|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
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 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
A point mutation F198S is responsible for the development of a rare inherited Gerstmann-Straussler-Scheinker disease caused by the aggregation of PrP<sup>C</sup>.
|
31207327 |
2019 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
A 16 kDa thermolysin-resistant signature was also found in GSS patients with P102L, A117V, H187R and F198S alleles and has coordinates similar to GSS stop codon mutations.
|
29338055 |
2018 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
The topography of uptake in PRNP F198S GSS is strikingly different from that seen in AD.
|
30373672 |
2018 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
We show that GSS with P102L, A117V and F198S mutations transmit efficiently and produce distinct pathological phenotypes in bank voles (M. glareolus), irrespective of the presence of 21 kDa PrP(res) in the inoculum, demonstrating that GSS is a genuine prion disease characterized by both transmissibility and strain variation.
|
26841849 |
2016 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Conformational diversity in prion protein variants influences intermolecular beta-sheet formation.
|
19927125 |
2010 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
A new PRNP mutation (G131V) associated with Gerstmann-Sträussler-Scheinker disease.
|
11709001 |
2001 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
Purified GSS amyloid is composed primarily of approximately 7-kd PrP peptides, whose N terminus corresponds to residues W(81) and G(88) to G(90) in patients with the A117V mutation and to residue W(81) in patients with the F198S mutation.
|
11395398 |
2001 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Novel PRNP sequence variant associated with familial encephalopathy.
|
10581485 |
1999 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Phenotypic variability of Gerstmann-Sträussler-Scheinker disease is associated with prion protein heterogeneity.
|
9786248 |
1998 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
Neuropsychological function in patients with Gerstmann-Sträussler-Scheinker disease from the Indiana kindred (F198S).
|
9126858 |
1997 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
BEFREE |
A GSS disease variant with mutation at codon 198 (F198S) has been studied in a large Indiana kindred.
|
8939199 |
1996 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Polymorphism at codon 129 or codon 219 of PRNP and clinical heterogeneity in a previously unreported family with Gerstmann-Sträussler-Scheinker disease (PrP-P102L mutation).
|
8797472 |
1996 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Gerstmann-Sträussler-Scheinker disease with mutation at codon 102 and methionine at codon 129 of PRNP in previously unreported patients.
|
7783876 |
1995 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
A variant of Gerstmann-Sträussler-Scheinker disease carrying codon 105 mutation with codon 129 polymorphism of the prion protein gene: a clinicopathological study.
|
7699395 |
1994 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease.
|
7902972 |
1993 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism.
|
1439789 |
1992 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles.
|
1363810 |
1992 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.880 |
GeneticVariation
|
UNIPROT |
Linkage of a prion protein missense variant to Gerstmann-Sträussler syndrome.
|
2564168 |
1989 |
|
rs74315405
|
|
Gerstmann-Straussler-Scheinker Disease
|
C |
0.880 |
CausalMutation
|
CLINVAR |
|
|
|