|
rs267606980
|
|
|
0.030 |
GeneticVariation |
BEFREE |
A naturally occurring protective polymorphism G127V in human PrP has recently been found to greatly attenuate prion diseases, but the mechanism has remained elusive.
|
31821812 |
2020 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide.
|
30755683 |
2019 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker syndrome (GSS) with the P102L mutation is a rare genetic prion disease caused by a pathogenic mutation at codon 102 in the prion protein gene.
|
31397917 |
2019 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal Familial Insomnia (FFI) is a hereditary prion disease caused by a mutation at codon 178 of the prion-protein gene leading to a D178N substitution in the protein determining severe and selective atrophy of mediodorsal and anteroventral thalamic nuclei.
|
30890351 |
2019 |
|
rs80356710
|
|
|
0.730 |
GeneticVariation |
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 |
|
rs1178466848
|
|
|
0.010 |
GeneticVariation |
BEFREE |
So, the histopathological and biochemical profile associated with the V189I mutation was indistinguishable from the MM1/MV1 subtype of sporadic CJD.Our findings support a pathogenic role for the V189I PRNP variant, confirm the heterogeneity of the clinical phenotypes associated to PRNP mutations and highlight the importance of PrP<sup>Sc</sup> detection assays as diagnostic tools to unveil prion diseases presenting with atypical phenotypes.
|
30606247 |
2019 |
|
rs1292160648
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs1473972013
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide.
|
30755683 |
2019 |
|
rs767181086
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide.
|
30755683 |
2019 |
|
rs775144659
|
|
|
0.010 |
GeneticVariation |
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 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to nonprimarily neurodegenerative neurological and psychiatric diseases, NFL was also elevated in genetic prion diseases associated with the E200K, V210I, P102L, and D178N prion protein gene mutations.
|
29391125 |
2018 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Compared to nonprimarily neurodegenerative neurological and psychiatric diseases, NFL was also elevated in genetic prion diseases associated with the E200K, V210I, P102L, and D178N prion protein gene mutations.
|
29391125 |
2018 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The familial prion disease associated with the V180I PrP gene mutation which harbors an abnormal PrP with similar electrophoretic profile might serve as a model for VPSPr.
|
29887135 |
2018 |
|
rs74315408
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Valine-to-isoleucine substitution at codon 180 of the prion protein gene is only observed in patients with Creutzfeldt-Jakob disease and accounts for approximately half of all cases of genetic prion disease in Japan.
|
29382530 |
2018 |
|
rs267606980
|
|
|
0.030 |
GeneticVariation |
BEFREE |
This work is beneficial for understanding the molecular mechanisms underlying the complete resistance of the G127V mutant to prion disease and for developing new therapeutics for prion disease.
|
30181558 |
2018 |
|
rs398122414
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
|
29458424 |
2018 |
|
rs74315410
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Familial human prion diseases associated with prion protein mutations Y226X and G131V are transmissible to transgenic mice expressing human prion protein.
|
29458424 |
2018 |
|
rs768562045
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Thus, we illustrate the utility of harnessing multiple lines of prion disease-specific evidence in the evaluation of the T201S variant, which may be similarly applied to assess other novel variants in PRNP.
|
29861043 |
2018 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Additionally, increased YKL-40 levels were found in genetic prion diseases associated with the PRNP-D178N (Fatal Familial Insomnia) and PRNP-E200K mutations.
|
29126445 |
2017 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
While numerous proteins form fibrils by prion-like seeded polymerization <i>in vitro</i>, only some are transmissible and pathogenic <i>in vivo</i> To probe the structural features that confer transmissibility to prion protein (PrP) fibrils, we have analyzed synthetic PrP amyloids with or without the human prion disease-associated P102L mutation.
|
28835493 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele.
|
28324299 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Additionally, increased YKL-40 levels were found in genetic prion diseases associated with the PRNP-D178N (Fatal Familial Insomnia) and PRNP-E200K mutations.
|
29126445 |
2017 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia (FFI) linked to a D178N/129M haplotype mutation in the PRNP gene is the most common genetic prion disease in the Han Chinese population.
|
29245265 |
2017 |