|
rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
We studied how reduced GCase activity affects α-synuclein (α-syn) and its mutants (A30P and A53T) aggregation, neurodegeneration, sleep and locomotor behavior in a fly model of PD.
|
29503608 |
2018 |
|
rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The cytotoxicity was significantly lower in SH-SY5Y-γ-syn cells, while transient overexpression of wt α-syn or its PD mutants (A30P and E46K, but not A53T) modestly (but still significantly) rescued the cytotoxicity of PA in SH-SY5Y and T98G cells.
|
29713567 |
2018 |
|
rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
The fruit fly Drosophila melanogaster, expressing human alpha-synuclein protein or its mutant, A30P, captures several hallmarks of PD and has been successfully used to model PD in numerous studies.
|
24879013 |
2014 |
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rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Further, A30P α-synuclein, a Parkinson disease mutant that disrupts protein folding, is also deficient in this activity.
|
23184946 |
2013 |
|
rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Among familial forms of PD, a small fraction is caused by missense (A53T, A30P and E46K) and copy number mutations in SNCA which encodes alpha-synuclein, a primary protein constituent of Lewy bodies, the pathognomonic protein aggregates found in neurons in PD.
|
20106867 |
2010 |
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rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Two mutations in the alpha-Syn gene (Ala53--> Thr and Ala30--> Pro) occur in autosomal dominant familial Parkinson's disease.
|
16399671 |
2006 |
|
rs531523381
|
|
|
0.080 |
GeneticVariation |
BEFREE |
Here, we report that all three naturally occurring synuclein isoforms (alpha, beta, and gamma-synuclein) are similarly effective inhibitors of PLD2 in vitro, as is the Parkinson's disease-associated mutant A30P.
|
15033366 |
2004 |
|
rs531523381
|
|
|
0.080 |
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 |