|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This study reports a novel p.S17G mutation in a clinically diagnosed LOAD patient, suggesting that the PRNP mutation is present in Chinese AD patients, whereas, M129V polymorphism is not a risk factor for AD or FTD in the Chinese Han population.
|
27910931 |
2016 |
|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The association between the methionine/valine (M/V) polymorphism (rs1799990) in the PRNP gene and the risk of Alzheimer disease: an update by meta-analysis.
|
23399523 |
2013 |
|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
By Western blotting, we found that PrP(C) overexpression down-regulated tau protein and Aβ oligomer binding alleviated the tau reduction induced by wild type but not M128V PrP(C), the high AD risk polymorphic allele in human prion gene.
|
23805846 |
2013 |
|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
To determine whether M129V polymorphism is a risk factor for AD we analyzed a group of early-onset, and late-onset Polish AD patients.
|
16897605 |
2006 |
|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Is M129V of PRNP gene associated with Alzheimer's disease? A case-control study and a meta-analysis.
|
16099550 |
2006 |
|
rs1799990
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The authors investigated the PRNP Met129Val polymorphism in 1,393 subjects including 482 patients with Alzheimer disease (AD) and two independent control groups.
|
15277640 |
2004 |
|
rs74315408
|
|
|
0.010 |
GeneticVariation |
BEFREE |
<b>Background:</b> In this study, a known <i>PRNP</i> mutation, Val180Ile (c.G538A), was reported in a 58 years old female patient, clinically diagnosed with Alzheimer's disease (AD).
|
31410005 |
2019 |
|
rs62643364
|
|
|
0.010 |
GeneticVariation |
BEFREE |
One of the mutant forms of alpha-synuclein (A53T) fibrillizes more rapidly in vitro than does the wild-type protein, suggesting that a correlation may exist between the rate of in vitro fibrillization and/or oligomerization and the progression of PD, analogous to the relationship between Abeta fibrillization in vitro and familial AD.
|
10704204 |
2000 |