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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The tea polyphenols are identified to protect against overexpression of mutant A30P α-synuclein (α-syn) induced DA neuron degeneration and PD-like symptoms in transgenic Drosophila.
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31426448 |
2019 |
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rs104893878
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|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Proteinaceous depositions of alpha-synuclein (α-syn) and its mutations, A30P and A53T, are one important characteristic of PD.
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29649746 |
2018 |
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rs104893878
|
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We next show that a well-known familial Parkinson's disease mutant (A30P) that is known to aggregate slowly via accumulation of highly toxic oligomeric species during the long lag phase converts into amyloid fibrils significantly faster in the presence of tau K18.
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29704492 |
2018 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Herein, we focused on assessing the effect of βS on the aggregation of five αS pathological mutants linked to early-onset PD (A30P, E46K, H50Q, G51D and A53T).
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29364143 |
2018 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Taken together, our results show that the (Thy-1)-h[A30P] alpha-synuclein transgenic mouse model displays early Parkinson's disease-related symptoms with a concomitant downregulation of the dopaminergic system.
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29541535 |
2018 |
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rs104893878
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Parkinson Disease
|
|
0.100 |
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 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Combining Raman spectroscopy with aggregation kinetics and transmission electron microscopy, we examined the effects of pH and ionic strength as well as four PD-related mutations (A30P, E46K, G51D, and A53T) on α-synuclein fibrils.
|
29191831 |
2018 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Therefore, in order to investigate a possible interaction between oxidative stress and α-synuclein aggregation in vivo, a transgenic model of PD with haplodeficiency for SOD2 was generated on the basis of the well-characterized murine (Thy-1)-h[A30P]-α-synuclein transgenic line.
|
29718367 |
2018 |
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rs104893878
|
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Parkinson Disease
|
|
0.100 |
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 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We hypothesized that vital PD modifier genes are conserved across species and would show unique transcriptional changes to oxidative stress in animals expressing a PD-associated gene, such as A30P.
|
29524599 |
2018 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The Kamikihito and Unkei-to recovered 60-min sleep bouts number in the A30P PD model flies to the level of young (5 days after eclosion) flies.
|
28824465 |
2017 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Point mutations (A53T, A30P) that increase the aggregation propensity of α-synuclein result in familial early onset PD.
|
26957304 |
2017 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this study, we found that both PGC-1α reference gene (RG-PGC-1α) and the central nervous system (CNS)-specific PGC-1α (CNS-PGC-1α) are downregulated in human PD brain, in A30P α-syn transgenic animals, and in a cell culture model for α-syn oligomerization.
|
25363075 |
2015 |
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rs104893878
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|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations of α-Syn, E46K, A53T, and A30P, have been linked to the familial form of PD.
|
25635052 |
2015 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found that familial mutants linked to PD (A30P, E46K, H50Q, G51D and A53T) exhibited identical propensities to oligomerize in living cells, but had distinct abilities to form inclusions.
|
25393002 |
2014 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
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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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In summary, this refined PD mouse model shows that A30P α-synuclein preferentially perturbs the dopaminergic system in the dorsal striatum, reflecting the region-specific change seen in PD.
|
24121116 |
2014 |
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rs104893878
|
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Further, A30P α-synuclein, a Parkinson disease mutant that disrupts protein folding, is also deficient in this activity.
|
23184946 |
2013 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Duplication, triplication or genetic mutations in α-syn (A53T, A30P and E46K) are linked to autosomal dominant PD; thus implicating its role in the pathogenesis of PD.
|
23936403 |
2013 |
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rs104893878
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Reductions in levels of conventional kinesin and cytoplasmic dynein subunits were recapitulated in a rat genetic Parkinson's disease model based on over-expression of human mutant α-synuclein (A30P).
|
22719003 |
2012 |
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rs104893878
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In contrast, point mutations in the central region of α-synuclein, referred to as nonamyloid β component (residues 61-95), as well as point mutations linked to Parkinson's disease (A30P, E46K, and A53T) increased the neurotoxicity of α-synuclein but did not affect its physiological function in SNARE-complex assembly.
|
23100443 |
2012 |
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rs104893878
|
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Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
α-Synuclein (α-syn) is a synaptic protein in which four mutations (A53T, A30P, E46K and gene triplication) have been found to cause an autosomal dominant form of Parkinson's disease (PD).
|
22701661 |
2012 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we generated a 'walk-through' series of RNA Pol III-expressed shRNAs targeting both the α-synuclein A30P and LRRK2 G2019S PD-associated mutations.
|
22031823 |
2011 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Olfactory neuron-specific expression of A30P α-synuclein exacerbates dopamine deficiency and hyperactivity in a novel conditional model of early Parkinson's disease stages.
|
21767644 |
2011 |
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rs104893878
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many data suggest that alpha synuclein (α-syn) aggregation is involved in Parkinson's disease (PD) neurotoxicity and is accelerated by the pathogenetic point mutation A30P.
|
21906659 |
2011 |