rs104893877, SNCA

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Erythrocyte membranes were obtained from PD patients (mutation carriers in the α-synuclein gene (A53T-PD) and glucocerebrosidase gene (GBA-PD) (n=18 each), and patients without known mutations (GU-PD, n=56)), and age-/sex-matched controls (n=56). 29129675 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE This study demonstrates that reduced GCase activity both in the context of heterozygous GBA1 mutation associated with PD and in old age, contribute to increased aggregation of mutant α-syn A53T and exacerbates the phenotype in a fly model of PD. 29503608 2018
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Subjects (rat and NHP) received targeted enteric injections of PFFs or adeno-associated virus overexpressing the Parkinson's disease associated A53T α-syn mutant. 29341898 2018
Parkinson Disease
CUI: C0030567
Disease: 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
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Ten-month-old α-synuclein A53T mice, a model of Parkinson's disease (PD), were treated with chronic restraint stress (CRS) to simulate a PD-sensitive person with constant stress stimulation. 29130486 2018