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rs104893878
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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.
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24879013 |
2014 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
In the current study, we demonstrate that the familial Parkinson's disease-linked A30P mutant alpha-Syn is defective in binding to phospholipid vesicles in vitro as determined by vesicle ultracentrifugation, circular dichroism spectroscopy, and low-angle X-ray diffraction.
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11812148 |
2002 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease.
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10934251 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
In contrast to the effect on alpha-synuclein [wild-type (WT)] levels, HO-1 over-expression did not significantly impact PD-associated alpha-synuclein (A30P) levels in these cells.
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19457084 |
2009 |
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rs104893878
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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
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0.100 |
GeneticVariation |
BEFREE |
Missense mutations (A53T or A30P) in the gene encoding alpha-syn are responsible for rare, inherited forms of PD.
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14535945 |
2003 |
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rs104893878
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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.
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14550771 |
2003 |
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rs104893878
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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
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0.100 |
GeneticVariation |
BEFREE |
Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies.
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15498564 |
2004 |
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rs104893878
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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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0.100 |
GeneticVariation |
BEFREE |
The G88C and G209A mutations do not seem to be the predominant genetic determinant of PD among Indians.
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11227130 |
2001 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.
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10567818 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
The Parkinson's disease-associated mutations have no effect on membrane interaction; however, the Ala-30 --> Pro mutation alters the three-dimensional conformation of alpha-synuclein, as measured by significantly increased fluorescence resonance energy transfer between the N and C termini.
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10722726 |
2000 |
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rs104893878
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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.
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10192768 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Three missense mutations (A30P, A53T and E46K) in the alpha-syn gene are associated with rare autosomal dominant forms of familial PD.
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18808659 |
2008 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
These effects of A30P mutation may explain the apparent conflict between the association of A30P with Parkinson disease and the slow fibrillization of A30P itself and therefore provide new insight into the molecular mechanisms of alpha-synucleinopathies.
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19164293 |
2009 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Implicated in neurotoxicity are two alphaSN mutants (A53T and A30P) that cause extremely rare familial forms of PD, alphaSN fibrils and protofibrils, soluble protein complexes of alphaSN with 14-3-3 protein, and phosphorylated, nitrosylated, and ubiquitylated alphaSN species.
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12814657 |
2003 |
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rs104893878
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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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0.100 |
GeneticVariation |
BEFREE |
Familial Parkinson disease (PD) due to the A30P mutation in the SNCA gene encoding alpha-synuclein is clinically associated with PD symptoms.
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20437567 |
2010 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
To better understand the pathogenic relationship between alterations in the biology of alpha-Syn and PD-associated neurodegeneration, we generated multiple lines of transgenic mice expressing high levels of either wild-type or familial PD-linked Ala-30 --> Pro (A30P) or Ala-53 --> Thr (A53T) human alpha-Syns.
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12084935 |
2002 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
We found that mutant forms of alpha-synuclein, either associated with Parkinson's disease (A30P or A53T) or mimicking defined serine, but not tyrosine, phosphorylation states exhibit reduced axonal transport following transfection into cultured neurons.
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14996933 |
2004 |
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rs104893878
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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.
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25363075 |
2015 |
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rs104893878
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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.
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28824465 |
2017 |
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rs104893878
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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.
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29713567 |
2018 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
We investigated alpha-synuclein mutations, causative for autosomal dominant forms of Parkinson's disease (A30P, A53T and E46K), and phosphorylation mutants at serine 129 (S129A and S129D) using fluorescently labelled alpha-synuclein, actin and tau.
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17408955 |
2007 |