|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report that all three naturally occurring synuclein isoforms (alpha, beta, and gamma-synuclein) are similarly effective inhibitors of PLD2 in vitro, as is the Parkinson's disease-associated mutant A30P.
|
15033366 |
2004 |
|
Parkinson Disease
|
0.100 |
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Additionally, the SHEsis software platform was applied for linkage disequilibrium (LD) analysis between rs356182 and another PD-associated synuclein SNP rs356219 we previously reported.
|
27538639 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The rational of the study was to develop a risk prediction model for PD using these genetic polymorphisms along with synuclein (SNCA) polymorphism.
|
26438087 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We show that NUCB1 inhibits aggregation of islet-amyloid polypeptide associated with type 2 diabetes mellitus, a-synuclein associated with Parkinson's disease, transthyretin V30M mutant associated with familial amyloid polyneuropathy, and Aβ42 associated with Alzheimer's disease by stabilizing their respective protofibril intermediates.
|
28220836 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Neither of the SNCB SNPs examined were associated with PD overall or in strata, and haplotype analyses were negative as well.
|
17556099 |
2007 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Since alterations in synuclein function may predispose to the disease pathology of PD, regardless of the presence of genetic mutations, a more thorough understanding of the cellular regulation and function of alpha-synuclein may be of crucial importance to our understanding of this degenerating disorder.
|
12025860 |
2002 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This invariant pattern of specific phosphorylation, truncation, and ubiquitination is also present in the detergent-insoluble fraction of brain from patients with familial Parkinson's disease (synuclein A53T mutation) as well as multiple system atrophy, suggesting a common pathogenic pathway for both genetic and sporadic Lewy body diseases.
|
16847063 |
2006 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DNA samples from the 43 index cases were screened for alterations in the genes for alpha-synuclein and beta-synuclein, as alpha-synuclein alterations cause PD and beta-synuclein may modulate alpha-synuclein aggregation and neurotoxicity.
|
15365127 |
2004 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
While head injury alone was not associated with PD risk, our data suggest head injury may initiate and/or accelerate neurodegeneration when levels of synuclein are high, as in those with Rep1 expansion.
|
22275250 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Herein, we focused on assessing the effect of βS on the aggregation of five αS pathological mutants linked to early-onset PD (A30P, E46K, H50Q, G51D and A53T).
|
29364143 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
First, although some of the Mendelian forms of PD are very rare (including those caused by alfa-synuclein, DJ-1, and PINK1 mutations) they are facilitating greatly the dissection of the molecular pathways that lead to death of dopaminergic neurons; these pathways might also be implicated in the pathogenesis of the common forms of PD.
|
16175160 |
2005 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Increased α-synuclein levels and mutations in mitochondria-associated proteins both cause familial Parkinson's disease (PD), and synuclein and mitochondria also play central, but poorly understood, roles in the pathogenesis of idiopathic PD.
|
23512373 |
2013 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our data demonstrate olfactory deficits in a synuclein fly PD model for exploring olfactory pathology and physiology, and for monitoring PD progression and treatment.
|
24879013 |
2014 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immune alterations in response to extracellular <i>α</i>-synuclein may play a critical role in modulating Parkinson's disease progression.
|
29850629 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Rats and mice with unilateral damage to the nigrostriatal dopamine system-induced by neurotoxins, such as 6-hydroxydopamine, overexpression of α-synuclein, or injections of toxic synuclein protofibrils-are widely used as experimental models to mimic the loss of dopamine neurons seen in Parkinson's disease.
|
30741691 |
2019 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
<i>The objective of this study was to determine whether there is evidence from quantitative morphometry and spatial pattern analysis to support the hypothesis of anatomical spread of -synuclein in Parkinson's disease dementia (PDD).
|
28430289 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aggregation of the protein ɑ-synuclein (ɑS) underlies a range of increasingly common neurodegenerative disorders including Parkinson's disease.
|
28673288 |
2017 |
|
Parkinson Disease
|
0.100 |
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 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The etiology of Parkinson's disease (PD) is linked with cellular inclusions in the <i>substantia nigra pars compacta</i> region of the brain that are enriched in the misfolded presynaptic protein <i>α</i>-synuclein (<i>α</i>S) and death of the dopaminergic neurons.
|
31687080 |
2019 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Neurons ectopically expressing mutant LRRK2 formed inclusion bodies (IBs), retracted neurites, accumulated synuclein, and died prematurely, recapitulating key features of PD.
|
24403142 |
2014 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
LHGDN |
Beta-synuclein displays an antiapoptotic p53-dependent phenotype and protects neurons from 6-hydroxydopamine-induced caspase 3 activation: cross-talk with alpha-synuclein and implication for Parkinson's disease.
|
12867415 |
2003 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In the attempt to better reproduce the key features of PD, in particular the progressive nature of neurodegeneration, alternative PD models have been developed, based on the genetic and neuropathological links between -synuclein ( -syn) and PD.
|
20522009 |
2010 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
For example, epigenetic alterations of the gene encoding for <i>α</i>-synuclein (<i>SNCA</i>) have been widely explored in both brain and peripheral tissues of Parkinson's disease samples.
|
29849887 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
<i>α</i>-synuclein RT-QuIC in cerebrospinal fluid of LRRK2-linked Parkinson's disease.
|
31211166 |
2019 |