|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP).
|
27341347 |
2016 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
Interestingly, type of prion disease (sporadic vs. genetic) and the PRNP mutation (E200K vs. V210I and FFI), codon 129 genotype, and PrP(Sc) type affected RT-QuIC response.
|
24809690 |
2015 |
|
Prion Diseases
|
|
0.800 |
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
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 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
We used a cell model to study biosynthesis and processing of PrP(M) carrying the glutamic acid to lysine substitution at residue 200 (E200K), which is linked to the most common inherited human prion disease.
|
10934164 |
2000 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
The present structural data strongly suggest that protein surface defects leading to abnormalities in the interaction of prion protein with auxiliary proteins/chaperones or cellular membranes should be considered key determinants of a spontaneous PrP(C) --> PrP(Sc) conversion in the E200K form of hereditary prion disease.
|
10954699 |
2000 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation.
|
10483920 |
1999 |
|
Prion Diseases
|
|
0.800 |
GeneticVariation
|
BEFREE |
These data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner.
|
8529127 |
1995 |
|
Prion Diseases
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|