|
Channelopathies
|
|
0.010 |
GeneticVariation
|
BEFREE |
This E46K-associated channelopathy was no longer observed when GM3 was present in phosphatidylcholine bilayers.
|
20114052 |
2010 |
|
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 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology.
|
24833599 |
2014 |
|
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 |
|
Lewy Body Disease
|
|
0.860 |
CausalMutation
|
CLINVAR |
|
|
|
|
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
|
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests.
|
31136022 |
2019 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan).
|
31178336 |
2019 |
|
Lewy Body Disease
|
|
0.860 |
GeneticVariation
|
BEFREE |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
|
Neurodegenerative Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Most aSyn mutations linked to neurodegenerative disease hindered neuronal survival in this model; of these mutations, the E46K mutation proved to be the most toxic.
|
28900007 |
2017 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Parkinson disease mutant E46K enhances α-synuclein phosphorylation in mammalian cell lines, in yeast, and in vivo.
|
25657004 |
2015 |
|
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 |
Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests.
|
31136022 |
2019 |
|
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 |
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 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Our findings add new insight into the preexisting information about α-synuclein p.E46K, improving our understanding about the endophenotypes associated to this mutation and corroborate that missense alterations and multiplications in α-synuclein are uncommon among Brazilian patients with Parkinson's disease.
|
25817515 |
2015 |
|
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 |
An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance.
|
28911198 |
2017 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Thereby, overexpressing of α-syn-E46K mimicked a rather pre-symptomatic stage of the disease, while the α-syn-WT overexpressing animals imitated an early symptomatic stage of PD.
|
30989398 |
2019 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Finally, we observed that the PD-linked mutation E46K enhances PLK2-mediated α-syn degradation, suggesting that this mutated form is a <i>bona fide</i> substrate of this degradation pathway.
|
28154193 |
2017 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we used an αS tetramer-abrogating mouse model of PD (3K) that amplifies the familial E46K PD mutation to investigate the effects of female sex and brain-selective estrogen treatment on αS tetramerization and solubility, formation of vesicle-rich αS<sup>+</sup> aggregates, dopaminergic and cortical fiber integrity, and associated motor deficits.
|
31405930 |
2019 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
E46K mutant α-synuclein is more degradation resistant and exhibits greater toxic effects than wild-type α-synuclein in Drosophila models of Parkinson's disease.
|
31242217 |
2019 |
|
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 |