|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The study population included 477 CJD patients (266 with fCJD,145 with sporadic CJD (sCJD) and 66 patients of Libyan origin but negative family history) from the Israeli registry of CJD conducted since 1954.
|
31814268 |
2020 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Variably protease-sensitive prionopathy (VPSPr), a recently described human sporadic prion disease, features a protease-resistant, disease-related prion protein (resPrP<sup>D</sup>) displaying 5 fragments reminiscent of Gerstmann-Sträussler-Scheinker disease.
|
30561322 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here we have performed systematic studies of purified resPrP<sup>D</sup> species extracted from GSS cases with the A117V (GSS<sup>A117V</sup>) and F198S (GSS<sup>F198S</sup>) PrP gene mutations.
|
31142381 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Postmortem neuropathological examination showed widespread multicentric prion protein amyloid plaques characteristic of GSS.
|
31413052 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
There are three main groups of prion diseases, termed sporadic (Creutzfeldt-Jakob disease [CJD], sporadic fatal insomnia, and variably protease-sensitive prionopathy), genetic (genetic CJD, fatal familial insomnia, and Gerstmann-Straussler-Scheinker syndrome), and acquired (kuru, variant CJD, and iatrogenic CJD).
|
31533183 |
2019 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the Prion protein (PrP), encoded by the <i>PRNP</i> gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI).
|
31340582 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
To detect disease-associated prion protein (PrP<sup>Sc</sup> ) in the vagus nerve in different forms and molecular subtypes of Creutzfeldt-Jakob disease (CJD), we applied 3 different anti-PrP antibodies.
|
30801763 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Creutzfeldt-Jakob disease (CJD) is a rapidly progressive, fatal degenerative encephalopathy caused by a pathologically altered form of the prion protein (PrP).
|
30856268 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
While the structural characteristics of the disease-related proteinase K-resistant prion protein (resPrP<sup>D</sup>) associated with the CJD group are fairly well established, many features of GSS-associated resPrP<sup>D</sup> are unclear.
|
31142381 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Although there have been no reports of facial mimicry in patients with Creutzfeldt-Jakob disease (CJD), we encountered a patient with genetic CJD with prion protein gene codon 180 mutation (V180I gCJD) who apparently showed this interesting clinical finding.
|
31387445 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We encountered an autopsy case of sporadic Creutzfeldt-Jakob disease (CJD) pathologically classified as MM1+2C-type, where Western blot analysis of prion protein (PrP) mainly showed type-1 scrapie PrP (PrP<sup>Sc</sup> ) but also, partially, mixed type-2 PrP<sup>Sc</sup> .
|
31062411 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Misfolding and aggregation of the human prion protein (PrP) cause neurodegenerative transmissible spongiform encephalopathies such as Creutzfeldt-Jakob disease.
|
30935958 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Misfolded prion protein (PrP<sup>Sc</sup>) is known for its role in fatal neurodegenerative conditions, such as Creutzfeldt-Jakob disease.
|
31401689 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First European case of Creutzfeldt-Jakob disease with a PRNP G114V mutation.
|
30266397 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the Prion protein (PrP), encoded by the <i>PRNP</i> gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI).
|
31340582 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Infectious prions comprising abnormal prion protein, which is produced by structural conversion of normal prion protein, are responsible for transmissible spongiform encephalopathies including Creutzfeldt-Jakob disease in humans.
|
30753318 |
2019 |
|
Creutzfeldt-Jakob disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Misfolding and aggregation of prion protein (PrP) causes neurodegenerative diseases like Creutzfeldt-Jakob disease (CJD) and scrapie.
|
30792490 |
2019 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Inherited mutations in the Prion protein (PrP), encoded by the <i>PRNP</i> gene, have been associated with autosomal dominant neurodegenerative disorders, such as Creutzfeldt-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), and Fatal Familial Insomnia (FFI).
|
31340582 |
2019 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP).
|
31122137 |
2019 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Fatal Familial Insomnia
|
1.000 |
GeneticVariation
|
disease |
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 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To explore pathogenesis in a young Gerstmann-Sträussler-Scheinker Disease (GSS) patient, the corresponding mutation, an eight-residue duplication in the hydrophobic region (HR), was inserted into the wild type mouse PrP gene.
|
29338055 |
2018 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Further studies of CJD and GSS animal models with controlled genetic and proteomic features are needed to determine whether maternal CJD triggered via microchimerism by a GSS fetus might present a new PrPSc transmission route.
|
29889261 |
2018 |
|
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An in situ labeling using biotinylated Tat 48-57 peptide was employed in the brain tissue with amyloid deposits made up of Aβ (patients with AD and transgenic AD mice), of prion protein (patients with Gerstmann-Straussler-Scheinker disease), and other amyloidosis, processed by different fixations and pretreatments of histological sections.
|
29349578 |
2018 |