|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mouse or hamster PrP harbouring an FFI (D178N) or fCJD (E200K) mutation showed mild Proteinase K resistance when expressed in <i>Drosophila</i> Adult <i>Drosophila</i> transgenic for FFI or fCJD variants of mouse or hamster PrP displayed a spontaneous decline in locomotor ability that increased in severity as the flies aged.
|
28814578 |
2017 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
In conclusion, we report unique pathological sleep patterns in early fCJD associated with the E200K mutation.
|
27251902 |
2016 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.
|
26806765 |
2016 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
|
25522698 |
2015 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
These definite and characteristic sleep pathologies in patients with fCJD associated with the E200K mutation may serve as a new diagnostic tool in the disease.
|
25451855 |
2015 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study investigates whether posttranslational modifications of cellular prion protein (PrP(C)) in the cerebrospinal fluid (CSF) of humans with prion diseases are associated with methionine (M) and/or valine (V) polymorphism at codon 129 of the prion protein gene (PRNP), scrapie prion protein (PrP(Sc)) type in sporadic Creutzfeldt-Jakob disease (sCJD), or PRNP mutations in familial Creutzfeldt-Jakob disease (fCJD/E200K), and fatal familial insomnia (FFI).
|
24360565 |
2014 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our research provides a possible mechanism that involves a candidate protective factor; this could be exploited to prevent fCJD onset in individuals carrying E200K.
|
25149502 |
2014 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
EEG abnormalities in E200K fCJD appear to correlate mainly with cortical pathology, as revealed by DWI, rather than basal ganglia pathology.
|
21833705 |
2012 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
To gain insights into the molecular basis of these disorders, we performed 200 ns of classical molecular dynamic simulations in aqueous solution on wild type (WT) human PrP (HuPrP), and on three HuPrP variants located in the globular HuPrP domain: two pathological mutations, HuPrP(Q212P) and HuPrP(E200K), linked to GSS and to fCJD respectively, and one protective polymorphism, HuPrP(E219K) (total time-scale simulated 800 ns).
|
20806222 |
2010 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.
|
19822779 |
2009 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
The E200K mutation of the PRNP (prion protein) gene is the most common cause of familial Creutzfeldt-Jakob disease (fCJD), which has imaging and clinical features that are similar to the sporadic form.
|
18635614 |
2008 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
The pattern of PrP(Sc) deposition in the brains of Tg mice was similar to that caused by sCJD but different from that associated with fCJD(E200K) or FFI.
|
11756597 |
2001 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
To gain insight into the molecular basis of these disorders, the solution structure of the familial Creutzfeldt-Jakob disease-related E200K variant of human prion protein was determined by multi-dimensional nuclear magnetic resonance spectroscopy.
|
10954699 |
2000 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
A novel phenotype in familial Creutzfeldt-Jakob disease: prion protein gene E200K mutation coupled with valine at codon 129 and type 2 protease-resistant prion protein.
|
10360778 |
1999 |
|
Creutzfeldt-Jakob Disease, Familial
|
|
0.100 |
GeneticVariation
|
BEFREE |
We studied prion proteins (PrP) in skin and brains of Libyan Jews carrying the E200K mutation who died of familial Creutzfeldt-Jakob disease (CJD).
|
8564843 |
1996 |