|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alpha-synuclein (α-syn) is a major component of Lewy bodies, which are the pathological hallmark in Parkinson's disease, and its genetic mutations cause familial forms of Parkinson's disease.
|
31643109 |
2020 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the genes encoding for alpha-synuclein (aSyn), LRRK2, and tau have been associated with familial and sporadic forms of the disease. aSyn is the major component of Lewy bodies and Lewy neurites, which are pathognomonic protein inclusions in PD.
|
31085616 |
2019 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.
|
30619023 |
2018 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Many mutations in genes encoding proteins such as Parkin, PTEN-induced putative kinase 1 (PINK1), protein deglycase DJ-1 (DJ-1 or PARK7), leucine-rich repeat kinase 2 (LRRK2), and α-synuclein have been linked to familial forms of Parkinson's disease (PD).
|
29700116 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In addition, etiological factors (LRRK2, alpha-synuclein) and risk loci might also combine in this common mechanism, providing a powerful experimental setting to dissect the cause of both familial and idiopathic disease.
|
30071902 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We find that expression of familial mutant G2019S LRRK2 does not dramatically elevate the pathological burden of α-synuclein or neurodegeneration in neurons.
|
29855356 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Amyloid formation of α-synuclein (α-Syn) and its familial mutations are directly linked with Parkinson's disease (PD) pathogenesis.
|
30025458 |
2018 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Therefore, the unraveled tau-mediated signaling cascade may contribute to the pathogenesis of dementia in A53T α-synuclein-linked familial PD cases, as well as some subgroups of PD cases with extensive tau pathology.<b>SIGNIFICANCE STATEMENT</b> Here, we report mutation-specific postsynaptic deficits that are caused by A53T mutant α-synuclein, which is linked to familial Parkinson's disease (PD).
|
30249789 |
2018 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Familial parkinsonism associated with SNCA is rare, but α-synuclein aggregation is a core feature of sporadic parkinsonism, including Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy.
|
28324300 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We have assessed the frequency of alpha-synuclein (SNCA) mutations in Japanese patients with familial or sporadic Parkinson's disease (PD) and surveyed their associated clinical manifestations.
|
28666710 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Perturbation of long-range contacts at the mutation sites and C-termini in all of the six familial mutants of α-synuclein during the diseased condition (acidic pH) was observed.
|
28759722 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To address this hypothesis, we characterized the protein endosulfine-alpha (ENSA), previously shown to interact selectively with membrane-bound aSyn, in terms of its effects on the membrane-induced aggregation and neurotoxicity of two familial aSyn mutants, A30P and G51D.
|
28069058 |
2017 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Alpha-synuclein (SNCA) was first implicated in the pathogenesis of the disease when point mutations and locus multiplications were identified in familial parkinsonism with dementia.
|
27091628 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, multiplications and point mutations in the gene encoding for aSyn cause familial forms of PD.
|
27938414 |
2016 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Concurrently, intracerebral injection of pathological alpha-synuclein into transgenic mice overexpressing human wild-type alpha-synuclein, or human alpha-synuclein with the familial A53T mutation, or into wild-type mice causes spreading of alpha-synuclein pathology in the CNS.
|
26612754 |
2015 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
SNCA_ rs356220 was associated with both Sporadic-PD (OR = 1.37, P = 1 × 10(-9)) and Familial-PD (OR = 1.40, P = 2 × 10(-5)).
|
24511991 |
2014 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology.
|
24833599 |
2014 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Numerous studies have suggested that alpha-synuclein plays a prominent role in both familial and idiopathic Parkinson's disease (PD).
|
24068758 |
2013 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Alpha-synuclein (α-Syn) is a human protein that is mutated in specific populations of patients with familial PD.
|
23485787 |
2013 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Fibrillar forms of α-synuclein are a major component of Lewy bodies, the intracytoplasmic proteinaceous inclusions that are a pathological hallmark of idiopathic and certain familial forms of PD.
|
22357653 |
2012 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
α-Synuclein aggregation in the saliva of familial transthyretin amyloidosis: a potential biomarker.
|
22591216 |
2012 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Genome-wide microarray analysis of the differential neuroprotective effects of antioxidants in neuroblastoma cells overexpressing the familial Parkinson's disease alpha-synuclein A53T mutation.
|
19649707 |
2010 |
|
Familial (FPAH)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These findings reveal a significant additional mechanism by which alpha-synuclein is regulated and point toward new therapeutic regimes for lowering endogenous alpha-synuclein levels in patients with familial or sporadic Parkinson disease.
|
20106983 |
2010 |
|
Familial (FPAH)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the alpha-synuclein gene have been linked to rare cases of familial Parkinson's disease (PD). alpha-Synuclein, a 140 amino acid polypeptide, is a major component of Lewy bodies (LB), a pathological hallmark of PD.
|
19816809 |
2010 |
|
Familial (FPAH)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A plausible source of oxidative stress in nigral dopaminergic neurons is the redox reactions that specifically involve dopamine and produce various toxic molecules, i.e., free radicals and quinone species. alpha-Synuclein, a protein found in Lewy bodies characteristic of PD, is also thought to be involved in the pathogenesis of PD and point mutations and multiplications in the gene coding for alpha-synuclein have been found in familial forms of PD.
|
20334701 |
2010 |