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rs104893878
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0.100 |
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.
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15033366 |
2004 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Herein, we present a series of atomistic molecular dynamics simulations of wild-type alpha-synuclein and three Parkinson disease familial mutants (A30P, A53T, and E46K) in two distinct environments.
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19126542 |
2009 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two missense mutations of the alpha-synuclein (alpha-syn; A30P and A53T) have been described in several families with an autosomal dominant form of PD. alpha-Syn also constitutes one of the main components of Lewy bodies in sporadic cases of PD.
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12122208 |
2002 |
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rs104893878
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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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0.100 |
GeneticVariation |
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
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12719631 |
2003 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two mutants of human alpha-synuclein (A53T and A30P) have been linked to early-onset, familial PD.
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10978144 |
2000 |
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rs104893878
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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).
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22719003 |
2012 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two missense mutations (A53T and A30P) in the gene encoding the presynaptic protein alpha-synuclein (asyn) are associated with rare, dominantly inherited forms of Parkinson's disease (PD) and its accumulation in Lewy bodies and Lewy neurites.
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16908976 |
2004 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Trehalose-induced autophagy enhanced the clearance of autophagy substrates like mutant huntingtin and the A30P and A53T mutants of alpha-synuclein, associated with Huntington disease (HD) and Parkinson disease (PD), respectively.
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17182613 |
2007 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disease.
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15099020 |
2004 |
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rs104893878
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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.
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25393002 |
2014 |
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rs104893878
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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.
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18353766 |
2008 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two point mutations in alpha-synuclein (A53T and A30P) are identified in few families with dominantly inherited PD.
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11852183 |
2002 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.
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9862427 |
1998 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Further, A30P α-synuclein, a Parkinson disease mutant that disrupts protein folding, is also deficient in this activity.
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23184946 |
2013 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Three point mutations (A30P, E46K, and A53T) as well as gene triplication genetically link the 140-residue protein alpha-synuclein (aS) to the development of Parkinson disease.
|
16166095 |
2005 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Here we demonstrate that wild type and two mutant forms of alpha-synuclein linked to familial Parkinson's disease (Ala30 --> Pro and Ala53 --> Thr) self-aggregate and assemble into 10-19-nm-wide filaments with distinct morphologies under defined in vitro conditions.
|
10075647 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two substitution mutations (A53T and A30P) in alpha-synuclein gene have been identified in familial early-onset PD.
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15122920 |
2004 |
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rs104893878
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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
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0.100 |
GeneticVariation |
BEFREE |
Two mutations in the protein alpha-synuclein (A30P and A53T) are linked to an autosomal dominant form of Parkinson's disease.
|
11926821 |
2002 |
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rs104893878
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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.
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21767644 |
2011 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
The Parkinson's disease-associated human mutant [A30P]alphaSYN was found to colocalize with betaSYN and synaptophysin in synapses of transgenic mouse brain.
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10964942 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
DNA encoding the A30P mutant of human alpha-syn linked to familial PD was incorporated into an adeno-associated virus vector, which was injected into the adult rat midbrain.
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11916484 |
2002 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Mutations in alpha-synuclein (A53T, A30P) and parkin cause familial Parkinson disease.
|
11590439 |
2001 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Here we have investigated the solubility of SYNs in human LB diseases and in transgenic mice expressing human wild-type and PD-associated mutant [A30P]alpha-SYN driven by the brain neuron-specific promoter, Thy1.
|
11733371 |
2001 |