Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Prion diseases are progressive chronic neurodegenerative disorders associated with the accumulation of the scrapie prion protein PrP<sup>Sc</sup>, a misfolded conformer of the cellular prion protein PrP<sup>C</sup>.
|
28690540 |
2017 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Missense mutations in the human Prnp gene cause inherited prion diseases such as familial Creutzfeldt-Jakob disease.
|
11574147 |
2001 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
The C-terminally truncated Y145Stop variant of prion protein (PrP23-144), which is associated with heritable PrP cerebral amyloid angiopathy in humans and also capable of triggering a transmissible prion disease in mice, serves as a useful in vitro model for investigating the molecular and structural basis of amyloid strains and cross-seeding specificities.
|
29679649 |
2019 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Prion diseases are fatal neurodegenerative disorders related to the conformational alteration of the prion protein (PrP C) into a pathogenic and protease-resistant isoform (PrPSc).
|
31371089 |
2019 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Mutations in the protein coding region of the human PrP gene (PRNP), which have been proposed to alter the stability of the PrP protein, have been linked to a number of forms of TSE.
|
12034503 |
2002 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Novel strain properties distinguishing sporadic prion diseases sharing prion protein genotype and prion type.
|
28091514 |
2017 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Spontaneous generation of prions in genetic prion diseases is caused by mutations in the human prion protein gene (PRNP).
|
28838676 |
2017 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
PrP(c) is encoded by the prion protein gene, and a common polymorphism at codon 129 of this gene is a determinant of susceptibility to acquired and sporadic prion diseases but not for sporadic AD.
|
12399017 |
2002 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Here, we describe a patient with a PRNP P105T mutation and typical familial prion disease.
|
20875062 |
2011 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Amino acids that differentiate ovine and deer normal host prion protein (PrP<sup>C</sup>) and associated with structural rigidity of the loop β2-α2 (S173N, N177T) appear to confer resistance to some prion diseases.
|
30592012 |
2019 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Two Creutzfeldt-Jakob disease-associated PrP mutants, PrP T188K and PrP T188R, revealed a secretory pathway to the cell membrane and PrP(Sc)-like properties, i.e. enhanced proteinase K resistance and detergent insolubility similar to other mutant PrPs associated with familial prion diseases.
|
11756421 |
2002 |
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 |
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 |
GeneticVariation
|
group |
GWASDB |
Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP.
|
22210626 |
2012 |
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 |
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 |
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 |
GeneticVariation
|
group |
LHGDN |
Our study reveals that formation of the 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.
|
15591591 |
2005 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Here we introduce several PRNP gene mutations (such as, PrP-KDEL, PrP-3AV, PrP-A117V, PrP-G114V, PrP-P102L and PrP-E200K) into the cultured cells in order to explore the pathogenic mechanism of familial prion disease.
|
21298055 |
2011 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
BEFREE |
Compared to ND, t-PrP concentrations were significantly decreased in sCJD, iCJD and in genetic prion diseases associated with the three most common mutations E200K, V210I (associated with genetic CJD) and D178N-129M (associated with fatal familial insomnia).
|
30062673 |
2019 |
Prion Diseases
|
0.500 |
GeneticVariation
|
group |
LHGDN |
Aggresome formation by mutant prion proteins: the unfolding role of proteasomes in familial prion disorders.
|
12590162 |
2003 |