Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The synuclein family is composed of three members, two of which, α- and β-synuclein, play a major role in the development of synucleinopathies, including Parkinson's disease (PD) as most important movement disorder, dementia with Lewy bodies (DLB) as the second most frequent cause of dementia after Alzheimer's disease and multiple system atrophy.
|
29370097 |
2018 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Finally, one major and four minor DLB specific SNCB haplotypes were identified with Haploview and Arlequin.
|
30040713 |
2018 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
The data showed that CEF corrected neuronal density and activity in the hippocampal CA1 area, suppressed hyperactivity in the subthalamic nucleus, and reduced <i>α</i>-synuclein accumulation, indicating that CEF is a potential agent in the treatment of DLB.
|
30154934 |
2018 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Altogether, this data suggests that beta-synuclein changes in DLB may exacerbate neuronal dysfunction caused by accumulation of alpha-synuclein by influencing protein degradation pathways; this should be taken into consideration when designing therapeutic strategies aimed to decrease alpha-synuclein burden in Lewy body diseases.
|
29278715 |
2018 |
Lewy Body Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consistent with the current view that dysfunction in the autophagy-lysosomal system may play a major role in the formation of axonal swellings, our studies showed globule, small axonal swellings, derived from transgenic mice expressing either human wild-type α-synuclein (αS-globule) or DLB-linked P123H β-synuclein (βS-globule), contained autophagosome-like membranes.
|
25996784 |
2015 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
First, all BS isoforms are drastically diminished in the cortex of patients with pure LBP that had presented clinically as DLB but not PD with dementia.
|
22205345 |
2012 |
Lewy Body Disease
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
A drastic diminution of β-synuclein expression was observed in cortical areas of all samples that presented neuropathological features corresponding to pure diffuse Lewy body pathology and the clinical phenotype of dementia with Lewy bodies, but not in those with neuropathological features corresponding to diffuse Lewy body pathology and concomitant Alzheimer's disease pathology or the clinical phenotype of Parkinson's disease with dementia.
|
20959308 |
2010 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A β-synuclein mutation linked to dementia produces neurodegeneration when expressed in mouse brain.
|
21045828 |
2010 |
Lewy Body Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that variants in all 3 members of the synuclein gene family, particularly SNCA and SNCG, affect the risk of developing DLBD and warrant further investigation in larger, pathologically defined data sets as well as clinically diagnosed Parkinson disease/dementia with Lewy bodies case-control series.
|
20697047 |
2010 |
Lewy Body Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.
|
17652097 |
2007 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
A comprehensive, unbiased inventory of synuclein forms present in Lewy bodies from patients with dementia with Lewy bodies was carried out using two-dimensional immunoblot analysis, novel sandwich enzyme-linked immunosorbent assays with modification-specific synuclein antibodies, and mass spectroscopy.
|
16847063 |
2006 |
Lewy Body Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the beta-synuclein gene may predispose to DLB.
|
15365127 |
2004 |
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
BEFREE |
Together, these data further support a role for beta-synuclein in regulating the conformational state of alpha-synuclein and suggest that this gene transfer approach might have potential for the development of alternative therapies for PD and DLB.
|
15483670 |
2004 |
Lewy Body Disease
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial diffuse Lewy body disease (DLBD) is rare and not yet associated with a defect in the synuclein gene.
|
11890854 |
2002 |
Lewy Body Disease
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Lewy Body Disease
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|