Affinage

PRNP

Major prion protein · UniProt P04156

Length
253 aa
Mass
27.7 kDa
Annotated
2026-06-10
100 papers in source corpus 12 papers cited in narrative 12 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

PRNP encodes the cellular prion protein (PrPC), whose codon 129 Met/Val polymorphism acts as a principal determinant of prion strain propagation and disease phenotype: human PrP with Met129 is required to generate the vCJD phenotype after BSE infection, while Val129 propagates a distinct strain and maintains a transmission barrier (PMID:15539564), and the same codon 129 polymorphism cis to the pathogenic D178N mutation dictates whether the resulting disease is Fatal Familial Insomnia (Met129) or familial CJD (Val129) (PMID:7999319). PrP dimorphisms also govern disease kinetics, as gene-targeted substitution of mouse PrP residues at codons 108/189 dramatically alters scrapie incubation time and maps the Sinc/Prni locus to Prnp (PMID:9462739). Beyond prion biology, PrPC functions in cellular trafficking and survival pathways: its octapeptide repeat domain suppresses CAV1-dependent autophagy by impairing assembly of the CAV1-ATG12-ATG5 complex, thereby protecting multivesicular bodies and promoting exosome release (PMID:27629560), and PrP protects cerebellar Purkinje cells against Doppel-induced autophagy and apoptosis (PMID:19055638). PrP expression is controlled at multiple levels — transcriptionally through an IGF-1–PI3K–Akt axis that phosphorylates and exports the repressor FOXO3a from the PRNP promoter (PMID:23967259), through promoter indel polymorphisms altering transcription-factor binding (PMID:16141216), and post-transcriptionally via direct miR-193b-3p targeting of the 3'-UTR, itself under c-Jun control (PMID:39972491). The locus additionally encodes AltPrP, a mitochondrially-localized polypeptide translated from a +3 reading-frame AUG and induced by ER stress (PMID:21478263).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 1994 Medium

    Established that a single coding polymorphism can redirect the phenotypic outcome of a fixed pathogenic mutation, answering why identical D178N mutations cause two distinct diseases.

    Evidence Genetic haplotype analysis and codon 129 co-segregation across affected pedigrees

    PMID:7999319

    Open questions at the time
    • Does not establish the molecular basis by which the codon 129 residue alters misfolding conformation
    • Single genetic method without biochemical reconstitution
  2. 1998 High

    Demonstrated that specific PrP residues, not a separate locus, control scrapie incubation time, resolving the congruence of Sinc/Prni with Prnp.

    Evidence Gene-targeted knock-in of PrP codon 108/189 variants challenged with mouse-adapted BSE

    PMID:9462739

    Open questions at the time
    • Mechanism linking residues 108/189 to conversion kinetics not defined
    • Restricted to mouse-adapted BSE strain
  3. 2004 High

    Showed that codon 129 genotype dictates which prion strain propagates and whether a transmission barrier persists, establishing the polymorphism as a strain-selection determinant.

    Evidence Transgenic mice expressing human PrP Met129 or Val129 with BSE transmission and subpassage

    PMID:15539564

    Open questions at the time
    • Structural basis of strain selection by residue 129 unresolved
    • Does not address host factors beyond PrP sequence
  4. 2004 Low

    Mapped Prnp expression to specific germ cell stages, raising a candidate role in spermatogenesis.

    Evidence Northern blot and in situ hybridization across testicular cell types and developmental time points

    PMID:15514463

    Open questions at the time
    • Localization only — no functional consequence for fertility or germ cell differentiation established
    • No protein-level confirmation
  5. 2005 Medium

    Identified that promoter indel polymorphisms set basal PrP expression levels via differential transcription-factor binding, linking regulatory variation to disease susceptibility.

    Evidence Reporter assays, EMSA, and in vivo mRNA quantification across bovine genotypes

    PMID:16141216

    Open questions at the time
    • Identity of functional transcription factors at the indels inferred from binding sites
    • Human relevance not directly tested
  6. 2008 Medium

    Provided evidence that PrP normally protects neurons against Doppel-induced autophagy and apoptosis, connecting PrP loss to neurodegeneration in Purkinje cells.

    Evidence Autophagy/apoptosis markers and ultrastructure in Ngsk Prnp-null vs. wild-type cerebellum

    PMID:19055638

    Open questions at the time
    • Mechanism by which PrP antagonizes Dpl toxicity not defined
    • Specific to Purkinje cell context
  7. 2008 Low

    Linked PrPC depletion to altered transcription of proliferation and mitochondrial apoptosis genes, hinting at a survival-regulatory role.

    Evidence Dual-targeting miRNA knockdown with expression profiling and viability assays in neuroblastoma cells

    PMID:21494092

    Open questions at the time
    • Correlative transcript changes without validated mechanistic pathway
    • Off-target effects of dual miRNA not excluded
  8. 2011 Medium

    Revealed that the PRNP locus is bicistronic, encoding a mitochondrial polypeptide AltPrP from an alternate reading frame, expanding the locus's coding capacity.

    Evidence HA-tag insertion in +3 ORF, siRNA co-knockdown, endogenous antibody detection, and fractionation across multiple species

    PMID:21478263

    Open questions at the time
    • Function of AltPrP at mitochondria unknown
    • Role in prion disease not established
  9. 2013 Medium

    Defined an IGF-1–PI3K–Akt–FOXO3a transcriptional axis controlling PRNP expression, identifying an upstream signaling input.

    Evidence Reporter assay, ChIP for FOXO3a promoter binding, pharmacological PI3K inhibition, and subcellular fractionation

    PMID:23967259

    Open questions at the time
    • Physiological contexts engaging this axis not mapped
    • FOXO3a co-regulators at the promoter not identified
  10. 2016 Medium

    Established a non-prion cellular function: the PrP octapeptide repeat domain suppresses CAV1-dependent autophagy to promote exosome secretion.

    Evidence Prnp-null rescue, domain deletion, autophagy inhibition, and CAV1-ATG12-ATG5 complex detection with EM/IF quantification

    PMID:27629560

    Open questions at the time
    • Direct binding of octapeptide repeats to complex components not demonstrated
    • Single-lab finding
  11. 2023 Low

    Implicated RBMS1-driven PRNP translation in ferroptosis resistance and chemoresistance, extending PrP function to cancer cell survival.

    Evidence Knockdown/overexpression, xenografts, and ferroptosis marker analysis in colorectal cancer cells

    PMID:37861356

    Open questions at the time
    • Translational mechanism not directly validated (no polysome profiling or reconstitution)
    • Direct RBMS1-PRNP mRNA interaction not shown
  12. 2025 Medium

    Defined a c-Jun–miR-193b-3p axis post-transcriptionally controlling PRNP, linking PrP to lung cancer cell migration and invasion.

    Evidence Luciferase 3'-UTR reporter, RIP, c-Jun ChIP, rescue, and xenograft assays

    PMID:39972491

    Open questions at the time
    • Downstream effectors of PrP in invasion not defined
    • Single-study mechanism

Open questions

Synthesis pass · forward-looking unresolved questions
  • How PrPC's normal cellular functions (exosome/autophagy regulation, survival signaling) mechanistically relate to its conversion into pathogenic prions and to codon 129/108/189-dictated strain selection remains unresolved.
  • No structural model linking polymorphic residues to strain conformation
  • Connection between physiological PrP functions and conversion mechanism unestablished
  • Role of AltPrP in disease unknown

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0098772 molecular function regulator activity 2
Localization
GO:0005739 mitochondrion 1
Pathway
R-HSA-1643685 Disease 3 R-HSA-5357801 Programmed Cell Death 2 R-HSA-9612973 Autophagy 2
Partners
ATG12ATG5CAV1FOXO3ARBMS1

Evidence

Reading pass · 12 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2004 Expression of human PrP with methionine at codon 129 (Met129) is required for generation of the vCJD phenotype in transgenic mice after BSE prion infection; expression of PrP with valine 129 (Val129) results in a distinct phenotype and persistence of a transmission barrier on subpassage, demonstrating that polymorphic residue 129 dictates propagation of distinct prion strains. Transgenic mouse model expressing human PrP Met129 or Val129; prion transmission/subpassage experiments Science High 15539564
1998 Gene-targeted modification of the endogenous Prnp allele to express PrP B (codon 108F and 189V) instead of PrP A dramatically shortened scrapie incubation times after challenge with mouse-adapted BSE, demonstrating that PrP dimorphisms at codons 108 and/or 189 control incubation time and that Sinc/Prni and Prnp loci are congruent. Gene targeting / knock-in mouse; challenge with mouse-adapted BSE strain; incubation time measurement Nature genetics High 9462739
1994 The combination of the D178N pathogenic mutation with Met129 on the mutant PRNP allele causes Fatal Familial Insomnia, whereas D178N with Val129 causes familial CJD, demonstrating that a polymorphism at codon 129 on the mutant allele determines the distinct disease phenotype produced by the same pathogenic mutation. Genetic analysis of PRNP haplotypes in affected pedigrees; co-segregation of codon 129 polymorphism with disease phenotype Molecular neurobiology Medium 7999319
2016 PRNP regulates exosome secretion by suppressing CAV1-dependent autophagy; specifically, the PRNP octapeptide repeat domain impairs formation of the CAV1-ATG12-ATG5 cytoplasmic complex that drives autophagosome formation, thereby protecting multivesicular bodies from sequestration and facilitating exosome release. Primary cultures from prnp-null mice; PRNP reconstitution; BECN1 depletion; Western blot for CAV1, ATG12-ATG5 complex; MVB and autophagosome quantification by electron microscopy/immunofluorescence Autophagy Medium 27629560
2011 The PRNP locus encodes a second polypeptide, AltPrP, translated from a downstream AUG codon in the +3 reading frame; AltPrP is constitutively co-expressed with PrP in human, bovine, sheep, and deer cells, localizes to mitochondria, and is up-regulated by ER stress and proteasomal inhibition. HA-tag insertion in +3 ORF; anti-HA immunoblot; siRNA knockdown of PrP mRNA confirming co-repression of AltPrP; subcellular fractionation/immunofluorescence for mitochondrial localization; detection in human brain homogenate and PBMCs FASEB journal Medium 21478263
2013 IGF-1 enhances PRNP expression through PI3K-Akt signaling, which phosphorylates transcription factor FOXO3a, causing its translocation from nucleus to cytoplasm and relieving its repression of the PRNP promoter; conversely, PI3K-Akt inhibition with LY294002 causes FOXO3a nuclear retention and decreased PRNP expression. Reporter gene assay; ChIP showing FOXO3a binding to PRNP promoter; pharmacological PI3K-Akt inhibition; nuclear/cytoplasmic fractionation; RT-PCR and Western blot for PRNP mRNA and protein PloS one Medium 23967259
2005 Bovine PRNP promoter polymorphisms (23-bp and 12-bp indels containing RP58-binding and SP1-binding sites, respectively) modulate PRNP expression; band shift assays showed differential transcription factor binding, reporter gene assays showed lower expression of the ins/ins allele vs. del/del, and in vivo mRNA measurements confirmed genotype-dependent expression differences in intestinal lymph nodes. Reporter gene assays; electrophoretic mobility shift assays (EMSA); in vivo PRNP mRNA quantification in calves of different genotypes The Journal of biological chemistry Medium 16141216
2008 Prnp knockdown in neuroblastoma cells using dual miRNA targeting (N- and C-termini simultaneously) caused increased transcript abundance of Plk3, Ppp2r2b, Csnk2a1, and 670460F02Rik, genes involved in cell proliferation and mitochondrial-mediated apoptosis, linking PrPC depletion to altered proliferation and apoptosis pathways. Dual-targeting miRNA (miRdual) construct; gene expression profiling; cell proliferation, viability and apoptosis assays in PrPC-depleted neuroblastoma cells Prion Low 21494092
2023 RBMS1 promotes PRNP translation, leading to increased PrP expression that confers ferroptosis resistance in colorectal cancer cells and contributes to oxaliplatin chemoresistance; inhibition of RBMS1 caused ferroptosis and restored oxaliplatin sensitivity. Bioinformatics analysis; in vitro knockdown/overexpression experiments; in vivo mouse xenograft models; mechanistic link between RBMS1, PRNP translation, and ferroptosis markers Molecular carcinogenesis Low 37861356
2025 miR-193b-3p directly targets the 3'-UTR of PRNP to suppress PrPc expression and inhibit lung cancer cell migration and invasion; c-Jun acts as a transcriptional repressor of miR-193b-3p, such that c-Jun activity upregulates PRNP through relief of miR-193b-3p-mediated repression. Dual-luciferase reporter assay (miRNA-3'UTR interaction); RNA immunoprecipitation (RIP); ChIP assay (c-Jun binding to miR-193b-3p promoter); transwell migration/invasion assays; Western blot; RT-PCR; in vivo xenograft models Journal of biomedical science Medium 39972491
2008 In Ngsk Prnp-deficient mice, ectopic expression of Doppel (Dpl) in cerebellar Purkinje cells triggers both autophagy and apoptosis; autophagic markers LC3B, p62, and Scrg1 accumulate at the protein but not mRNA level, and autophagic-like profiles accumulate in somatodendritic and axonal compartments, suggesting impaired autophagic flux. This demonstrates that PrP normally protects against Dpl-induced autophagy/apoptosis in Purkinje cells. Western blotting and immunohistofluorescence for autophagy markers; RT-PCR; ultrastructural electron microscopy; comparison of Prnp-null vs. wild-type mice Brain pathology Medium 19055638
2004 Prnp mRNA is expressed in mouse spermatogenic cells (spermatogonia, spermatocytes, and round spermatids) but not in somatic testicular cells (Sertoli, Leydig, peritubular myoid) or elongated spermatids/spermatozoa, suggesting a role for PrP in germ cell differentiation during spermatogenesis. Northern blot analysis of Prnp transcripts in testes at multiple developmental time points; in situ hybridization on testis sections The Journal of reproduction and development Low 15514463

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2003 Sporadic and familial CJD: classification and characterisation. British medical bulletin 403 14522861
2004 Human prion protein with valine 129 prevents expression of variant CJD phenotype. Science (New York, N.Y.) 202 15539564
2003 Acquired prion disease: iatrogenic CJD, variant CJD, kuru. British medical bulletin 152 14522863
1998 Mice with gene targetted prion protein alterations show that Prnp, Sinc and Prni are congruent. Nature genetics 150 9462739
2018 RT-QuIC: a new test for sporadic CJD. Practical neurology 116 30282760
2005 Bovine prion protein gene (PRNP) promoter polymorphisms modulate PRNP expression and may be responsible for differences in bovine spongiform encephalopathy susceptibility. The Journal of biological chemistry 99 16141216
1993 Mutation and polymorphism of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease (CJD). American journal of human genetics 91 8105682
2002 Clinical diagnosis and differential diagnosis of CJD and vCJD. With special emphasis on laboratory tests. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 84 12064260
1993 Deletions in the prion protein gene are not associated with CJD. Human molecular genetics 84 8100163
2017 Imaging and CSF analyses effectively distinguish CJD from its mimics. Journal of neurology, neurosurgery, and psychiatry 75 29142140
2010 PRNP allelic series from 19 years of prion protein gene sequencing at the MRC Prion Unit. Human mutation 74 20583301
2014 Variant CJD. 18 years of research and surveillance. Prion 70 25495404
2013 Dysregulation of brain olfactory and taste receptors in AD, PSP and CJD, and AD-related model. Neuroscience 61 23817016
2010 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. Neurobiology of aging 61 21193246
2015 The influence of PRNP polymorphisms on human prion disease susceptibility: an update. Acta neuropathologica 60 26022925
2004 Polymorphisms of the prion protein gene (PRNP) in a Korean population. Journal of human genetics 60 15148589
2018 Characterization of mutations in PRNP (prion) gene and their possible roles in neurodegenerative diseases. Neuropsychiatric disease and treatment 58 30147320
2002 Influence of the prion protein gene, Prnp, on scrapie susceptibility in sheep. APMIS : acta pathologica, microbiologica, et immunologica Scandinavica 56 12064254
2005 Reciprocal interference between specific CJD and scrapie agents in neural cell cultures. Science (New York, N.Y.) 54 16239476
2016 PRNP/prion protein regulates the secretion of exosomes modulating CAV1/caveolin-1-suppressed autophagy. Autophagy 52 27629560
2011 An overlapping reading frame in the PRNP gene encodes a novel polypeptide distinct from the prion protein. FASEB journal : official publication of the Federation of American Societies for Experimental Biology 41 21478263
2004 Prion protein gene (PRNP) variants and evidence for strong purifying selection in functionally important regions of bovine exon 3. Proceedings of the National Academy of Sciences of the United States of America 41 15477588
2002 PRNP contains both intronic and upstream regulatory regions that may influence susceptibility to Creutzfeldt-Jakob Disease. Gene 39 12034503
1998 Neuropathological findings in new variant CJD and experimental transmission of BSE. FEMS immunology and medical microbiology 36 9684997
2018 Genetic effects of PRNP gene insertion/deletion (indel) on phenotypic traits in sheep. Prion 34 29394137
2006 Genotype distribution of the prion protein gene (PRNP) promoter polymorphisms in Korean cattle. Genome 34 17426768
2019 Potential scrapie-associated polymorphisms of the prion protein gene (PRNP) in Korean native black goats. Scientific reports 33 31653880
2011 Genetic cross-interaction between APOE and PRNP in sporadic Alzheimer's and Creutzfeldt-Jakob diseases. PloS one 33 21799773
2008 Genetic variability of the PRNP gene in goat breeds from Northern and Southern Italy. Journal of applied microbiology 33 18217941
2015 CSF tau correlates with CJD disease severity and cognitive decline. Acta neurologica Scandinavica 31 26014384
2014 Nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of aging 29 24958194
2020 Chronic wasting disease associated with prion protein gene (PRNP) variation in Norwegian wild reindeer (Rangifer tarandus). Prion 28 31852336
2010 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. Acta neuropathologica 26 20198483
2001 The molecular pathology of CJD: old and new variants. Molecular pathology : MP 26 11724914
2012 PRNP and SPRN genes polymorphism in atypical bovine spongiform encephalopathy cases diagnosed in Polish cattle. Journal of applied genetics 25 22723200
2008 PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 25 18425766
2006 Variant CJD (vCJD) and bovine spongiform encephalopathy (BSE): 10 and 20 years on: part 2. Folia neuropathologica 25 16823692
2005 Polymorphisms of the prion protein gene (PRNP) in Hanwoo (Bos taurus coreanae) and Holstein cattle. Genes & genetic systems 25 16284424
2018 The first report of polymorphisms and genetic characteristics of the prion protein gene (PRNP) in horses. Prion 24 30165784
2014 First symptom and initial diagnosis in sporadic CJD patients in Germany. Journal of neurology 24 25022936
2009 Genetic variability of the prion protein gene (PRNP) in wild ruminants from Italy and Scotland. Journal of veterinary science 24 19461206
2001 C-reactive protein and IL-6: new marker proteins for the diagnosis of CJD in plasma? Transfusion 24 11778065
2021 Review on PRNP genetics and susceptibility to chronic wasting disease of Cervidae. Veterinary research 23 34620247
2016 Mutational analysis of PRNP in Alzheimer's disease and frontotemporal dementia in China. Scientific reports 23 27910931
2019 Variation in the prion protein gene (PRNP) sequence of wild deer in Great Britain and mainland Europe. Veterinary research 22 31366372
2006 Variant CJD (vCJD) and bovine spongiform encephalopathy (BSE): 10 and 20 years on: part 1. Folia neuropathologica 21 16823691
2020 Identification of Prion Disease-Related Somatic Mutations in the Prion Protein Gene (PRNP) in Cancer Patients. Cells 20 32560489
2008 A novel PRNP-P105S mutation associated with atypical prion disease and a rare PrPSc conformation. Neurology 20 18955686
2021 New and distinct chronic wasting disease strains associated with cervid polymorphism at codon 116 of the Prnp gene. PLoS pathogens 19 34310662
2020 First Report of the Potential Bovine Spongiform Encephalopathy (BSE)-Related Somatic Mutation E211K of the Prion Protein Gene (PRNP) in Cattle. International journal of molecular sciences 19 32549191
2020 Novel Polymorphisms and Genetic Characteristics of the Prion Protein Gene (PRNP) in Dogs-A Resistant Animal of Prion Disease. International journal of molecular sciences 18 32532135
2017 Prion Protein PRNP: A New Player in Innate Immunity? The Aβ Connection. Journal of Alzheimer's disease reports 18 30480243
2012 FOXP2, APOE, and PRNP: new modulators in primary progressive aphasia. Journal of Alzheimer's disease : JAD 18 22129783
2004 Expression of Prnp mRNA (prion protein gene) in mouse spermatogenic cells. The Journal of reproduction and development 18 15514463
2013 Global protein differential expression profiling of cerebrospinal fluid samples pooled from Chinese sporadic CJD and non-CJD patients. Molecular neurobiology 17 23912784
2011 Replication and spread of CJD, kuru and scrapie agents in vivo and in cell culture. Virulence 17 21527829
2011 Biochemical and strain properties of CJD prions: complexity versus simplicity. Journal of neurochemistry 17 21790605
2011 Prion proteins (PRNP and PRND) are over-expressed in osteosarcoma. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 17 22147650
2006 Prion protein gene (PRNP) polymorphisms in Xinjiang local sheep breeds in China. Archives of virology 17 16622593
2023 Inhibition of the RBMS1/PRNP axis improves ferroptosis resistance-mediated oxaliplatin chemoresistance in colorectal cancer. Molecular carcinogenesis 16 37861356
2021 A meta-analysis on RT-QuIC for the diagnosis of sporadic CJD. Acta neurologica Belgica 16 33486717
2019 Early-onset Alzheimer's disease patient with prion (PRNP) p.Val180Ile mutation. Neuropsychiatric disease and treatment 16 31410005
2016 CJD and Scrapie Require Agent-Associated Nucleic Acids for Infection. Journal of cellular biochemistry 16 26773845
2014 Gerstmann-Straüssler-Scheinker disease: novel PRNP mutation and VGKC-complex antibodies. Neurology 16 24814844
2010 Prion protein gene (PRNP) polymorphisms in native Chinese cattle. Genome 16 20140032
1998 Molecular analysis of prion protein gene (PRNP) in Korean patients with Creutzfeldt-Jakob disease. Journal of Korean medical science 16 9681800
2018 Low sequence diversity of the prion protein gene (PRNP) in wild deer and goat species from Spain. Veterinary research 15 29631620
2013 IGF-1-induced enhancement of PRNP expression depends on the negative regulation of transcription factor FOXO3a. PloS one 15 23967259
2020 Identification of the novel polymorphisms and potential genetic features of the prion protein gene (PRNP) in horses, a prion disease-resistant animal. Scientific reports 14 32488112
2020 Age structuring and spatial heterogeneity in prion protein gene (PRNP) polymorphism in white-tailed deer. Prion 14 33078661
2012 Genotype patterns and characteristics of PRNP in the Korean population. Prion 14 22561193
2012 PRNP gene variation in Pakistani cattle and buffaloes. Gene 14 22634099
2011 Establishment and characterization of Prnp knockdown neuroblastoma cells using dual microRNA-mediated RNA interference. Prion 14 21494092
2008 Evolution and differentiation of the prion protein gene (PRNP) among species. The Journal of heredity 14 18799453
2008 Autophagy and cell death of Purkinje cells overexpressing Doppel in Ngsk Prnp-deficient mice. Brain pathology (Zurich, Switzerland) 14 19055638
2008 Differential expression of Prnp and Sprn in scrapie infected sheep also reveals Prnp genotype specific differences. Biochemical and biophysical research communications 14 19070601
2006 Novel mutation of the PRNP gene of a clinical CJD case. BMC infectious diseases 14 17129366
2022 First report of a strong association between genetic polymorphisms of the prion protein gene (PRNP) and susceptibility to chronic wasting disease in sika deer (Cervus nippon). Transboundary and emerging diseases 13 35349210
2022 Methionine homozygosity for PRNP polymorphism and susceptibility to human prion diseases. Journal of neurology, neurosurgery, and psychiatry 13 35387866
2020 Autoantibodies against the prion protein in individuals with PRNP mutations. Neurology 13 32098855
2008 Positive correlation between relative mRNA expression of PRNP and SPRN in cerebral and cerebellar cortex of sheep. Molecular and cellular probes 13 19059475
2020 Geographic variation in the PRNP gene and its promoter, and their relationship to chronic wasting disease in North American deer. Prion 12 32715865
2015 Efficient PRNP deletion in bovine genome using gene-editing technologies in bovine cells. Prion 12 26217959
2013 BSE and variant CJD: emerging science, public pressure and the vagaries of policy-making. Preventive veterinary medicine 12 23287715
2022 Downregulated PRNP Facilitates Cell Proliferation and Invasion and Has Effect on the Immune Regulation in Ovarian Cancer. Journal of immunology research 11 36213323
2021 Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease. Alzheimer's research & therapy 11 34663460
2021 The First Meta-Analysis of the M129V Single-Nucleotide Polymorphism (SNP) of the Prion Protein Gene (PRNP) with Sporadic Creutzfeldt-Jakob Disease. Cells 11 34831353
2020 Novel Polymorphisms and Genetic Features of the Prion Protein Gene (PRNP) in Cats, Hosts of Feline Spongiform Encephalopathy. Genes 11 33374431
2018 The clinical features in Chinese patients with PRNP D178N mutation. Acta neurologica Scandinavica 11 29569252
2011 Genetic prion disease with codon 196 PRNP mutation: clinical and pathological findings. Neurobiology of aging 11 21232818
2011 Prion protein coding gene (PRNP) variability in sheep from Turkey and Iran. Biochemical genetics 11 21952878
2009 Gene and haplotype polymorphisms of the Prion gene (PRNP) in Japanese Brown, Japanese native and Holstein cattle. Animal science journal = Nihon chikusan Gakkaiho 11 20163615
2020 EEG Observations in Probable Sporadic CJD. Annals of Indian Academy of Neurology 10 33688124
2008 Prnp knockdown in transgenic mice using RNA interference. Transgenic research 10 18350371
2007 Quantitative trait loci linked to PRNP gene controlling health and production traits in INRA 401 sheep. Genetics, selection, evolution : GSE 10 17612481
1994 A novel mechanism of phenotypic heterogeneity demonstrated by the effect of a polymorphism on a pathogenic mutation in the PRNP (prion protein gene). Molecular neurobiology 10 7999319
2025 miR-193b-3p suppresses lung cancer cell migration and invasion through PRNP targeting. Journal of biomedical science 9 39972491
2021 PRNP Polymorphisms in Eight Local Goat Populations/Breeds from Central and Southern Italy. Animals : an open access journal from MDPI 9 33525718
2021 In-depth examination of PrPSc in Holstein cattle carrying the E211K somatic mutation of the bovine prion protein gene (PRNP). Transboundary and emerging diseases 9 34470082
2009 Lack of association between PRNP 1368 polymorphism and Alzheimer's disease or vascular dementia. BMC medical genetics 9 19351416

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