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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients.
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9389595 |
1997 |
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rs104893877
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0.100 |
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.
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9506559 |
1998 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease.
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9708553 |
1998 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Exploration of the possibility that the same mutation of the alpha-synuclein gene as that in familial PD (Ala53Thr) may also confer susceptibility to sporadic PD, DLB, and AD revealed the mutation in none of the samples of 329 cases and 230 controls examined, suggesting that this mutation is not involved in these neurological diseases.
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9743579 |
1998 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.
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9862427 |
1998 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.
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9862427 |
1998 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Here we demonstrate that wild type and two mutant forms of alpha-synuclein linked to familial Parkinson's disease (Ala30 --> Pro and Ala53 --> Thr) self-aggregate and assemble into 10-19-nm-wide filaments with distinct morphologies under defined in vitro conditions.
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10075647 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Here we demonstrate that wild type and two mutant forms of alpha-synuclein linked to familial Parkinson's disease (Ala30 --> Pro and Ala53 --> Thr) self-aggregate and assemble into 10-19-nm-wide filaments with distinct morphologies under defined in vitro conditions.
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10075647 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Additionally, recent genetic studies based on linkage analysis and cosegregation of A53T and A30P missense mutations demonstrated that the alpha-synuclein gene may be responsible for the development of at least some cases of familial Parkinson's disease.
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10192768 |
1999 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Absence of G209A and G88C mutations in the alpha-synuclein gene of Parkinson's disease in a Chinese population.
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10567818 |
1999 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
One of the mutant forms of alpha-synuclein (A53T) fibrillizes more rapidly in vitro than does the wild-type protein, suggesting that a correlation may exist between the rate of in vitro fibrillization and/or oligomerization and the progression of PD, analogous to the relationship between Abeta fibrillization in vitro and familial AD.
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10704204 |
2000 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Two missense mutations (Ala-30 --> Pro and Ala-53 --> Thr) in the gene encoding alpha-synuclein are associated with rare autosomal dominant forms of familial Parkinson's disease.
|
10722726 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
The Parkinson's disease-associated mutations have no effect on membrane interaction; however, the Ala-30 --> Pro mutation alters the three-dimensional conformation of alpha-synuclein, as measured by significantly increased fluorescence resonance energy transfer between the N and C termini.
|
10722726 |
2000 |
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rs104893877
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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 |
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rs104893878
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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 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Alpha-synuclein and the Parkinson's disease-related mutant Ala53Thr-alpha-synuclein do not undergo proteasomal degradation in HEK293 and neuronal cells.
|
10793231 |
2000 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
We established TSM1 neuronal cell lines overexpressing wild-type (wt) alpha-synuclein or the PD-related Ala-53 --> Thr mutant alpha-synuclein.
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10818098 |
2000 |
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rs104893877
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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 |
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rs104893878
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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 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
Two point mutations associated with Parkinson's disease have little (A30P) or no (A53T) effect on lipid binding or alpha-helicity.
|
10952980 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two point mutations associated with Parkinson's disease have little (A30P) or no (A53T) effect on lipid binding or alpha-helicity.
|
10952980 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
The Parkinson's disease-associated human mutant [A30P]alphaSYN was found to colocalize with betaSYN and synaptophysin in synapses of transgenic mouse brain.
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10964942 |
2000 |
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rs104893878
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0.100 |
GeneticVariation |
BEFREE |
Two mutants of human alpha-synuclein (A53T and A30P) have been linked to early-onset, familial PD.
|
10978144 |
2000 |
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rs104893877
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0.100 |
GeneticVariation |
BEFREE |
The discovery of two missense mutations (A53T and A30P) in the gene encoding the presynaptic protein alpha-synuclein (alphaSN) that are genetically linked to rare familial forms of Parkinson's disease and its accumulation in Lewy bodies and Lewy neurites has triggered several attempts to generate transgenic mice overexpressing human alphaSN.
|
11113617 |
2000 |
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rs104893878
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|
0.100 |
GeneticVariation |
BEFREE |
The discovery of two missense mutations (A53T and A30P) in the gene encoding the presynaptic protein alpha-synuclein (alphaSN) that are genetically linked to rare familial forms of Parkinson's disease and its accumulation in Lewy bodies and Lewy neurites has triggered several attempts to generate transgenic mice overexpressing human alphaSN.
|
11113617 |
2000 |