PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions.
|
25561023 |
2015 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.
|
24936070 |
2014 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel α-synuclein missense mutation in Parkinson disease.
|
23427326 |
2013 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
|
23457019 |
2013 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia.
|
14755719 |
2004 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
|
9462735 |
1998 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
|
9197268 |
1997 |
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Proteinase K-resistant alpha-synuclein is deposited in presynapses in human Lewy body disease and A53T alpha-synuclein transgenic mice.
|
20339856 |
2010 |
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Abundant neuritic inclusions and microvacuolar changes in a case of diffuse Lewy body disease with the A53T mutation in the alpha-synuclein gene.
|
15981014 |
2005 |
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Missense mutations (A30P and A53T) in alpha-synuclein and the overproduction of the wild-type protein cause familial forms of Parkinson's disease and dementia with Lewy bodies.
|
15498564 |
2004 |
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
Later, the discovery of two missense mutations (G88C and G209A), which resulted in Ala30Pro (A30P) and Ala53Thr (A53T) substitutions, of the alpha-synuclein gene in certain autosomal-dominant early onset familial Parkinson's disease (PD) has greatly promoted the understanding of the role of alpha-synuclein in the pathogenesis of neurodegenerative diseases, such as PD, dementia with Lewy bodies (DLB) and multiple system atrophy (MSA) [5,6,51,75].
|
12719631 |
2003 |
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
The presynaptic protein alpha-synuclein is a prime suspect for contributing to Lewy pathology and clinical aspects of diseases, including Parkinson's disease, dementia with Lewy bodies, and a Lewy body variant of Alzheimer's disease. alpha-Synuclein accumulates in Lewy bodies and Lewy neurites, and two missense mutations (A53T and A30P) in the alpha-synuclein gene are genetically linked to rare familial forms of Parkinson's disease.
|
10934251 |
2000 |
Lewy Body Disease
|
|
0.760 |
GeneticVariation
|
BEFREE |
In addition, we have sequenced exon 4 of this gene in 5 cases of familial disease and have screened for the specific mutation (A53T) in a 40 cases of idiopathic Parkinson's disease, 3 cases of multisystem atrophy, and 15 cases of Lewy body dementia.
|
9506559 |
1998 |
Lewy Body Disease
|
|
0.760 |
CausalMutation
|
CLINVAR |
|
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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
|
|
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 |