|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
|
9462735 |
1998 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.
|
25561023 |
2015 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.
|
24936070 |
2014 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
|
9197268 |
1997 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel α-synuclein missense mutation in Parkinson disease.
|
23427326 |
2013 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
|
23457019 |
2013 |
|
Parkinson Disease
|
|
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.
|
15033366 |
2004 |
|
Parkinson Disease
|
|
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.
|
19126542 |
2009 |
|
Parkinson Disease
|
|
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.
|
12122208 |
2002 |
|
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.
|
29649746 |
2018 |
|
Parkinson Disease
|
|
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].
|
12719631 |
2003 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two mutants of human alpha-synuclein (A53T and A30P) have been linked to early-onset, familial PD.
|
10978144 |
2000 |
|
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 |
|
Parkinson Disease
|
|
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.
|
16908976 |
2004 |
|
Parkinson Disease
|
|
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.
|
17182613 |
2007 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutation A30P in the alpha-synuclein gene is a cause of familial Parkinson disease.
|
15099020 |
2004 |
|
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 |
|
Parkinson Disease
|
|
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.
|
18353766 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two point mutations in alpha-synuclein (A53T and A30P) are identified in few families with dominantly inherited PD.
|
11852183 |
2002 |
|
Parkinson Disease
|
|
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.
|
9862427 |
1998 |
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
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 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Two substitution mutations (A53T and A30P) in alpha-synuclein gene have been identified in familial early-onset PD.
|
15122920 |
2004 |