|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The glutamate (E)-to-lysine (K) substitution at codon 200 (E200K) in PRNP is the most common pathogenic mutation causing fCJD, but the E200K pathogenic mutation alone is regarded insufficient to cause prion diseases; thus, additional unidentified factors are proposed to explain the penetrance of E200K-dependent fCJD.
|
25149502 |
2014 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The D178N mutation of the prion protein (PrP) results in the hereditary prion disease fatal familial insomnia (FFI).
|
25281825 |
2014 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We next looked into brain samples from E200K patients and found that both PK resistant PrPs, PrP(ST) as in TgMHu2ME199K mice, and "classical" PrP(Sc) as in infectious prion diseases, coincide in the patient's post mortem brains.
|
23922744 |
2013 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia (FFI) is a special subtype of genetic human prion diseases that is caused by the D178N mutation of the prion protein gene (PRNP).
|
23430483 |
2013 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
The EEG of our E200K fCJD patients appears similar to that of the largest prion disease patient group, sporadic CJD (sCJD).
|
21833705 |
2012 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker (GSS) P102L disease is a familial form of a transmissible spongiform encephalopathy (TSE) that can present with or without vacuolation of neuropil.
|
21645162 |
2012 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Our findings enlarge the spectrum of conformational allelic PrP(Sc) quasispecies propagating in GSS P102L thus providing a molecular support to the spectrum of disease phenotypes, and, in addition, impact the diagnostic role of PrP immunohistochemistry in prion diseases.
|
22384235 |
2012 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
In this study we generated prion protein fragment 90-231 bearing mutations identified in familial prion diseases (D202N and E200K), to analyze their role in the induction of a neurotoxic conformation.
|
21094273 |
2011 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
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 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease Pro102Leu (GSS102) is a rare autosomal dominant inherited prion disease due to a substitution of proline for leucine at codon 102 in the Prion Protein gene, and characterized by early walking difficulties and much later occurring dementia.
|
21167505 |
2011 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Eighty-three percent of TSE cases were sporadic CJD; 17% were genetic, mainly E200K (15.6%); the remaining 1.4% included an octarepeat insertion and two Gerstmann-Sträussler-Scheinker cases (P102L).
|
22067221 |
2011 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Transmissible spongiform encephalopathies with P102L mutation of PRNP manifesting different phenotypes: clinical, neuroimaging, and electrophysiological studies in Chinese kindred in Taiwan.
|
19696976 |
2010 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Coexistent amyloid beta (Abeta) plaques have been reported in some transmissible spongiform encephalopathies but to date have not been reported in familial CJD with the E200K mutation.
|
19822779 |
2009 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic heterogeneity and genetic modification of P102L inherited prion disease in an international series.
|
18757886 |
2008 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Ataxia is a frequently reported symptom in prion diseases (PD) and it is characteristic of Gerstmann-Sträussler-Scheinker syndrome (GSS), a genetic PD mainly related to the P102L mutation in the PRNP gene.
|
18566986 |
2008 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS).
|
16598479 |
2006 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Eight patients with prion diseases were examined: three with sporadic Creutzfeldt-Jakob disease (sCJD), two with dural graft associated CJD (dCJD), one with Gerstmann-Straussler-Scheinker disease (GSS) with a PrP P102L mutation (GSS102), and two with a P105L mutation (GSS105).
|
15716520 |
2005 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Twelve apparently unrelated FFI and fCJD pedigrees with the characteristic D178N mutation have been reported in the Prion Diseases Registry of the Basque Country since 1993.
|
15806397 |
2005 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Phenotypic variability in familial prion diseases due to the D178N mutation.
|
16227536 |
2005 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Here we report that this peptide-induced disease can be serially passaged in Tg196 mice and that the PrP conformers accompanying disease progression are conformationally indistinguishable from MoPrP(Sc)(P101L) found in Tg2866 mice developing spontaneous prion disease</span>.
|
14747574 |
2004 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Fatal familial insomnia (FFI) is a prion disease exhibiting the PRNP D178N/129M genotype.
|
15311348 |
2004 |
|
rs74315401
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) is a hereditary transmissible spongiform encephalopathy associated with prion protein gene mutation P102L.
|
12682740 |
2003 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Familial fatal insomnia (FFI)--a hereditary prion disease caused by a mutation at codon 178 of the prion-protein (PrP) gene (PRNP) that leads to a D178N substitution in the protein--and its sporadic form, sporadic fatal insomnia (SFI), have similar disease phenotypes.
|
12849238 |
2003 |
|
rs74315403
|
|
|
0.800 |
GeneticVariation |
BEFREE |
We provide evidence that hereditary and apparently sporadic transmissible spongiform encephalopathy cases associated with the D178N mutation result from multiple recurrent mutational events.
|
12205650 |
2002 |
|
rs28933385
|
|
|
0.800 |
GeneticVariation |
BEFREE |
Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is the most prevalent of the inherited prion diseases.
|
11259483 |
2001 |