rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
|
15144854 |
2004 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
The clinical characteristics of 15 patients with PD living in Greece with the Ala53Thr alpha-synuclein mutation (alpha-synPD) were compared with patients with sporadic Parkinson's disease (sPD).
|
11309462 |
2001 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
2020 |
rs104893877
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau.
|
28416701 |
2017 |
rs11931074
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We evaluated the association between SNCA single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs - rs2583988, rs356219, rs2736990, and rs11931074) and PD risk in a Brazilians sample.
|
28676755 |
2017 |
rs2736990
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further, the G-rs356219 and C-rs2736990 alleles were associated with early onset PD.
|
28676755 |
2017 |
rs356182
|
|
|
0.010 |
GeneticVariation |
BEFREE |
SNCA rs356182 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.
|
27538639 |
2016 |
rs356219
|
|
|
0.020 |
GeneticVariation |
BEFREE |
SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.
|
23737253 |
2013 |
rs356219
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Further, the G-rs356219 and C-rs2736990 alleles were associated with early onset PD.
|
28676755 |
2017 |