|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
123I-FP-CIT SPECT [(123) I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] Imaging in a p.A53T α-synuclein Parkinson's disease cohort versus Parkinson's disease.
|
30288781 |
2018 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
6, 348-357; Xun, Z. Y., Sowell, R. A., Kaufman, T. C., and Clemmer, D. E. (2007) Lifetime proteomic profiling of an A30P alpha-synuclein Drosophila model of Parkinson's disease.J. Proteome Res.
|
18353766 |
2008 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Parkinson disease mutant E46K enhances α-synuclein phosphorylation in mammalian cell lines, in yeast, and in vivo.
|
25657004 |
2015 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease.
|
16020550 |
2005 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A53T mutant α-synuclein-transfected cells (A53T AS cells) plus MPP<sup>+</sup> exposure were used as a complex cell model of PD.
|
28187263 |
2017 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A53T) are known to be directly associated with Parkinson's disease (PD).
|
28442946 |
2017 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A53T-α-synuclein overexpression in murine locus coeruleus induces Parkinson's disease-like pathology in neurons and glia.
|
29747690 |
2018 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A53T missense mutations in the SNCA gene has been proved to enhance the expression of SNCA and accelerate the onset of PD.
|
30080657 |
2018 |
|
rs104893875
|
|
|
0.100 |
GeneticVariation |
BEFREE |
E46K mutant α-synuclein is more degradation resistant and exhibits greater toxic effects than wild-type α-synuclein in Drosophila models of Parkinson's disease.
|
31242217 |
2019 |
|
rs356182
|
|
G |
0.740 |
GeneticVariation |
GWASCAT |
A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci.
|
28892059 |
2017 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A missense mutation of SNCA (A53T) was found in a familial PD with autosomal dominant inheritance.
|
18704525 |
2008 |
|
rs10014396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A number of SNCA variants, not including rs10014396 or rs3775439, were significantly associated with susceptibility to PD.
|
22912757 |
2012 |
|
rs3775439
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A number of SNCA variants, not including rs10014396 or rs3775439, were significantly associated with susceptibility to PD.
|
22912757 |
2012 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease.
|
16020550 |
2005 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.
|
10567818 |
1999 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Additionally, recent genetic studies based on linkage analysis and cosegregation of A53T and A30P missense mutations demonstrated that the alpha-synuclein gene may be responsible for the development of at least some cases of familial Parkinson's disease.
|
10192768 |
1999 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Additionally, the presence of PD-related human α-synuclein A53T mutant or dopamine transporter (DAT) blockers also differentially affects the dopamine output in striosomes and matrix.
|
28706191 |
2017 |
|
rs356219
|
|
|
0.900 |
GeneticVariation |
BEFREE |
Additionally, the SHEsis software platform was applied for linkage disequilibrium (LD) analysis between rs356182 and another PD-associated synuclein SNP rs356219 we previously reported.
|
27538639 |
2016 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Additionally, we show that either extract prolonged the survival of a PD fly model based on transgenic expression of the human α-syn A53T mutant.
|
27919712 |
2017 |
|
rs2736990
|
|
|
0.860 |
GeneticVariation |
BEFREE |
After narrowing down the variants using the <i>p</i> < 1 × 10<sup>-5</sup> cutoff, in overall populations, seven SNPs increased the risk of PD (rs2736990, rs356220, rs356165, rs181489, rs356219, rs11931074, and rs2737029, with odds ratios [ORs] of 1.22-1.38) and one SNP decreased the risk (rs356186, with an OR of 0.77).
|
30410434 |
2018 |
|
rs2737029
|
|
|
0.720 |
GeneticVariation |
BEFREE |
After narrowing down the variants using the <i>p</i> < 1 × 10<sup>-5</sup> cutoff, in overall populations, seven SNPs increased the risk of PD (rs2736990, rs356220, rs356165, rs181489, rs356219, rs11931074, and rs2737029, with odds ratios [ORs] of 1.22-1.38) and one SNP decreased the risk (rs356186, with an OR of 0.77).
|
30410434 |
2018 |
|
rs431905511
|
|
|
0.070 |
GeneticVariation |
BEFREE |
All three G51D cases had abundant α-synuclein pathology with characteristics of both PD and MSA.
|
26306801 |
2015 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Alpha-synuclein A53T transgenic mouse (A53T) is an essential tool to investigate the onsets and the extents of PD non-motor symptoms.
|
29218419 |
2018 |
|
rs104893877
|
|
|
0.100 |
GeneticVariation |
BEFREE |
alpha-Synuclein accumulates in Lewy bodies and two missense mutations, A30P and A53T, have been linked to familial Parkinson's disease.
|
12727333 |
2003 |
|
rs104893878
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Alpha-synuclein and its missense mutants (A30P, A53T) have been linked to the genesis of idiopathic and rare familial forms of Parkinson's disease, respectively.
|
14550771 |
2003 |