PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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