|
Lewy Body Disease
|
|
0.860 |
CausalMutation
|
CLINVAR |
|
|
|
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
|
9197268 |
1997 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
|
9462735 |
1998 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Recently, a third missense mutation (E46K) in alpha-synuclein was described in an inherited form of dementia with Lewy bodies.
|
15498564 |
2004 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
|
Parkinsonian Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies.
|
16001411 |
2005 |
|
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, Familial, Type 1
|
|
0.020 |
GeneticVariation
|
BEFREE |
Autosomal dominant Parkinson disease (PD) is caused by duplication or triplication of the alpha-synuclein gene as well as by the A30P, E46K, and A53T mutations.The mechanisms are unknown.
|
17012252 |
2006 |
|
Parkinson Disease
|
|
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.
|
17408955 |
2007 |
|
Parkinson Disease
|
|
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.
|
18808659 |
2008 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our results suggest that C-terminal-to-N-terminal contacts in alphaS are not strongly protective against aggregation, and that the dominant mechanism by which PD-linked mutations facilitate alphaS aggregation may be altering the physicochemical properties of the protein such as net charge (E46K) and secondary structure propensity (A30P and A53T).
|
19345692 |
2009 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three familial variants of the presynaptic protein alpha-synuclein (alphaS), A30P, E46K, and A53T, correlate with rare inherited Parkinson's disease (PD), while wild-type alphaS is implicated in sporadic PD.
|
20041693 |
2010 |
|
Parkinson Disease
|
|
0.100 |
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 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Altered ion channel formation by the Parkinson's-disease-linked E46K mutant of alpha-synuclein is corrected by GM3 but not by GM1 gangliosides.
|
20114052 |
2010 |
|
Channelopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
This E46K-associated channelopathy was no longer observed when GM3 was present in phosphatidylcholine bilayers.
|
20114052 |
2010 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three point mutants (A30P, A53T, and E46K) found in familial Parkinson disease also inhibited WPB exocytosis similar to that of wild-type alpha-synuclein.
|
20448034 |
2010 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutations in the gene for α-syn, including the E46K missense mutation, are sufficient to cause Parkinson disease as well as other synucleinopathies like dementia with LBs.
|
21846727 |
2011 |
|
Dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in the gene for α-syn, including the E46K missense mutation, are sufficient to cause Parkinson disease as well as other synucleinopathies like dementia with LBs.
|
21846727 |
2011 |
|
Presenile dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
Mutations in the gene for α-syn, including the E46K missense mutation, are sufficient to cause Parkinson disease as well as other synucleinopathies like dementia with LBs.
|
21846727 |
2011 |
|
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 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In this study, we created a BAC (bacterial artificial chromosome) transgenic rat model of PD expressing the E46K mutation of α-synuclein, which is pathogenic in humans.
|
23153578 |
2013 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel α-synuclein missense mutation in Parkinson disease.
|
23427326 |
2013 |