|
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 |
A novel α-synuclein missense mutation in Parkinson disease.
|
23427326 |
2013 |
|
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 |
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 |
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 |
The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity.
|
24936070 |
2014 |
|
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease.
|
23457019 |
2013 |
|
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 |
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 |
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 |
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 |
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
The PD-causing mutation A53T decreases tetramers in mouse brain.
|
26076669 |
2015 |
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
A53T) are known to be directly associated with Parkinson's disease (PD).
|
28442946 |
2017 |
|
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 |
|
Familial (FPAH)
|
|
0.100 |
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 |
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
We failed to discover Ala53Thr or Ala30Pro mutations in a large number of Chinese patients with PD and control subjects, adding to the emerging consensus that variations in the alpha-synuclein gene are associated with PD in few families worldwide.
|
10768624 |
2000 |
|
Parkinson Disease
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among familial forms of PD, a small fraction is caused by missense (A53T, A30P and E46K) and copy number mutations in SNCA which encodes alpha-synuclein, a primary protein constituent of Lewy bodies, the pathognomonic protein aggregates found in neurons in PD.
|
20106867 |
2010 |
|
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 |
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A30P and A53T mutations of the presynaptic protein alpha-synuclein are associated with familial forms of Parkinson disease.
|
16020550 |
2005 |
|
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 |