rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
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 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Chronic isolation stress is associated with increased colonic and motor symptoms in the A53T mouse model of Parkinson's disease.
|
31709672 |
2020 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Taken together, GP-EX, including gypenosides, has ameliorative effects on dopaminergic neuronal cell death due to the overexpression of α-synuclein by modulating ERK1/2, Bad at Ser112, and JNK1/2 signaling in the midbrain of A53T mouse model of PD.
|
31552910 |
2020 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
FTY720 (fingolimod) reduces synucleinopathy in A53T aSyn mice and motor dysfunction in 6-OHDA and rotenone PD models, but no one has tested FTY720 in mice that develop age-onset PD-like motor problems.
|
31129200 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Chemogenetic Modulation of Orexin Neurons Reverses Changes in Anxiety and Locomotor Activity in the A53T Mouse Model of Parkinson's Disease.
|
31417337 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The presence of serotonergic pathology in premotor A53T SNCA carriers preceded development of dopaminergic pathology and motor symptoms and was associated with disease burden, highlighting the potential early role of serotonergic pathology in the progression of Parkinson's disease.
|
31229470 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We quantitatively analyzed α-synuclein inclusion formation and clearance in a yeast cell model of PD expressing either wild-type (WT) α-synuclein or the disease-associated A53T mutant from the galactose (Gal)-inducible promoter.
|
30995486 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
To fill this gap, we used an assay based on FRET that exploits a HEK293T "biosensor" cell line stably expressing α-syn (A53T)-CFP/YFP fusion proteins to detect α-syn seeds in brain extracts from PD and MSA patients.
|
30478174 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In vivo experiments using A53T and viral-αSyn overexpression mouse models as well as human PD neuropathological results further confirm the role of Fyn in NLRP3 inflammasome activation.
|
31036561 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Neurodegeneration and contralateral α-synuclein induction after intracerebral α-synuclein injections in the anterior olfactory nucleus of a Parkinson's disease A53T mouse model.
|
30987677 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Caffeic acid reduces A53T α-synuclein by activating JNK/Bcl-2-mediated autophagy in vitro and improves behaviour and protects dopaminergic neurons in a mouse model of Parkinson's disease.
|
31707034 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, using a transgenic <i>SNCA</i><sup>A53T</sup> mouse model, overexpressing the PD-associated α-syn variant A53T, we compared levels of α-syn species in purified brain lysosomes from nonsymptomatic mice with those in age-matched symptomatic mice.
|
31092553 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Recent studies have demonstrated that the DA content is critical for both DJ-1 knockout and A53T α-synuclein transgenic mice to develop PD pathological features, providing evidence for DA action in PD pathogenesis in vivo.
|
30592597 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The present study used overexpression of the wild‑type and the A53T mutation of α‑syn to induce a neuronal model of PD in SH‑SY5Y cells, which led to neuronal toxicity and a reduced cell proliferation index.
|
31180515 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
We have previously developed a disease-in-a-dish model for familial PD using induced pluripotent stem cells (iPSCs) from two patients carrying the p.A53T α-synuclein (αSyn) mutation.
|
30989481 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Human myeloperoxidase (hMPO) is expressed in neurons in the substantia nigra in Parkinson's disease and in the hMPO-α-synuclein-A53T mouse model, correlating with increased nitration and aggregation of α-synuclein and exacerbation of motor impairment.
|
31175983 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Co-expressing α-synuclein with the Parkinson's disease (PD)-associated A53T mutation and GCaMP3 in midbrain DA neurons revealed augmented cytosolic steady state and activity-dependent intra-terminal calcium levels preferentially in DLS, as well as hyperactivation and enhanced expression of N-type calcium channels.
|
30890737 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Previously, we reported that intracranial inoculation of brain homogenate from multiple system atrophy (MSA) patient samples produces neurological disease in the transgenic (Tg) mouse model TgM83<sup>+/-</sup>, which uses the prion protein promoter to express human α-synuclein harboring the A53T mutation found in familial Parkinson's disease (PD).
|
30690664 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Gami-Chunggan Formula Prevents Motor Dysfunction in MPTP/p-Induced and A53T α-Synuclein Overexpressed Parkinson's Disease Mouse Model Though DJ-1 and BDNF Expression.
|
31555122 |
2019 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
In humans, the A53T mutation induces early onset PD and increases the level of aSN oligomerization and fibrillation propensity, but Thr53 occurs naturally in aSNs of most animals.
|
30067901 |
2018 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
The A53T SNCA missense mutation is associated with an autosomal dominant early-onset familial PD.
|
29865270 |
2018 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
123I-FP-CIT SPECT [(123) I-2β-carbomethoxy-3β-(4-iodophenyl)-N-(3-fluoropropyl) nortropane single photon emission computed tomography] Imaging in a p.A53T α-synuclein Parkinson's disease cohort versus Parkinson's disease.
|
30288781 |
2018 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Phosphorylation of Parkin at serine 131 by p38 MAPK promotes mitochondrial dysfunction and neuronal death in mutant A53T α-synuclein model of Parkinson's disease.
|
29899409 |
2018 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
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 |
rs104893877
|
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
A53T missense mutations in the SNCA gene has been proved to enhance the expression of SNCA and accelerate the onset of PD.
|
30080657 |
2018 |