SNCB, synuclein beta, 6620

N. diseases: 60; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.700 GeneticVariation disease BEFREE Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies. 17652097 2007
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.700 GeneticVariation disease BEFREE Mutations in the beta-synuclein gene may predispose to DLB. 15365127 2004
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.700 CausalMutation disease CLINVAR
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.700 Biomarker disease CTD_human
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.700 Biomarker disease GENOMICS_ENGLAND