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Genetics of Prion Disease
The Prion Diseases (PrDs) are rare transmissible neurodegenerative diseases that result from the accumulation of a misfolded isoform (PrPSc) of the...
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The Spectrum of Tau Pathology in Human Prion Disease
Intracellular deposition of hyperphosphorylated tau characterizes tauopathies: there is a spectrum from neuron-predominant through mixed neuronal and...
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Characterization of Anchorless Human PrP With Q227X Stop Mutation Linked to Gerstmann-Sträussler-Scheinker Syndrome In Vivo and In Vitro
Alteration in cellular prion protein (PrP C ) localization on the cell surface through mediation of the glycosylphosphatidylinositol (GPI) anchor has...
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Homozygous R136S mutation in PRNP gene causes inherited early onset prion disease
BackgroundMore than 40 pathogenic heterozygous PRNP mutations causing inherited prion diseases have been identified to date. Recessive inherited...
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Diagnosis of Prion Disease: Conventional Approaches
Prion diseases are characterized by the deposition of PrPSc, an abnormal form of the normal cellular protein, PrPc in the brain. The unique nature of...
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Gerstmann-Sträussler-Scheinker disease revisited: accumulation of covalently-linked multimers of internal prion protein fragments
Despite their phenotypic heterogeneity, most human prion diseases belong to two broadly defined groups: Creutzfeldt-Jakob disease (CJD) and...
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Genetic Prion Disease: Insight from the Features and Experience of China National Surveillance for Creutzfeldt-Jakob Disease
Human genetic prion diseases (gPrDs) are directly associated with mutations and insertions in the PRNP (Prion Protein) gene. We collected and...
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Glycoform-Selective Prions in Sporadic and Genetic Variably Protease-Sensitive Prionopathies
Unlike other human prion diseases, including the most common Creutzfeldt–Jakob disease (CJD), variably protease-sensitive prionopathy (VPSPr) is...
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Transmissible Spongiform Encephalopathy: From Its Beginnings to Daniel Carleton Gajdusek
Scrapie was the original member of what has become a family of both animal and human spongiform encephalopathies. Described clearly in the eighteenth...
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Slow Virus and Prion Diseases
Slow virus diseases are a large group of related neurodegenerative conditions which affect both humans and animals. The diseases are caused by a...
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Risk of Transmission of Creutzfeldt–Jakob Disease by Blood Transfusion
Early epidemiological studies on sporadic Creutzfeldt–Jakob disease (CJD) did not identify blood transfusion as a risk factor for the disease....
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Prion Strain Interference
Prions are transmissible agents comprised of a misfolded protein PrPSc that is post-translationally derived from the normal isoform PrPC. Prion...
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Human Prion Disease Surveillance
Human prion diseases are characterized by rapid fatal neurodegeneration caused by pathologic prion proteins that are transmissible under specific...
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Human Sporadic Prion Diseases
Sporadic or idiopathic prion diseases account for over 90% of all human prion diseases, and sporadic Creutzfeldt–Jakob disease (sCJD) is by far the...
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Disease-Associated Q159X Mutant Prion Protein Is Sufficient to Cause Fatal Degenerative Disease in Mice
PRNP Q160X is one of the five dominantly inheritable nonsense mutations causing familial prion diseases. Till now, it remains unclear how this type...
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Role of different recombinant PrP substrates in the diagnostic accuracy of the CSF RT-QuIC assay in Creutzfeldt-Jakob disease
The development of the real-time quaking-induced conversion (RT-QuIC), an in vitro protein misfolding amplification assay, was an innovation in the...
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Detection of tau in Gerstmann-Sträussler-Scheinker disease (PRNP F198S) by [18F]Flortaucipir PET
This study aimed to determine the pattern of [ 18 F]flortaucipir uptake in individuals affected by Gerstmann-Sträussler-Scheinker disease (GSS)...
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Gene Therapy Strategies for Prophylactic and Therapeutic Treatments of Human Prion Diseases
Prion disease is a diverse family of fatal and usually transmissible and progressive neurodegenerative diseases that strike humans and many other...
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Stem Cell Models in Prion Research
Stem cells have the capacity to differentiate into the mature cells of any organ within the body. For this reason, they offer an interesting...
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Real-Time Quaking-Induced Conversion (QuIC) Assays for the Detection and Diagnosis of Human Prion Diseases
The seeding activity of prions has been exploited for the development of ultrasensitive assays for prion diseases. Among the more practical are...