|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We show that α-synuclein mutations that predispose to early-onset Parkinson's disease bestow an increased intrinsic sensitivity of α-synuclein to in vitro oxidation.
|
30914006 |
2019 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A30P and E46K are two mutants of α-synuclein (α-Syn) associated with familial early-onset Parkinson's disease (PD), and amyloid fibrils of α-Syn are the hallmarks of this disease.
|
30892349 |
2019 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A30P mutant α-synuclein is believed to suppress autophagic progression associated with PD pathogenesis.
|
30755581 |
2019 |
|
Young onset Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We present the first evidence that the mouse model for the 22q11.2 deletion exhibits motor coordination deficits and molecular signatures (that is, elevated α-synuclein expression) relevant to PD.
|
30116778 |
2018 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Lewy body, one of PD pathological hallmarks, contains alpha-synuclein, a familial PD (PARK1/4)-gene product, which is eliminated by macroautophagy, while PINK1 and parkin coordinately mediate mitophagy (hereafter called as PINK1/parkin-mediated mitophagy) reported firstly by Youle's group.
|
28361483 |
2018 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Conclusion Although it should be supported by further analysis, based on the results of the present study, the methylation status of SNCA and PARK2 genes might contribute to EOPD pathogenesis.
|
28830306 |
2017 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
An increasing number of studies report that PRKN, PINK1, DJ1 and SNCA mutations are associated with early-onset Parkinson's disease; however, a limited number of studies have been conducted in Turkey.
|
27455133 |
2016 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Single-amino acid mutations in the human α-synuclein (αS) protein are related to early onset Parkinson's disease (PD).
|
25909158 |
2015 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We report a British family with young-onset Parkinson's disease (PD) and a G51D SNCA mutation that segregates with the disease.
|
23404372 |
2013 |
|
Young onset Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Anxiety phenotypes are consistent with other α-synuclein based PD models yet incongruous with typical clinical symptoms.
|
23938351 |
2013 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Structured regions of α-synuclein fibrils include the early-onset Parkinson's disease mutation sites.
|
21718702 |
2011 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations.
|
19205068 |
2009 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Early onset Parkinson's disease (EOPD) has been associated with mutations in the Parkin, DJ-1, PINK1, LRRK2, and SNCA genes.
|
18973254 |
2009 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The genetic basis for familial parkinsonism is an SNCA-MMRN11 multiplication, but whereas SNCA-MMRN1 duplication in the Swedish proband (Branch J) leads to late-onset autonomic dysfunction and parkinsonism, SNCA-MMRN1 triplication in the Swedish American family (Branch I) leads to early-onset Parkinson disease and dementia.
|
17251522 |
2007 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We searched for alterations of alpha-synuclein gene dosage and analysed the entire coding region for point mutations in 54 dementia with Lewy body disease (DLB) and in 103 young onset Parkinson's disease (PD) patients from Central Europe.
|
15622440 |
2005 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The PD-linked mutations (A30P and A53T) were observed to affect both the morphology and the size distribution of alpha-synuclein protofibrils (measured by analytical ultracentrifugation and scanning transmission electron microscopy).
|
12367530 |
2002 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in alpha-synuclein are associated with rare familial cases of early-onset Parkinson's disease, and the protein accumulates abnormally in Parkinson's disease, Alzheimer's disease, and several other neurodegenerative illnesses.
|
11806835 |
2002 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Eight regions of the genome (PARK1-8) have been implicated in autosomal dominant and autosomal recessive forms of early-onset Parkinson's disease.
|
12402251 |
2002 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Although essentially all cases of sporadic and early-onset Parkinson's disease are of unknown etiology, two point mutations (A53T and A30P) in the alpha-synuclein gene have been identified in familial early-onset Parkinson's disease.
|
11560511 |
2001 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Acceleration of oligomerization, not fibrillization, is a shared property of both alpha-synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy.
|
10639120 |
2000 |
|
Young onset Parkinson disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The alpha-synuclein gene, which encodes a brain presynaptic nerve terminal protein of unknown function, is linked to familial early-onset Parkinson's disease (PD).
|
11032911 |
2000 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recent findings that mutations in alpha-synuclein lead to autosomal-dominant, early-onset Parkinson's disease in some families and that alpha-synuclein is found in Lewy bodies of all Parkinson's disease patients prompted the hypothesis that the pathophysiology of all Parkinson's disease patients starts with an abnormal folding of alpha-synuclein, producing excessive aggregation that overwhelms the antiaggregation mechanisms of the cell.
|
10555832 |
1999 |
|
Young onset Parkinson disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Alpha-synuclein mRNA was significantly diminished in the substantia nigra of patients with PD compared with control subjects but not in the cortex.
|
10348463 |
1999 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Thus, mutation-induced acceleration of alpha-synuclein fibril formation may contribute to the early onset of familial PD.
|
9809558 |
1998 |
|
Young onset Parkinson disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The results do not support a role for this mutation in our patients with early onset PD and, in agreement with the results previously reported, indicate that the Ala53Thr mutation of the alpha-synuclein gene is a rare cause of PD.
|
9389595 |
1997 |