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rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The mutation-specific postsynaptic effects caused by human A53T α-synuclein will help us better understand the neurobiological basis of this specific form of familial PD.
|
30249789 |
2018 |
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rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Concurrently, intracerebral injection of pathological alpha-synuclein into transgenic mice overexpressing human wild-type alpha-synuclein, or human alpha-synuclein with the familial A53T mutation, or into wild-type mice causes spreading of alpha-synuclein pathology in the CNS.
|
26612754 |
2015 |
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rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Genetic studies have revealed that rare point mutations in the gene encoding α-synuclein including A30P, A53T, and E46K are associated with familial forms of PD, indicating a pathological role for mutant α-synuclein in PD etiology.
|
24833599 |
2014 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The A53T mutation in the SNCA gene, although uncommon, does represent a cause of PD in the Greek population, especially of familial EOPD with autosomal dominant inheritance.
|
24313877 |
2014 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease.
|
18389263 |
2008 |
|
rs104893877
|
|
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 |
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rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
We report here the immunohistochemical, biochemical and ultrastructural characterization of alpha-syn neuropathology in a case of familial PD with the A53T alpha-syn gene mutation.
|
15144854 |
2004 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
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 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
To better understand the pathogenic relationship between alterations in the biology of alpha-Syn and PD-associated neurodegeneration, we generated multiple lines of transgenic mice expressing high levels of either wild-type or familial PD-linked Ala-30 --> Pro (A30P) or Ala-53 --> Thr (A53T) human alpha-Syns.
|
12084935 |
2002 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The familial Parkinson's disease associated mutations of alpha-synuclein (Ala53Thr and Ala30Pro) also demonstrate a strong interaction between their C-terminal regions and synphilin-1.
|
11331421 |
2001 |
|
rs104893877
|
|
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 |
|
rs104893877
|
|
Familial (FPAH)
|
|
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 |
|
rs104893877
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
alpha-Synuclein is a key component of Lewy bodies found in the brains of patients with Parkinson's disease and two point mutations in this protein, Ala53Thr and Ala30Pro, are associated with rare familial forms of the disease.
|
10799759 |
2000 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The disease model of familial amyloidotic polyneuropathy-7.2-hMet30 mice-manifests amyloid deposition that consists of a human amyloidogenic mutant transthyretin (TTR) (TTR V30M).
|
29288430 |
2018 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
To determine whether CLR01 was effective in vivo, we tested the compound in mice expressing TTR V30M, a model of familial amyloidotic polyneuropathy, which recapitulates the main pathological features of the human disease.
|
24459092 |
2014 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.
|
25550818 |
2014 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Impact of antibodies against amyloidogenic transthyretin (ATTR) on phenotypes of patients with familial amyloidotic polyneuropathy (FAP) ATTR Valine30Methionine.
|
23462670 |
2013 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Coexistence of familial transthyretin amyloidosis ATTR Val30Met and spinocerebellar ataxia type 1 in a Japanese family--a follow-up autopsy report.
|
15523922 |
2004 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
Vitreous amyloidosis in familial amyloidotic polyneuropathy. Report of a case with the Val30Met transthyretin mutation.
|
8599155 |
1996 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
In familial amyloidotic polyneuropathy type I the protein constituent is a variant transthyretin molecule that has a Val to Met substitution at residue 30.
|
7490736 |
1995 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A case of severe cardiac involvement is reported in a patient affected with familial amyloidotic polyneuropathy due to the Portuguese type I variant (Val-->Met30) of the transthyretin (prealbumin) molecule.
|
7987869 |
1994 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A plasma prealbumin variant with a methionine-for-valine substitution at position 30 is closely associated with familial amyloidotic polyneuropathy (FAP) type I.
|
3756182 |
1986 |
|
rs28933979
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A transthyretin variant with a methionine for valine substitution at position 30 [TTR(Met30)] is found in Portuguese patients with familial amyloidotic polyneuropathy (FAP).
|
3908483 |
1985 |
|
rs34637584
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most common mutation in both familial and sporadic PD is the G2019S mutation of leucine-rich repeat kinase 2 (LRRK2) with high prevalence in Ashkenazi Jewish patients and in North African Berber and Arab patients.
|
31330122 |
2019 |
|
rs34637584
|
|
Familial (FPAH)
|
|
0.100 |
GeneticVariation
|
BEFREE |
A Y2018F mutation creates a hyperactive phenotype similar to the familial mutation G2019S.
|
31292254 |
2019 |