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 |
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 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The topography of uptake in PRNP F198S GSS is strikingly different from that seen in AD.
|
30373672 |
2018 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Specific amyloid-β42 deposition in the brain of a Gerstmann-Sträussler-Scheinker disease patient with a P105L mutation on the prion protein gene.
|
30394185 |
2018 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
An autopsy report of three kindred in a Gerstmann-Sträussler-Scheinker disease P105L family with a special reference to prion protein, tau, and beta-amyloid.
|
30240140 |
2018 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) with the P102L mutation in PRNP gene is characterized with progressive cerebellar dysfunction clinically and PrP<sup>Sc</sup> plaques neurologically.
|
29509064 |
2018 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
These were characterized biochemically and structurally, and the one partially sharing some of the GSS PrP<sup>Sc</sup> molecular features was inoculated into different animal models showing high infectivity.
|
28851967 |
2017 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
We analyzed 128 suitable frontal cortex samples, from prion-affected patients (variant Creutzfeldt-Jakob disease (vCJD) n = 20, iatrogenic CJD (iCJD) n = 11, sporadic CJD (sCJD) n = 23, familial CJD (gCJD) n = 17, fatal familial insomnia (FFI) n = 9, Gerstmann-Sträussler-Scheinker syndrome (GSS)) n = 4), patients with Alzheimer disease (AD, n = 14) and age-matched controls (n = 30).
|
29142239 |
2017 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gerstmann-Sträussler-Scheinker disease (GSS) is an inherited neurodegenerative disorder associated with mutations in the prion protein gene and accumulation of misfolded PrP with protease-resistant fragments (PrP(res)) of 6-8 kDa.
|
26841849 |
2016 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
First, common pathogenic mutations of the PRNP gene in Gerstmann-Sträussler-Scheinker (GSS) syndrome were clustered at PrP95-105.
|
26528810 |
2016 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Different PrP mutations cause different diseases, including Creutzfeldt-Jakob disease (CJD), Gerstmann-Sträussler-Scheinker (GSS) syndrome and fatal familial insomnia (FFI).
|
26864450 |
2016 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we report the detection of PrP(TSE) by PMCA in EVs from plasma of mice infected with Fukuoka-1 (FU), an isolate from a Gerstmann-Sträussler-Scheinker disease patient.
|
27499183 |
2016 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
These disorders include Creutzfeld-Jacob disease (CJD), Gerstmann-Sträussler-Scheinker syndrome (GSS), kuru, fatal insomnia (FI), and variable protease-sensitive prionopathy (VPSPr), all of which involve a conformational change of the normal cellular prion protein (PrPC) into the abnormal scrapie prion protein (PrPSc) through a posttranslational process during which PrPc acquires high β-sheet content.
|
26592824 |
2015 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A proline to leucine substitution at PrP residue 102 (P102L) is classically associated with Gerstmann-Sträussler-Scheinker (GSS) disease but shows marked clinical and neuropathological variability within kindreds that may be caused by variable propagation of distinct prion strains generated from either PrP 102L or wild type PrP.
|
26135918 |
2015 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
The accumulation of PrPSc in cells persistently infected with the prion strain Fukuoka-1 (FK), derived from a patient with Gerstmann-Sträussler-Scheinker syndrome, was significantly increased in cultures treated with the macroautophagy inhibitor 3-methyladenine (3MA) but substantially reduced in those treated with the macroautophagy inducer rapamycin.
|
26368533 |
2015 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
Biomarker
|
disease |
BEFREE |
Nonsynonymous mutations in the human prion protein (HuPrP) gene contribute to the conversion of HuPrP(C) to HuPrP(Sc) and amyloid formation which in turn leads to prion diseases such as familial Creutzfeldt-Jakob disease and Gerstmann-Straussler-Scheinker disease.
|
23527686 |
2014 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
To describe a unique case of Gerstmann-Straüssler-Scheinker (GSS) disease caused by a novel prion protein (PRNP) gene mutation and associated with strongly positive voltage-gated potassium channel (VGKC)-complex antibodies (Abs).
|
24814844 |
2014 |
Gerstmann-Straussler-Scheinker Disease
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Several families affected by GSS with patients carrying mutations in the prion protein gene have been described worldwide.
|
23944754 |
2014 |