Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, to enhance the pathological properties of α-synuclein, we inserted into SNCA an A53T mutation, two single-nucleotide polymorphisms identified in a genome-wide association study in Parkinson's disease and a Rep1 polymorphism, all of which are causal of familial Parkinson's disease or increase the risk of sporadic Parkinson's disease.
|
31816026 |
2020 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Dopamine Cytotoxicity on SH-SY5Y Cells: Involvement of α-Synuclein and Relevance in the Neurodegeneration of Sporadic Parkinson's Disease.
|
30806984 |
2019 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
In this review, we focus on the recent advances on the role of Rab GTPases in the biology of two main proteins involved in Parkinson's disease: LRRK2 and α-synuclein, given that mutations in their genes (LRRK2 and SNCA) cause familial and sporadic Parkinson's disease.
|
31054512 |
2019 |
Sporadic Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
There appears to be an inverse relationship between glucocerebrosidase and α-synuclein levels, and even patients with sporadic Parkinson disease have decreased glucocerebrosidase.
|
31464647 |
2019 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Role of Sporadic Parkinson Disease Associated Mutations A18T and A29S in Enhanced α-Synuclein Fibrillation and Cytotoxicity.
|
28841377 |
2018 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, toxic α-synuclein oligomer, which can mediate cell-to-cell propagation is suggested to cause sporadic Parkinson disease.
|
29892158 |
2018 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
α-synuclein is involved in both familial and sporadic Parkinson's disease.
|
29702063 |
2018 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although usually sporadic, Parkinson's disease can result from inherited copy number variants in SNCA and other genes.
|
29917054 |
2018 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This report demonstrates insoluble alpha-synuclein (aSYN)+ aggregates in human sporadic Parkinson's disease (PD) midbrain that are linearly correlated with loss of glucocerebrosidase (GCase) activity.
|
30315256 |
2018 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A comprehensive analysis of SNCA-related genetic risk in sporadic parkinson disease.
|
30146727 |
2018 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The total αSyn concentration in dental calculus is not a suitable biomarker for sporadic PD.
|
29600388 |
2018 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic Variants in SNCA and the Risk of Sporadic Parkinson's Disease and Clinical Outcomes: A Review.
|
28781905 |
2017 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, our footprint-free LRRK2-G2019S isogenic cell lines allow standardized, genetic background independent, in vitro PD modeling and provide new insights into the role of LRRK2-G2019S and S129P-αS in the pathogenesis of PD.
|
28826027 |
2017 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We screened SNCA exon 3 in 988 patients without SNCA multiplications (430 with autosomal dominant PD and 558 with sporadic PD).
|
28666710 |
2017 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Small molecules targeting αSyn reverted the degenerative phenotype under both basal and induced stress conditions, indicating a treatment strategy for PD and other synucleinopathies.
|
28416701 |
2017 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha-synuclein (α-syn) is involved in both familial and sporadic Parkinson's disease (PD).
|
28790323 |
2017 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We evaluated the association between SNCA single nucleotide polymorphisms (single nucleotide polymorphisms, SNPs - rs2583988, rs356219, rs2736990, and rs11931074) and PD risk in a Brazilians sample.
|
28676755 |
2017 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNCA rs356182 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.
|
27538639 |
2016 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Post mortem studies on familial and sporadic Parkinson's disease patient striatal tissue have shown that nearly 90% of α-synuclein deposited in Lewy-bodies is phosphorylated at serine-129 (pSyn-129) as opposed to only 4% in normal human brain.
|
27064513 |
2016 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gene multiplications or point mutations in alpha (α)-synuclein are associated with familial and sporadic Parkinson's disease (PD).
|
25497688 |
2015 |
Sporadic Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hypomethylation of SNCA in blood of patients with sporadic Parkinson's disease.
|
24326201 |
2014 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
However, the mechanisms by which subtle variations in the expression of wild-type SNCA and MAPT influence risk for PD and the underlying cellular events that effect neurotoxicity remain unclear.
|
24430504 |
2014 |
Sporadic Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Brain regions with and without a Parkinson's disease-related increase in α-synuclein levels were assessed in autopsy samples from subjects with sporadic Parkinson's disease (n = 19) and age- and post-mortem delay-matched controls (n = 10).
|
24477431 |
2014 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Because sequence variants in the SNCA gene are not only associated with autosomal dominantly inherited PD and increased susceptibility for sporadic PD but also have been found to modify the phenotype such as age at onset in both sporadic and various monogenic forms of PD, this gene serves as an outstanding target for further research on PD pathogenesis, which in return might provide potential therapeutic options.© 2013 Movement Disorder Society.
|
23674386 |
2013 |
Sporadic Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNCA rs356219 variant increases risk of sporadic Parkinson's disease in ethnic Chinese.
|
23737253 |
2013 |