|
Prion Diseases
|
0.500 |
AlteredExpression
|
group |
BEFREE |
Moreover, proteinase K-resistant Prion protein was frequently detected in pituitary samples of the prion diseases.
|
31504701 |
2019 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
A variant of prion encephalopathy associated with the novel H187R mutation in the PRNP gene displays distinctive clinical and immunostaining characteristics that further expand the boundaries of human prion disease.
|
10953183 |
2000 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Prion disease or transmissible spongiform encephalopathies are characterized by the presence of the abnormal form of the prion protein (PrP<sup>Sc</sup>).
|
28838671 |
2017 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The delayed onset of CJD has complicated the analysis of inherited forms of the illness and led to the suggestion that mutations in the prion protein (PrP) gene are necessary but not sufficient for prion disease despite genetic linkage; indeed, an environmental factor such as a ubiquitous virus has been proposed as a second necessary factor.
|
8529127 |
1995 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Prion diseases such as bovine spongiform encephalopathy in cattle and Creutzfeldt-Jakob disease in humans are associated with the misfolding and accumulation of an abnormal conformation of the host-encoded prion protein (PrP).
|
17944867 |
2007 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
We have compared the immunomorphological spectrum of the deposition of the disease-associated prion protein (PrP(Sc)) in the cerebral and cerebellar cortex of 32 Creutzfeldt-Jakob disease (CJD) patients with the PrP gene (PRNP) E200K mutation to 45 sporadic CJD and 14 other genetic prion disease cases.
|
12677444 |
2003 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Insertions of integral numbers of an octapeptide repeat in the prion protein gene are pathogenic mutations associated with inherited prion diseases.
|
11468331 |
2001 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Spontaneous mutations in the prion protein gene causing transmissible spongiform encephalopathy.
|
12205650 |
2002 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
As amyloid formation is a key hallmark in prion pathogenesis, studying which segments in prion protein are involved in the amyloid formation can provide molecular details in the cross-species transmission barrier of prion diseases.
|
30603982 |
2019 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Variant Creutzfeldt-Jakob disease (vCJD) is a novel acquired human prion disease resulting from human exposure to the agent causing bovine spongiform encephalopathy (BSE). vCJD differs from all other human prion diseases in that the disease-associated form of the prion protein and infectivity are present in lymphoid tissues throughout the body.
|
12871283 |
2003 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
In addition, investigations of hereditary CJD and FFI have provided plausible mechanisms of phenotypic heterogeneity in prion disease, a phenomenon analogous to the "prion strain" diversity in animal prion disease.
|
12733424 |
2003 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Prion protein (PrP), encoded by the prion protein gene (PRNP), is fundamental in the pathogenesis of transmissible spongiform encephalopathies.
|
28545018 |
2017 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Prion propagation in transmissible spongiform encephalopathies involves the conversion of the cellular prion protein, PrPC, into the pathogenic conformer PrPSc.
|
20806222 |
2010 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
To investigate the role of a short insertional mutation in the prion protein (PrP) gene (PRNP) in prion disease pathogenesis.
|
10932276 |
2000 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
The aggregation of the prion protein (PrP) plays a key role in the development of prion diseases.
|
31123569 |
2019 |
|
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Fatal familial insomnia is a prion disease with a mutation in codon 178 of the PrP gene, but the disease phenotype seems to differ from that of previously described kindreds with the same point mutation.
|
1346338 |
1992 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Conformational change in the prion protein (PrP) is thought to be responsible for a group of rare but fatal neurodegenerative diseases of humans and other animals, including Creutzfeldt-Jakob disease and bovine spongiform encephalopathy.
|
19618915 |
2009 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Transmissible spongiform encephalopathies (TSEs) are neurodegenerative disorders caused by the presence of an infectious prion protein.
|
29087046 |
2018 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
As stated by the "protein-only hypothesis", the causal agent of TSEs is a self-propagating aberrant form of the prion protein (PrP) that through a misfolding event acquires a β-sheet rich conformation known as PrP(Sc) (from scrapie).
|
25907990 |
2015 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Detection of proteinase K-resistant prion protein (PrPSc) still represents the diagnostic gold standard for prion diseases in humans, sheep and cattle.
|
28207746 |
2017 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
One aspect of prion disease is the conversion of functional prion protein into an aggregated amyloid.
|
11470312 |
2001 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Cellular prion protein (PrP<sup>C</sup>) is a membrane-anchored glycoprotein representing the physiological counterpart of PrP scrapie (PrP<sup>Sc</sup>), which plays a pathogenetic role in prion diseases.
|
31752162 |
2019 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Conformational conversion of the cellular prion protein, PrP<sup>C</sup>, into the abnormally folded isoform of prion protein, PrP<sup>Sc</sup>, which leads to marked accumulation of PrP<sup>Sc</sup> in brains, is a key pathogenic event in prion diseases, a group of fatal neurodegenerative disorders caused by prions.
|
29099278 |
2017 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Using lentivirally mediated RNA interference (RNAi) against native prion protein (PrP), White et al. report the first therapeutic intervention that results in neuronal rescue, prevents symptoms and increases survival in mice with established prion disease.
|
19597349 |
2010 |
|
Prion Diseases
|
0.500 |
Biomarker
|
group |
BEFREE |
Transmissible spongiform encephalopathy is associated with misfolding of prion protein (PrP) into an amyloid β-rich aggregate.
|
29645399 |
2018 |