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 |
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 |
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 |
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 |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
Lewy Body Disease
|
|
0.860 |
CausalMutation
|
CLINVAR |
|
|
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.
|
25561023 |
2015 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.
|
24936070 |
2014 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel α-synuclein missense mutation in Parkinson disease.
|
23427326 |
2013 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
|
23457019 |
2013 |
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 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
|
9462735 |
1998 |
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
|
|
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 |
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 |
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 |
Such E46K-like mutants have been shown to cause dopaminergic neuron loss and severe but L-DOPA-responsive motor defects in mouse overexpression models, presenting enormous translational potential for PD and other "synucleinopathies."
|
31048377 |
2019 |
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results support that Crocin is a effective inhibitor of E46K α-synuclein fibrillization and it could be considered as a potential therapeutic agent in the treatment of Parkinson disease.
|
31111370 |
2019 |
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls.
|
31178336 |
2019 |
Parkinson Disease
|
|
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.
|
29713567 |
2018 |
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In summary, we successfully generated Guangxi Bama minipigs harboring three PD-casusing mutations (E46K, H50Q and G51D) in SCNA.
|
30127453 |
2018 |
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we generated mice expressing the fPD E46K mutation plus 2 homologous E→K mutations in adjacent KTKEGV motifs.
|
30308173 |
2018 |