|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, we report unique pathological sleep patterns in early fCJD associated with the E200K mutation.
|
27251902 |
2016 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Unusual presentations in patients with E200K familial Creutzfeldt-Jakob disease.
|
26806765 |
2016 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Familial Creutzfeldt-Jakob disease with the E200K mutation: longitudinal neuroimaging from asymptomatic to symptomatic CJD.
|
25522698 |
2015 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Codistribution of amyloid beta plaques and spongiform degeneration in familial Creutzfeldt-Jakob disease with the E200K-129M haplotype.
|
19822779 |
2009 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs28933385
|
|
|
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 |
|
rs74315408
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The clinical features of familial Creutzfeldt-Jakob disease (fCJD) with a mutation at codon 180 (V180I) are less typical than those of patients with sporadic CJD.
|
22999564 |
2013 |
|
rs74315408
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Familial Creutzfeldt-Jakob disease with V180I mutation.
|
20592908 |
2010 |
|
rs74315408
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Familial Creutzfeldt-Jakob disease with a V180I mutation: comparative analysis with pathological findings and diffusion-weighted images.
|
20051687 |
2009 |
|
rs74315403
|
|
|
0.030 |
GeneticVariation |
BEFREE |
One such mutation (Asp178 --> Asn) is associated with two distinct disorders: fatal familial insomnia or familial Creutzfeldt-Jakob disease, depending upon the presence of Met or Val at position 129, respectively.
|
16313190 |
2005 |
|
rs74315403
|
|
|
0.030 |
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
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Thus, the amino acid, methionine or valine, at position 129 of the mutant allele, in conjunction with D178N mutation results in significant alterations of PrPres in FFI and CJD178.
|
7767490 |
1995 |
|
rs74315409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
After 10 days of empirical treatment with antiviral agents, the patient was eventually diagnosed with fCJD with M232R mutation based on the results of positivity for 14-3-3 protein, CSF PrP<sup>sc</sup> in real-time quaking-induced conversion assay and genetic test for PRNP gene.
|
30910549 |
2019 |
|
rs74315409
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Point mutations M232R (PrP(232R)), M232T (PrP(232T)), and P238S (PrP(238S)) in the glycosylphosphatidylinositol signal peptide (GPI-SP) of the prion protein (PrP(C)) segregate with familial Creutzfeldt-Jakob disease (CJD).
|
18325785 |
2008 |
|
rs1800014
|
|
|
0.010 |
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 |
|
rs372878791
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report the clinical, neuropsychologic, imaging, genetic, and neuropathologic features of a patient with familial Creutzfeldt-Jakob disease, associated with a very rare PRNP mutation at T188R.
|
21107135 |
2010 |