrapie.
22252492 2011 Multiple effects of the cellular prion protein on tooth development.
22210626 2012 Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
22184125 2012 ?-Secretase-derived fragment of cellular prion, N1, protects against monomeric and oligomeric amyloid ? (A?)-associated cell death.
22155634 2012 Influence of the pathogenic mutations T188K/R/A on the structural stability and misfolding of human prion protein: insight from molecular dynamics simulations.
22137330 2012 Genome-wide study links MTMR7 gene to variant Creutzfeldt-Jakob risk.
22129783 2012 FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia.
22128151 2012 Interactions between the conserved hydrophobic region of the prion protein and dodecylphosphocholine micelles.
22046086 2011 Dynamic changes and surveillance function of prion protein expression in gastric cancer drug resistance.
22036844 2012 Hypoxia-inducible factor-1 ? regulates prion protein expression to protect against neuron cell damage.
22032174 2011 Long-time scale fluctuations of human prion protein determined by restrained MD simulations.
22031292 2011 Recruitment of cellular prion protein to mitochondrial raft-like microdomains contributes to apoptosis execution.
22028931 2011 Instability of the octarepeat region of the human prion protein gene.
22002245 2011 Structural polymorphism in amyloids: new insights from studies with Y145Stop prion protein fibrils.
21983261 2012 Creutzfeldt-Jakob disease with the M232R mutation in the prion protein gene in two cases showing different disease courses: a clinicopathological study.
21980981 2012 Resistance against tumour necrosis factor ? apoptosis by the cellular prion protein is cell-specific for oral, colon and kidney cancer cell lines.
21980292 2011 Strain specific resistance to murine scrapie associated with a naturally occurring human prion protein polymorphism at residue 171.
21957261 2011 A nine amino acid domain is essential for mutant prion protein toxicity.
21957246 2011 Spongiform encephalopathy in transgenic mice expressing a point mutation in the ?2-?2 loop of the prion protein.
21943430 2011 Fibril formation of the rabbit/human/bovine prion proteins.
21920025 2011 Leu138 in bovine prion peptide fibrils is involved in seeding discrimination related to codon 129 M/V polymorphism in the prion peptide seeding experiment.
21911696 2011 Clinical characterization of a kindred with a novel 12-octapeptide repeat insertion in the prion protein gene.
21900252 2011 Copper alters aggregation behavior of prion protein and induces novel interactions between its N- and C-terminal regions.
21875156 2011 Prevalent mutations of human prion protein: a molecular modeling and molecular dynamics study.
21857997 2011 Molecular interaction of TPPP with PrP antagonized the CytoPrP-induced disruption of microtubule structures and cytotoxicity.
21841253 2011 Altered intracellular distribution of PrPC and impairment of proteasome activity in tau overexpressing cortical neurons.
21839748 2011 Toward the molecular basis of inherited prion diseases: NMR structure of the human prion protein with V210I mutation.
21833705 2012 The EEG in E200K familial CJD: relation to MRI patterns.
21827207 2011 Intermolecular alignment in Y145Stop human prion protein amyloid fibrils probed by solid-state NMR spectroscopy.
21804240 2011 Metal-binding ability of human prion protein fragment peptides analyzed by column switch HPLC.
21799773 2011 Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases.
21795680 2011 Prion protein interacts with BACE1 protein and differentially regulates its activity toward wild type and Swedish mutant amyloid precursor protein.
21763357 2011 Tau inhibits tubulin oligomerization induced by prion protein.
21743439 2011 Misfolded PrP impairs the UPS by interaction with the 20S proteasome and inhibition of substrate entry.
21689534 2011 Molecular origin of Gerstmann-Sträussler-Scheinker syndrome: insight from computer simulation of an amyloidogenic prion peptide.
21654203 Unaltered prion protein expression in Alzheimer disease patients.
21631281 2011 Comparison of mRNA expression patterns of class B scavenger receptors in BV2 microglia upon exposure to amyloidogenic fragments of beta-amyloid and prion proteins.
21616973 2011 Inherited prion disease with 4-octapeptide repeat insertion: disease requires the interaction of multiple genetic risk factors.
21600043 2011 A polymorphism in the regulatory region of PRNP is associated with increased risk of sporadic Creutzfeldt-Jakob disease.
21597335 A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP.
21593310 2011 Alzheimer's disease brain-derived amyloid-?-mediated inhibition of LTP in vivo is prevented by immunotargeting cellular prion protein.
21559407 2011 Expression of mutant or cytosolic PrP in transgenic mice and cells is not associated with endoplasmic reticulum stress or proteasome dysfunction.
21552571 2011 Dynamic diagnosis of familial prion diseases supports the ?2-?2 loop as a universal interference target.
21508834 2011 Experience with preventive genetic testing of corneal donors in slovakia.
21478678 2011 Silencing of cellular prion protein (PrPC) expression by DNA-antisense oligonucleotides induces autophagy-dependent cell death in glioma cells.
21478263 2011 An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein.
21453198 2011 Prion protein expression and functional importance in skeletal muscle.
21451573 2011 Human PrP90-231-induced cell death is associated with intracellular accumulation of insoluble and protease-resistant macroaggregates and lysosomal dysfunction.
21445238 2011 Sheep and goat BSE propagate more efficiently than cattle BSE in human PrP transgenic mice.
21439722 2011 Resistance against apoptosis by the cellular prion protein is dependent on its glycosylation status in oral HSC-2 and colon LS 174T cancer cells.
21385869 2011 An N-terminal polybasic domain and cell surface localization are required for mutant prion protein toxicity.
21356381 2011 Co-occurrence of types 1 and 2 PrP(res) in sporadic Creutzfeldt-Jakob disease MM1.
21338080 2011 Normal modes of prion proteins: from native to infectious particle.
21323366 2011 Atomic structures suggest determinants of transmission barriers in mammalian prion disease.
21320996 2011 No association between genetic polymorphism at codon 129 of the prion protein gene and primary progressive multiple sclerosis.
21301993 2011 A novel PrP partner HS-1 associated protein X-1 (HAX-1) protected the cultured cells against the challenge of H?O?.
21298055 2011 Familial CJD associated PrP mutants within transmembrane region induced Ctm-PrP retention in ER and triggered apoptosis by ER stress in SH-SY5Y cells.
21297264 2011 PSEN1 and PRNP gene mutations: co-occurrence makes onset very early in a family with FTD phenotype.
21296677 2011 Heat shock protein 104 inhibited the fibrillization of prion peptide 106-126 and disassembled prion peptide 106-126 fibrils in vitro.
21293298 2011 Comprehensive neuropathologic analysis of genetic prion disease associated with the E196K mutation in PRNP reveals phenotypic heterogeneity.
21265952 2011 Cellular prion protein promotes glucose uptake through the Fyn-HIF-2?-Glut1 pathway to support colorectal cancer cell survival.
21257747 2011 Conserved stress-protective activity between prion protein and Shadoo.
21232818 2011 Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings.
21212268 2011 Recovery of small infectious PrP(res) aggregates from prion-infected cultured cells.
21209079 2011 Generation of a new form of human PrP(Sc) in vitro by interspecies transmission from cervid prions.
21193246 2012 Duplication of amyloid precursor protein (APP), but not prion protein (PRNP) gene is a significant cause of early onset dementia in a large UK series.
21119307 2011 Reticulon 3 attenuates the clearance of cytosolic prion aggregates via inhibiting autophagy.
21116546 2011 Insights into the thermodynamics of copper association with amyloid-?, ?-synuclein and prion proteins.
21107851 2011 Phenotypic variability of sporadic human prion disease and its molecular basis: past, present, and future.
21107135 2010 Pathologic evidence that the T188R mutation in PRNP is associated with prion disease.
21094273 2011 High hydrophobic amino acid exposure is responsible of the neurotoxic effects induced by E200K or D202N disease-related mutations of the human prion protein.
21071944 2010 D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease.
21062360 2011 Accumulation of cellular prion protein within dystrophic neurites of amyloid plaques in the Alzheimer's disease brain.
21058033 2011 Molecular biology and pathology of prion strains in sporadic human prion diseases.
21029243 2011 Correlation of polydispersed prion protein and characteristic pathology in the thalamus in variant Creutzfeldt-Jakob disease: implication of small oligomeric species.
20970434 2011 Comparison studies of the structural stability of rabbit prion protein with human and mouse prion proteins.
20949975 2010 Diverse effects on the native ?-sheet of the human prion protein due to disease-associated mutations.
20932979 2010 Pathogenic mutations in the hydrophobic core of the human prion protein can promote structural instability and misfolding.
20930299 2010 Prion protein is reduced in aging and in sporadic but not in familial Alzheimer's disease.
20923664 2010 Influence of pH on the human prion protein: insights into the early steps of misfolding.
20919751 2010 Exposure of hydrophobic core in human prion protein pathogenic mutant H187R.
20880607 2012 Exploration of 16 candidate genes identifies the association of IDE with Alzheimer's disease in Han Chinese.
20870462 2010 Prion-like aggregates: infectious agents in human disease.
20861579 2010 Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India.
20838930 2011 Cytosolic PrP induces apoptosis of cell by disrupting microtubule assembly.
20816195 2010 Analyses of shared genetic factors between asthma and obesity in children.
20804519 2011 Interactions of the prion peptide (PrP 106-126) with brain capillary endothelial cells: coordinated cell killing and remodeling of intercellular junctions.
20799315 2010 Divergent heparin-induced fibrillation pathways of a prion amyloidogenic determinant.
20724601 2010 PrPC, the cellular isoform of the human prion protein, is a novel biomarker of HIV-associated neurocognitive impairment and mediates neuroinflammation.
20718410 2010 The H187R mutation of the human prion protein induces conversion of recombinant prion protein to the PrP(Sc)-like form.
20711061 Prion protein codon 129 polymorphism modifies age at onset of frontotemporal dementia with the C.709-1G>A progranulin mutation.
20694796 2011 Molecular pathology of human prion disease.
20685658 2010 Crystallographic studies of prion protein (PrP) segments suggest how structural changes encoded by polymorphism at residue 129 modulate susceptibility to human prion disease.
20661422 2010 NMR structure of the human prion protein with the pathological Q212P mutation reveals unique structural features.
20650901 2010 Pro-prion binds filamin A, facilitating its interaction with integrin beta1, and contributes to melanomagenesis.
20625387 2010 Oxidation of Helix-3 methionines precedes the formation of PK resistant PrP.
20613639 2010 A novel PRNP Y218N mutation in Gerstmann-Sträussler-Scheinker disease with neurofibrillary degeneration.
20593190 2011 Genetic Creutzfeldt-Jakob disease associated with the E200K mutation: characterization of a complex proteinopathy.
20592456 2010 Lack of association between PRNP M129V polymorphism and multiple sclerosis, mild cognitive impairment, alcoholism and schizophrenia in a Korean population.
20583902 2010 Polymorphisms of the prion protein gene (PRNP) in a Serbian population.
20583301 2010 PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit.
20576610 2010 Interaction between human prion protein and amyloid-beta (Abeta) oligomers: role OF N-terminal residues.
20574532 2010 Intermediate phenotypes identify divergent pathways to Alzheimer's disease.
20573963 2010 Neurotoxic mutants of the prion protein induce spontaneous ionic currents in cultured cells.
20564346 2010 Prion protein expression and the M129V polymorphism of the PRNP gene in patients with colorectal cancer.
20564047 2010 Copper (II) promotes the formation of soluble neurotoxic PrP oligomers in acidic environment.
20562404 2010 Elevated phosphorylated tau pT-181 in a possible PRNP codon 129 MV vCJD case.
20552563 2010 Interaction of the prion protein fragment PrP 185-206 with biological membranes: effect on membrane permeability.
20547859 2010 Defining sporadic Creutzfeldt-Jakob disease strains and their transmission properties.
20547212 2010 Cellular prion protein overexpression disturbs cellular homeostasis in SH-SY5Y neuroblastoma cells but does not alter p53 expression: a proteomic study.
20541558 2010 The unfolded state of the murine prion protein and properties of single-point mutants related to human prion diseases.
20529115 2010 Codon 129 polymorphism and the E200K mutation do not affect the cellular prion protein isoform composition in the cerebrospinal fluid from patients with Creutzfeldt-Jakob disease.
20526696 2011 Human prion protein mutants with deleted and inserted octarepeats undergo different pathways to trigger cell apoptosis.
20526338 2010 Genome-wide meta-analyses identifies seven loci associated with platelet aggregation in response to agonists.
20515747 2010 Interactions between PrP(c) and other ligands with the 37-kDa/67-kDa laminin receptor.
20515743 2010 Copper, endoproteolytic processing of the prion protein and cell signalling.
20515742 2010 Cellular roles of the prion protein in association with reggie/flotillin microdomains.
20506117 2010 Calnexin inhibits thermal aggregation and neurotoxicity of prion protein.
20487506 2010 A whole genome association study of mother-to-child transmission of HIV in Malawi.
20473510 2011 Tau, prions and A?: the triad of neurodegeneration.
20465257 2010 Structural properties and dynamic behavior of nonfibrillar oligomers formed by PrP(106-126).
20453509 2010 Clinical features of rapidly progressive Alzheimer's disease.
20422111 2010 Emergence and natural selection of drug-resistant prions.
20413850 2010 Systematic analysis of candidate genes for Alzheimer's disease in a French, genome-wide association study.
20392961 2010 Neuron dysfunction is induced by prion protein with an insertional mutation via a Fyn kinase and reversed by sirtuin activation in Caenorhabditis elegans.
20198483 2011 A novel seven-octapeptide repeat insertion in the prion protein gene (PRNP) in a Dutch pedigree with Gerstmann-Sträussler-Scheinker disease phenotype: comparison with similar cases from the literature.
20195363 2010 The octarepeat region of the prion protein is conformationally altered in PrP(Sc).
20175205 2010 Ionic mechanisms of action of prion protein fragment PrP(106-126) in rat basal forebrain neurons.
20145049 2010 Pharmacological prion protein silencing accelerates central nervous system autoimmune disease via T cell receptor signalling.
20109837 2009 Variant CJD in an individual heterozygous for PRNP codon 129.
20105449 2010 No evidence for prion protein gene locus multiplication in Creutzfeldt-Jakob disease.
20077484 2010 Rhythmic pupillary oscillation in Creutzfeldt-Jakob disease associated with the Glu/Lys mutation of prion protein codon 200.
20049591 2010 Highly polar environments catalyze the unfolding of PrP C helix 1.
20036833 2010 Aptamers to explore prion protein interactions with nucleic acids.
20036811 2010 PrP interactions with nucleic acids and glycosaminoglycans in function and disease.
20035629 2009 PRNP variation in UK sporadic and variant Creutzfeldt Jakob disease highlights genetic risk factors and a novel non-synonymous polymorphism.
20028338 2010 Creutzfeldt-Jakob disease with PRNP G114V mutation in a Chinese family.
20005032 2010 Rare E196K mutation in the PRNP gene of a patient exhibiting behavioral abnormalities.
20004419 2010 [M129V PRNP gene polymorphism in Castilla y León shows a similar distribution to other Spanish regions and other European countries].
19996123 2010 Mutant prion protein expression is associated with an alteration of the Rab GDP dissociation inhibitor alpha (GDI)/Rab11 pathway.
19927125 2010 Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
19923577 2009 A novel protective prion protein variant that colocalizes with kuru exposure.
19917818 2009 Inherited Creutzfeldt-Jakob disease in a Dutch patient with a novel five octapeptide repeat insertion and unusual cerebellar morphology.
19911184 2010 Prion protein amyloidosis with divergent phenotype associated with two novel nonsense mutations in PRNP.
19910028 2010 A genome-wide association study on African-ancestry populations for asthma.
19889475 2011 No replication of genetic association between candidate polymorphisms and Alzheimer's disease.
19882604 2009 Unfolded-state structure and dynamics influence the fibril formation of human prion protein.
19822779 2009 Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.
19807656 2009 Spatial correlations between the vacuolation, prion protein (PrPsc) deposits and the cerebral blood vessels in sporadic Creutzfeldt-Jakob disease.
19786843 The role of the prion protein membrane anchor in prion infection.
19734292 2009 Co-existence of scrapie prion protein types 1 and 2 in sporadic Creutzfeldt-Jakob disease: its effect on the phenotype and prion-type characteristics.
19728151 2010 Transient expressions of doppel and its structural analog prionDelta32-121 in SH-SY5Y cells caused cytotoxicity possibly by triggering similar apoptosis pathway.
19725833 2010 PET of brain prion protein amyloid in Gerstmann-Sträussler-Scheinker disease.
19710507 2009 Aggregation and amyloid fibril formation induced by chemical dimerization of recombinant prion protein in physiological-like conditions.
19709627 2009 Spontaneous generation of prion infectivity in fatal familial insomnia knockin mice.
19698114 2009 Mutations at codons 178, 200-129, and 232 contributed to the inherited prion diseases in Korean patients.
19697238 2009 Efficient knockdown of human prnp mRNA expression levels using hybrid hammerhead ribozymes.
19696976 2010 Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.
19690385 2009 Binding of pro-prion to filamin A disrupts cytoskeleton and correlates with poor prognosis in pancreatic cancer.
19675240 2009 A New Transgenic Mouse Model of Gerstmann-Straussler-Scheinker Syndrome Caused by the A117V Mutation of PRNP.
19643043 2009 Cytosolic prion protein induces apoptosis in human neuronal cell SH-SY5Y via mitochondrial disruption pathway.
19607920 2009 Differential solubility of prions is associated in manifold phenotypes.
19606064 2009 Loss of cerebellar granule neurons is associated with punctate but not with large focal deposits of prion protein in Creutzfeldt-Jakob disease.
19602567 2009 The consequences of pathogenic mutations to the human prion protein.
19601795 2009 Cerebral amyloid angiopathy: a common cause of cerebral hemorrhage.
19597535 2009 PrPC-related signal transduction is influenced by copper, membrane integrity and the alpha cleavage site.
19587281 2009 Phosphorylation of prion protein at serine 43 induces prion protein conformational change.
19583442 2009 Binding of TCA to the prion protein: mechanism, implication for therapy, and application as probe for complex formation of bio-macromolecules.
19581412 2009 Quantitative proteomics identifies a Dab2/integrin module regulating cell migration.
19558790 2009 Glycosylation modification of human prion protein provokes apoptosis in HeLa cells in vitro.
19556894 The cellular prion protein and its role in Alzheimer disease.
19542614 2009 Total prion protein levels in the cerebrospinal fluid are reduced in patients with various neurological disorders.
19534429 2009 [Polymorphism of the prion protein PRNP gene and risk of multiple sclerosis development in ethnic Russians from Bashkortostan].
19524515 2009 Functional depletion of mahogunin by cytosolically exposed prion protein contributes to neurodegeneration.
19495414 2009 Prion protein expression and processing in human mononuclear cells: the impact of the codon 129 prion gene polymorphism.
19477226 2009 Characterization of a specific interaction between ADAM23 and cellular prion protein.
19476383 2009 Morphology and secondary structure of stable beta-oligomers formed by amyloid peptide PrP(106-126).
19416900 2009 Design of anti- and pro-aggregation variants to assess the effects of methionine oxidation in human prion protein.
19369250 2009 Conformational properties of beta-PrP.
19363267 2009 Earlier onset of Alzheimer's disease: risk polymorphisms within PRNP, PRND, CYP46, and APOE genes.
19351416 2009 Lack of association between PRNP 1368 polymorphism and Alzheimer's disease or vascular dementia.
19327369 2009 Neuroglobin and prion cellular localization: investigation of a potential interaction.
19321423 2009 Folding kinetics of the human prion protein probed by temperature jump.
19278656 2009 Core structure of amyloid fibrils formed by residues 106-126 of the human prion protein.
19249347 2009 UV-light-induced conversion and aggregation of prion proteins.
19228673 2009 Prion mutation D178N with highly variable disease onset and phenotype.
19226372 2009 Characterization of cell-surface prion protein relative to its recombinant analogue: insights from molecular dynamics simulations of diglycosylated, membrane-bound human prion protein.
19218199 2009 Absence of spontaneous disease and comparative prion susceptibility of transgenic mice expressing mutant human prion proteins.
19212444 2009 Prion protein modulates cellular iron uptake: a novel function with implications for prion disease pathogenesis.
19210573 Function of PrPC (1-OPRD) in biological activities of gastric cancer cell lines.
19204171 2009 Genetic polymorphism at codon 129 of the prion protein gene is not associated with multiple sclerosis.
19196429 2009 Helix 3 is necessary and sufficient for prion protein's anti-Bax function.
19172188 2009 Methionine sulfoxides on prion protein Helix-3 switch on the alpha-fold destabilization required for conversion.
19164910 Interplays between covalent modifications in the endoplasmic reticulum increase conformational diversity in nascent prion protein.
19158507 Reversible monomer-oligomer transition in human prion protein.
19156168 2009 Pharmacogenetics of antipsychotic response in the CATIE trial: a candidate gene analysis.
19140013 2009 Can copper binding to the prion protein generate a misfolded form of the protein?
19129193 2009 Identification of adjacent binding sites for the YY1 and E4BP4 transcription factors in the ovine PrP (Prion) gene promoter.
19099191 2009 The role of P-glycoprotein/cellular prion protein interaction in multidrug-resistant breast cancer cells treated with paclitaxel.
19081515 2009 Genetic risk factors for variant Creutzfeldt-Jakob disease: a genome-wide association study.
19077115 2009 Replication study of candidate genes for cognitive abilities: the Lothian Birth Cohort 1936.
19074151 2009 Human prion protein (PrP) 219K is converted to PrPSc but shows heterozygous inhibition in variant Creutzfeldt-Jakob disease infection.
19064990 2009 ATM-mediated transcriptional elevation of prion in response to copper-induced oxidative stress.
19056867 2009 Large-scale proteomics and phosphoproteomics of urinary exosomes.
19056496 2009 alpha-cleavage of the prion protein occurs in a late compartment of the secretory pathway and is independent of lipid rafts.
19051123 2009 The role of stress and anxiety in the onset of familial Creutzfeldt-Jakob Disease (CJD): review.
19035579 2009 A thermodynamic approach to the conformational preferences of the 180-195 segment derived from the human prion protein alpha2-helix.
19030774 2008 Atypical frontotemporal dementia as a new clinical phenotype of Gerstmann-Straussler-Scheinker disease with the PrP-P102L mutation. Description of a previously unreported Italian family.
19010951 2008 A novel insertional mutation in the prion protein gene: clinical and bio-molecular findings.
19008948 2008 Resistance of bovine spongiform encephalopathy (BSE) prions to inactivation.
18990686 2009 Regulation of prion gene expression by transcription factors SP1 and metal transcription factor-1.
18959744 2008 Ligand binding promotes prion protein aggregation--role of the octapeptide repeats.
18955686 2008 A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation.
18930924 2008 Prion protein amyloid formation under native-like conditions involves refolding of the C-terminal alpha-helical domain.
18830724 2009 Assessment of Alzheimer's disease case-control associations using family-based methods.
18810471 2008 Increased PrPC expression correlates with endoglin (CD105) positive microvessels in advanced carotid lesions.
18786636 2008 Human cellular prion protein interacts directly with clusterin protein.
18722532 2008 Isoform-specific contribution of protein kinase C to prion processing.
18720902 2008 Population distribution of the methionine allele at the PRNP codon 129 polymorphism in Europe and the Middle East.
18706660 2008 Atypical presentation of Creutzfeldt-Jakob disease: the first Italian case associated with E196K mutation in the PRNP gene.
18691383 2008 Green tea extracts interfere with the stress-protective activity of PrP and the formation of PrP.
18665216 2008 Regulating factors of PrP glycosylation in Creutzfeldt-Jakob disease--implications for the dissemination and the diagnosis of human prion strains.
18638557 2008 Hippocampal bursts caused by changes in NMDA receptor-dependent excitation in a mouse model of variant CJD.
18619462 2008 Conformational plasticity of the Gerstmann-Sträussler-Scheinker disease peptide as indicated by its multiple aggregation pathways.
18597782 2008 Inter-oligomer interactions of the human prion protein are modulated by the polymorphism at codon 129.
18563793 2008 Structural characterization of a neurotoxic threonine-rich peptide corresponding to the human prion protein alpha 2-helical 180-195 segment, and comparison with full-length alpha 2-helix-derived peptides.
18549399 2008 M129V polymorphism in the prion protein gene is not associated with mesial temporal lobe epilepsy in a Han Chinese population.
18549395 2008 PRNP 1368 polymorphism is not associated with sporadic Creutzfeldt-Jakob disease in the Korean population.
18539633 2008 Nanomechanical properties of human prion protein amyloid as probed by force spectroscopy.
18508914 2008 Retrotranslocation of prion proteins from the endoplasmic reticulum by preventing GPI signal transamidation.
18505059 POLR2F, ATP6V0A1 and PRNP expression in colorectal cancer: new molecules with prognostic significance?
18482256 2009 Protein microarray analysis identifies human cellular prion protein interactors.
18478114 2008 Evidence for a pathogenic role of different mutations at codon 188 of PRNP.
18445040 2008 Hypoxia induces expression of a GPI-anchorless splice variant of the prion protein.
18443555 2008 Novel PRNP mutation in a patient with a slow progressive dementia syndrome.
18436646 2008 Molecular conformation and dynamics of the Y145Stop variant of human prion protein in amyloid fibrils.
18425766 2008 PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China.
18423780 2008 Prion protein M129V polymorphism affects retrieval-related brain activity.
18419754 2008 The novel sorting nexin SNX33 interferes with cellular PrP formation by modulation of PrP shedding.
18413481 2008 In vivo detection of thalamic gliosis: a pathoradiologic demonstration in familial fatal insomnia.
18406463 2008 Native, amyloid fibrils and beta-oligomers of the C-terminal domain of human prion protein display differential activation of complement and bind C1q, factor H and C4b-binding protein directly.
18372408 2008 Differences of apparent diffusion coefficient values in patients with Creutzfeldt-Jakob disease according to the codon 129 genotype.
18349519 2008 Association between deposition of beta-amyloid and pathological prion protein in sporadic Creutzfeldt-Jakob disease.
18347820 2008 Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation.
18332630 2008 Survival in Alzheimer's disease is shorter in women carrying heterozygosity at codon 129 of the PRNP gene and no APOE epsilon 4 allele.
18325785 2008 Pathogenic mutations in the glycosylphosphatidylinositol signal peptide of PrP modulate its topology in neuroblastoma cells.
18275852 2008 Normal cellular prion protein with a methionine at position 129 has a more exposed helix 1 and is more prone to aggregate.
18247504 2008 Copper(II) ion binding to cellular prion protein.
18236081 2008 Cellular prion protein electron microscopy: attempts/limits and clues to a synaptic trait. Implications in neurodegeneration process.
18236005 2008 PRNP M129V homozygosity in multiple system atrophy vs. Parkinson's disease.
18218718 2008 Conformational pH dependence of intermediate states during oligomerization of the human prion protein.
18217885 2008 Codon 129 polymorphism of prion protein gene in sporadic Alzheimer's disease.
18204788 2008 GPI-anchorless human prion protein is secreted and glycosylated but lacks superoxide dismutase activity.
18191917 2008 The normal distribution of PRNP codon 129 polymorphism in the Moroccan population (Arabs and Casablanca residents).
18188498 2008 Expression of cellular prion protein (PrP(c)) in schizophrenia, bipolar disorder, and depression.
18038270 2008 Human tau protein forms complex with PrP and some GSS- and fCJD-related PrP mutants possess stronger binding activities with tau in vitro.
18029348 2008 Toward a confocal subcellular atlas of the human proteome.
18025469 2007 Molecular architecture of human prion protein amyloid: a parallel, in-register beta-structure.
18006836 2007 Silencing of prion protein sensitizes breast adriamycin-resistant carcinoma cells to TRAIL-mediated cell death.
17996224 2007 Neuronal and astrocytic cells, obtained after differentiation of human neural GFAP-positive progenitors, present heterogeneous expression of PrPc.
17987393 2008 The M129V polymorphism of codon 129 in the prion gene (PRNP) in the Danish population.
17965961 2007 Two different clinical phenotypes of Creutzfeldt-Jakob disease with a M232R substitution.
17873292 2007 Mutant prion protein D202N associated with familial prion disease is retained in the endoplasmic reticulum and forms 'curly' intracellular aggregates.
17827389 2007 Normal prion protein trafficking in cultured human erythroblasts.
17822808 2009 Increased frequency of positive family history of dementia in sporadic CJD.
17709704 2007 Inherited prion disease with 5-OPRI: phenotype modification by repeat length and codon 129.
17570906 2007 Absence of association between codon 129 and 219 polymorphisms of the prion protein gene and vascular dementia.
17560545 2007 A comparative molecular dynamics study on thermostability of human and chicken prion proteins.
17559305 2007 Diversity in neuroanatomical distribution of abnormal prion protein in atypical scrapie.
17539938 2007 Polymorphisms at codons 129 and 219 of the prion protein gene (PRNP) are not associated with sporadic Alzheimer's disease in the Korean population.
17519231 2007 Species-specific differences in the intermediate states of human and Syrian hamster prion protein detected by high pressure NMR spectroscopy.
17497959 2007 Normal cellular prion protein is a ligand of selectins: binding requires Le(X) but is inhibited by sLe(X).
17472702 2007 Amyloid fibrils of mammalian prion protein induce axonal degeneration in NTERA2-derived terminally differentiated neurons.
17449139 2007 Prion protein resides in membrane microclusters of the immunological synapse during lymphocyte activation.
17414209 2007 Prion protein and the red cell.
17410475 2007 Polymorphism distribution of prion protein codon 117, 129 and 171 in Taiwan.
17409275 2007 Cellular prion protein promotes proliferation and G1/S transition of human gastric cancer cells SGC7901 and AGS.
17385076 2007 Early onset fatal familial insomnia with rapid progression in a Chinese family line.
17334659 2007 Two Norwegian sisters with late onset Creutzfeldt-Jakob disease caused by the E200K mutation.
17313881 2006 [The relationship between prion protein gene codon 129 polymorphism and Alzheimer's disease].
17276393 2007 Human cellular prion protein hPrPC is sorted to the apical membrane of epithelial cells.
17260961 2007 Bending and unwinding of nucleic acid by prion protein.
17242357 2007 Beta-sheet core of human prion protein amyloid fibrils as determined by hydrogen/deuterium exchange.
17202849 2006 No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population.
17192785 2007 Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
17156017 2006 Prion protein prevents Bax-mediated cell death in the absence of other Bcl-2 family members in Saccharomyces cerevisiae.
17149767 2007 Cellular prion protein is increased in the plasma and peri-infarcted brain tissue after acute stroke.
17134829 2007 Regulatory sequences of the PRNP gene influence susceptibility to sporadic Creutzfeldt-Jakob disease.
17121821 2007 The C-terminal products of cellular prion protein processing, C1 and C2, exert distinct influence on p53-dependent staurosporine-induced caspase-3 activation.
17092648 2007 Association between the M129V variant allele of PRNP gene and mild temporal lobe epilepsy in women.
17047093 2006 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.
17029361 2006 Computational comparison of cation coordination to human prion peptide models.
17023178 2007 Structural characterization of beta-sheeted oligomers formed on the pathway of oxidative prion protein aggregation in vitro.
16987816 2006 Insoluble aggregates and protease-resistant conformers of prion protein in uninfected human brains.
16950206 2006 Dividing roles of prion protein in staurosporine-mediated apoptosis.
16934224 2006 Prion protein inhibits microtubule assembly by inducing tubulin oligomerization.
16925523 2006 Multiple forms of copper (II) co-ordination occur throughout the disordered N-terminal region of the prion protein at pH 7.4.
16921242 2006 Autopsy-proven Creutzfeldt-Jakob disease with a codon 180 mutation showing dissociation between diffusion-weighted magnetic resonance imaging and single-photon emission computed tomography findings: Is this a suggestive finding in long survival?
16914329 2006 High frequency occurrence of 1-OPRD variant of PRNP gene in gastric cancer cell lines and Chinese population with gastric cancer.
16908519 2006 Conditions of endoplasmic reticulum stress favor the accumulation of cytosolic prion protein.
16897605 2006 Prion protein gene M129 allele is a risk factor for Alzheimer's disease.
16889908 2006 Polymorphic microsatellite sites in the PRNP region point to excess of homozygotes in Creutzfeldt-Jakob disease patients.
16858508 2006 Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotype.
16847689 2006 Clinicopathologic characteristics of sporadic Japanese Creutzfeldt-Jakob disease classified according to prion protein gene polymorphism and prion protein type.
16847141 2006 Codon 129 polymorphism of the human prion protein influences the kinetics of amyloid formation.
16831968 2006 Influence of homozygosity for methionine at codon 129 of the human prion gene on the onset of neurological and hepatic symptoms in Wilson disease.
16825956 2006 Immunohistochemical expression of prion protein (PrPC) in the human forebrain during development.
16825951 2006 Gerstmann-Sträussler-Scheinker: a new phenotype with 'curly' PrP deposits.
16824036 2006 A reassessment of copper(II) binding in the full-length prion protein.
16764594 2006 Prion protein in patients with renal failure.
16750169 2006 Acetylcholinesterase triggers the aggregation of PrP 106-126.
16713569 2006 A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
16704797 2006 Protease-resistant prion protein in lymphoreticular tumors of variant Creutzfeldt-Jakob disease mice.
16674609 2006 Polymorphism of PRNP codons in the normal Icelandic population.
16672189 2006 Cellular isoform of the prion protein PrPc in human intestinal cell lines: genetic polymorphism at codon 129, mRNA quantification and protein detection in lipid rafts.
16582585 2006 Overexpression of PrPC and its antiapoptosis function in gastric cancer.
16580884 2006 Cognitive performance of patients with mesial temporal lobe epilepsy is not associated with human prion protein gene variant allele at codons 129 and 171.
16547836 2006 Analysis of PRNP gene codon 129 polymorphism in the Greek population.
16545382 2006 Putative aggregation initiation sites in prion protein.
16543824 2006 Prion protein gene codon 129 modulates clinical course of neurological Wilson disease.
16537913 2006 Cell-specific metabolism and pathogenesis of transmembrane prion protein.
16533975 2006 Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.
16519692 2006 Synthesis and structural characterization of a mimetic membrane-anchored prion protein.
16478730 2006 Prion proteins with insertion mutations have altered N-terminal conformation and increased ligand binding activity and are more susceptible to oxidative attack.
16460908 2006 Comparative genomic organization of the human and bovine PRNP locus.
16443601 2006 Role of N-terminal familial mutations in prion protein fibrillization and prion amyloid propagation in vitro.
16434486 2006 Cellular prion protein is released on exosomes from activated platelets.
16432880 2006 The determinants of stability in the human prion protein: insights into folding and misfolding from the analysis of the change in the stabilization energy distribution in different conditions.
16344560 2006 Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes.
16342955 2005 Definable equilibrium states in the folding of human prion protein.
16324095 2005 Creutzfeldt-Jakob disease risk and PRNP codon 129 polymorphism: necessity to revalue current data.
16315279 2005 Prion protein codon 129 genotype prevalence is altered in primary progressive aphasia.
16314483 2005 Creutzfeldt-Jakob disease (CJD) with a mutation at codon 148 of prion protein gene: relationship with sporadic CJD.
16298483 2006 The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations.
16294306 2006 Identification of prion protein binding proteins by combined use of far-Western immunoblotting, two dimensional gel electrophoresis and mass spectrometry.
16287045 2006 Prion genotypes in Central America suggest selection for the V129 allele.
16286452 2006 Gerstmann-Sträussler-Scheinker disease amyloid protein polymerizes according to the "dock-and-lock" model.
16263114 2005 The N-terminal cleavage of cellular prion protein in the human brain.
16254249 2005 Assigning functions to distinct regions of the N-terminus of the prion protein that are involved in its copper-stimulated, clathrin-dependent endocytosis.
16217673 2005 Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.
16215462 2005 Sporadic Creutzfeldt-Jakob disease: the extent of microglia activation is dependent on the biochemical type of PrPSc.
16215457 2005 The 14-3-3 protein forms a molecular complex with heat shock protein Hsp60 and cellular prion protein.
16192387 2005 Overexpression of PrPC by adenovirus-mediated gene targeting reduces ischemic injury in a stroke rat model.
16187142 2005 Genetic prion disease: the EUROCJD experience.
16175355 2005 Neuropathologic characteristics of spinal cord lesions in sporadic Creutzfeldt-Jakob disease.
16156720 2005 Recombinant prion protein does not possess SOD-1 activity.
16120605 2005 Reactive oxygen species-mediated beta-cleavage of the prion protein in the cellular response to oxidative stress.
16119432 2005 Genotype frequencies at codon 129 of the prion protein gene in Brazil: Implications in susceptibility to variant Creutzfeldt-Jakob disease compared to European and Asian populations.
16099923 2005 PrP glycoforms are associated in a strain-specific ratio in native PrPSc.
16099550 2006 Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.
16051190 2005 Purification of normal cellular prion protein from human platelets and the formation of a high molecular weight prion protein complex following platelet activation.
16025285 2005 Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia.
16009550 2005 Absence of mutations in the prion-protein gene in a large cohort of HMSN patients.
16004966 2005 Direct interaction between prion protein and tubulin.
15997418 2006 Analysis of the polymorphic prion protein gene codon 129 in idiopathic Parkinson's disease.
15987701 2005 The prion gene is associated with human long-term memory.
15946217 2005 The expression of prion protein (PrP(C)) in the megakaryocyte lineage.
15862295 2005 The presence of valine at residue 129 in human prion protein accelerates amyloid formation.
15850959 2005 [Prion protein and copper: a mysterious relationship].
15846375 2005 Cellular prion protein inhibits proapoptotic Bax conformational change in human neurons and in breast carcinoma MCF-7 cells.
15837581 Mice devoid of prion protein have cognitive deficits that are rescued by reconstitution of PrP in neurons.
15775715 2005 Presymptomatic signs in healthy CJD mutation carriers.
15748158 2005 Combined pharmacological, mutational and cell biology approaches indicate that p53-dependent caspase 3 activation triggered by cellular prion is dependent on its endocytosis.
15684434 2005 Comparative analysis of the human and chicken prion protein copper binding regions at pH 6.5.
15639746 2005 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 Europe.
15609351 2005 Binding of recombinant PrPc to human plasminogen: kinetic and thermodynamic study using a resonant mirror biosensor.
15591591 2005 Pathogenic mutations located in the hydrophobic core of the prion protein interfere with folding and attachment of the glycosylphosphatidylinositol anchor.
15583862 2004 Modulation of signal transduction through the cellular prion protein is linked to its incorporation in lipid rafts.
15557533 2004 Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP.
15555583 2004 Synthetic human prion protein octapeptide repeat binds to the proteinase K active site.
15539564 2004 Human prion protein with valine 129 prevents expression of variant CJD phenotype.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15488240 2004 High capacity and low cost detection of prion protein gene variant alleles by denaturing HPLC.
15469448 2004 Clinical and genetic features of human prion diseases in Catalonia: 1993-2002.
15342556 2004 Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions.
15304595 2004 Cortical malformations are associated with a rare polymorphism of cellular prion protein.
15277640 2004 Prion protein codon 129 polymorphism and risk of Alzheimer disease.
15266305 2004 Polymorphisms of the PRNP gene in Chinese populations and the identification of a novel insertion mutation.
15258222 2004 Octapeptide repeat insertions in the prion protein gene and early onset dementia.
15247220 2004 Identification of distinct N-terminal truncated forms of prion protein in different Creutzfeldt-Jakob disease subtypes.
15215178 2004 Prion protein accumulation and neuroprotection in hypoxic brain damage.
15208260 2004 Presence of a "CAGA box" in the APP gene unique to amyloid plaque-forming species and absent in all APLP-1/2 genes: implications in Alzheimer's disease.
15203115 2004 Human Doppel and prion protein share common membrane microdomains and internalization pathways.
15148589 2004 Polymorphisms of the prion protein gene (PRNP) in a Korean population.
15146195 2004 Time-controlled transcardiac perfusion cross-linking for the study of protein interactions in complex tissues.
15140132 2004 Prion protein stimulates tissue-type plasminogen activator-mediated plasmin generation via a lysine-binding site on kringle 2.
15131108 2004 Methionine 129 variant of human prion protein oligomerizes more rapidly than the valine 129 variant: implications for disease susceptibility to Creutzfeldt-Jakob disease.
15123682 2004 The residue 129 polymorphism in human prion protein does not confer susceptibility to Creutzfeldt-Jakob disease by altering the structure or global stability of PrPC.
15050367 2004 Alpha- and beta- cleavages of the amino-terminus of the cellular prion protein.
14983221 2004 Both lysine-clusters of the NH2-terminal prion-protein fragment PrP23-110 are essential for t-PA mediated plasminogen activation.
14970845 2004 Polymorphisms in the prion protein gene and in the doppel gene increase susceptibility for Creutzfeldt-Jakob disease.
14761942 2004 The effect of disease-associated mutations on the folding pathway of human prion protein.
14745079 2004 Polymorphisms within the prion (PrP) and prion-like protein (Doppel) genes in AD.
14744790 2004 Prion protein prevents human breast carcinoma cell line from tumor necrosis factor alpha-induced cell death.
14702039 2004 Complete sequencing and characterization of 21,243 full-length human cDNAs.
14668351 2004 Autocatalytic conversion of recombinant prion proteins displays a species barrier.
14645231 2004 The C-terminal globular domain of the prion protein is necessary and sufficient for import into the endoplasmic reticulum.
14623188 2003 The octapeptide repeats in mammalian prion protein constitute a pH-dependent folding and aggregation site.
14616310 2003 The normal population distribution of PRNP codon 129 polymorphism.
14610121 2003 Surgical outcome in mesial temporal sclerosis correlates with prion protein gene variant.
14593432 2003 M129V variation in the prion protein may influence cognitive performance.
14576159 2004 The cellular prion protein PrPc is expressed in human enterocytes in cell-cell junctional domains.
14519851 2003 Nucleation-dependent conformational conversion of the Y145Stop variant of human prion protein: structural clues for prion propagation.
12970341 2003 Structural properties of Gerstmann-Straussler-Scheinker disease amyloid protein.
12952977 2003 CD and NMR studies of prion protein (PrP) helix 1. Novel implications for its role in the PrPC-->PrPSc conversion process.
12946346 2003 Small, highly structured RNAs participate in the conversion of human recombinant PrP(Sen) to PrP(Res) in vitro.
12917444 2003 Cytosolic prion protein is not toxic and protects against Bax-mediated cell death in human primary neurons.
12917418 2003 Identification of novel proteinase K-resistant C-terminal fragments of PrP in Creutzfeldt-Jakob disease.
12867116 2003 Distribution of codon 129 genotype in human growth hormone-treated CJD patients in France and the UK.
12805563 2003 The interplay of glycosylation and disulfide formation influences fibrillization in a prion protein fragment.
12796830 2003 The 129 codon polymorphism of the prion protein gene influences earlier cognitive performance in Down syndrome subjects.
12778138 2003 A prion protein epitope selective for the pathologically misfolded conformation.
12719777 2003 Stimulation of plasminogen activation by recombinant cellular prion protein is conserved in the NH2-terminal fragment PrP23-110.
12694397 2003 The human prion octarepeat fragment prevents and reverses the inhibitory action of copper in the P2X4 receptor without modifying the zinc action.
12692258 2003 Sphingosine kinase-dependent migration of immature dendritic cells in response to neurotoxic prion protein fragment.
12690204 2003 Balancing selection at the prion protein gene consistent with prehistoric kurulike epidemics.
12684540 2003 Abbreviated incubation times for human prions in mice expressing a chimeric mouse-human prion protein transgene.
12682740 2003 Neuropathological features of a case with schizophrenia and prion protein gene P102L mutation before onset of Gerstmann-Sträussler-Scheinker disease.
12679875 2003 Polymorphism of the codon 129 of the prion protein (PrP) gene and neuropathology of cerebral ageing.
12679034 2003 Soluble dimeric prion protein binds PrP(Sc) in vivo and antagonizes prion disease.
12659837 2003 On the same cell type GPI-anchored normal cellular prion and DAF protein exhibit different biological properties.
12645301 2002 [The prion protein].
12621436 2003 Monoclonal antibodies inhibit prion replication and delay the development of prion disease.
12601712 2003 PRNP Val129 homozygosity increases risk for early-onset Alzheimer's disease.
12590162 2003 Aggresome formation by mutant prion proteins: the unfolding role of proteasomes in familial prion disorders.
12568340 2002 Structural features of prions explored by sequence analysis. II. A PrP(Sc) model.
12547204 2003 NMR structure of a variant human prion protein with two disulfide bridges.
12543108 2003 CD34+ cells from paroxysmal nocturnal hemoglobinuria (PNH) patients are deficient in surface expression of cellular prion protein (PrPc).
12514748 2002 Genomic characterization of the human prion protein (PrP) gene locus.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12464104 2002 Effect of the prion 129 polymorphism on nocturnal sleep and insomnia complaints: a population-based study.
12459456 2002 A cluster of familial Creutzfeldt-Jakob disease mutations recapitulate conserved residues in Doppel: a case of molecular mimicry?
12399017 2002 Polymorphism at codon 174 of the prion-like protein gene is not associated with sporadic Alzheimer's disease.
12392052 2002 Molecular modulation of expression of prion protein by heat shock.
12359724 2002 Intercellular transfer of the cellular prion protein.
12356908 2002 Recombinant human prion protein mutants huPrP D178N/M129 (FFI) and huPrP+9OR (fCJD) reveal proteinase K resistance.
12356762 2002 Kinetic intermediate in the folding of human prion protein.
12205650 2002 Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
12186633 2002 Cell-surface prion protein interacts with glycosaminoglycans.
12161431 2002 Acidic pH and detergents enhance in vitro conversion of human brain PrPC to a PrPSc-like form.
12093732 2002 Stress-inducible protein 1 is a cell surface ligand for cellular prion that triggers neuroprotection.
12084159 2002 Comparative analysis of normal prion protein expression on human, rodent, and ruminant blood cells by using a panel of prion antibodies.
12034503 2002 PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease.
11900542 2002 Molecular features of the copper binding sites in the octarepeat domain of the prion protein.
11882649 2002 Identification of the heparan sulfate binding sites in the cellular prion protein.
11840201 2001 Distribution of the M129V polymorphism of the prion protein gene in a Turkish population suggests a high risk for Creutzfeldt-Jakob disease.
11833672 2002 Rapid typing of the codon 129 polymorphism of the human prion protein gene by combined real-time PCR and melting curve analysis.
11780052 2001 The DNA sequence and comparative analysis of human chromosome 20.
11709001 2001 A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
11684342 2001 Influence of the prion protein and the apolipoprotein E genotype on the Creutzfeldt-Jakob Disease phenotype.
11584448 2001 Codon 129 polymorphism of the PRNP gene in normal Polish population and in Creutzfeldt-Jakob disease, and the search for new mutations in PRNP gene.
11571277 2001 PrPC directly interacts with proteins involved in signaling pathways.
11559357 2001 All or none fibrillogenesis of a prion peptide.
11283320 2001 Prion diseases of humans and animals: their causes and molecular basis.
11278562 2001 The prion protein has RNA binding and chaperoning properties characteristic of nucleocapsid protein NCP7 of HIV-1.
11244488 2001 Lack of evidence to support the association of the human prion gene with schizophrenia.
11220690 Does PRNP gene control the clinical and pathological phenotype of human spongiform transmissible encephalopathies?
11161453 2001 The expression and potential function of cellular prion protein in human lymphocytes.
11120925 2001 Increased susceptibility to Kuru of carriers of the PRNP 129 methionine/methionine genotype.
11100730 2000 Binding of disease-associated prion protein to plasminogen.
11062072 2000 Bovine prion protein as a modulator of protein kinase CK2.
11060296 2001 Cleavage of the amino terminus of the prion protein by reactive oxygen species.
11032800 2000 Post-translational hydroxylation at the N-terminus of the prion protein reveals presence of PPII structure in vivo.
10988071 2000 Signal transduction through prion protein.
10987652 1999 Molecular genetics of human prion diseases in Germany.
10970892 2000 The chaperone protein BiP binds to a mutant prion protein and mediates its degradation by the proteasome.
10954699 2000 Solution structure of the E200K variant of human prion protein. Implications for the mechanism of pathogenesis in familial prion diseases.
10900000 2000 NMR structures of three single-residue variants of the human prion protein.
10790216 2000 Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype.
10631141 2000 High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.
10618385 2000 NMR solution structure of the human prion protein.
10581485 1999 Novel PRNP sequence variant associated with familial encephalopathy.
10090891 1999 Ancestral origins and worldwide distribution of the PRNP 200K mutation causing familial Creutzfeldt-Jakob disease.
9799790 1998 Complete genomic sequence and analysis of the prion protein gene region from three mammalian species.
9786248 1998 Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
9482303 1998 Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease.
9473220 1998 Prion protein expression in human leukocyte differentiation.
9384372 1997 A prion-linked psychiatric disorder.
9266722 1997 Familial spongiform encephalopathy associated with a novel prion protein gene mutation.
8962161 1996 Subcellular colocalization of the cellular and scrapie prion proteins in caveolae-like membranous domains.
8909447 1996 Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.
8797472 1996 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).
8797471 1996 Familial Creutzfeldt-Jakob disease with a five-repeat octapeptide insert mutation.
8676499 1996 Prion protein PrPc interacts with molecular chaperones of the Hsp60 family.
8461023 1993 Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome.
8364585 1993 Mutations and polymorphisms in the prion protein gene.
8105771 1993 Genetic and infectious prion diseases.
7913755 1994 Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease.
7906019 1994 Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene.
7902972 1993 A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.
7902693 1993 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.
7783876 1995 Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
7699395 1994 A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
7642585 1995 Truncated forms of the human prion protein in normal brain and in prion diseases.
7630420 1995 First experimental transmission of fatal familial insomnia.
7592679 1995 A mutant prion protein displays an aberrant membrane association when expressed in cultured cells.
7572084 1995 Prion disease with 144 base pair insertion in a Japanese family line.
7485229 1995 SSCP analysis and sequencing of the human prion protein gene (PRNP) detects two different 24 bp deletions in an atypical Alzheimer's disease family.
3755672 1986 Molecular cloning of a human prion protein cDNA.
3014653 1986 Human prion protein cDNA: molecular cloning, chromosomal mapping, and biological implications.
2783132 1989 Pro----leu change at position 102 of prion protein is the most common but not the sole mutation related to Gerstmann-Sträussler syndrome.
2572450 1989 Mutations in familial Creutzfeldt-Jakob disease and Gerstmann-Sträussler-Scheinker's syndrome.
2567794 1989 Diagnosis of Gerstmann-Sträussler syndrome in familial dementia with prion protein gene analysis.
2564168 1989 Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
2180366 1990 Creutzfeldt-Jakob disease patients with congophilic kuru plaques have the missense variant prion protein common to Gerstmann-Sträussler syndrome.
2159587 1990 An in-frame insertion in the prion protein gene in familial Creutzfeldt-Jakob disease.
1736177 1992 Atypical Creutzfeldt-Jakob disease in an American family with an insert mutation in the PRNP amyloid precursor gene.
1683708 1991 Transmissible familial Creutzfeldt-Jakob disease associated with five, seven, and eight extra octapeptide coding repeats in the PRNP gene.
1678248 1991 Genomic structure of the human prion protein gene.
1677164 1991 Homozygous prion protein genotype predisposes to sporadic Creutzfeldt-Jakob disease.
1672107 1991 Amyloid protein of Gerstmann-Sträussler-Scheinker disease (Indiana kindred) is an 11 kd fragment of prion protein with an N-terminal glycine at codon 58.
1671440 1991 New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred.
1439789 1992 Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
1363810 1992 Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
1363802 1992 Deletion in the prion protein gene in a demented patient.
1357663 1992 Prion protein preamyloid and amyloid deposits in Gerstmann-Sträussler-Scheinker disease, Indiana kindred.
1352724 1992 Inherited prion disease with 144 base pair gene insertion. 1. Genealogical and molecular studies.
1351748 1992 Accumulation of transcripts coding for prion protein in human astrocytes during infection with human immunodeficiency virus.
1347910 1992 Fatal familial insomnia: a second kindred with mutation of prion protein gene at codon 178.
1346338 1992 Fatal familial insomnia, a prion disease with a mutation at codon 178 of the prion protein gene.