|
Abnormal behavior
|
|
0.020 |
GeneticVariation
|
BEFREE |
Finally, administering the retro-inverso peptide to a Drosophila model expressing mutant A53T α-synuclein in the nervous system, resulted in a significant recovery of the behavioral abnormalities of the treated flies and in a significant reduction in α-synuclein accumulation in the brains of the flies.
|
21085664 |
2010 |
|
Abnormal behavior
|
|
0.020 |
GeneticVariation
|
BEFREE |
In this cross-sectional study, we recruited carriers of the A53T SNCA mutation from specialist Movement Disorders clinics in Athens, Greece, and Salerno, Italy, and a cohort of healthy controls with no personal or family history of neurological or psychiatric disorders from London, UK (recruited via public advertisement) who were age matched to the A53T SNCA carriers.
|
31229470 |
2019 |
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
Other examples are, Parkinson's disease (PD), where A53T alpha-synuclein occurs in Lewy bodies and familial amyloid polyneuropathy (FAP), where an A25T substitution appears in transthyretin (TTR).
|
20060816 |
2010 |
|
Adult Glioblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
DOPAL (exogenous or endogenous from co-incubation with PC12 cells) and AS (native or A53T mutant form) were added to the incubation medium of glial cells (glioblastoma or MO3.13 oligodendrocytes).
|
26777075 |
2016 |
|
Alzheimer's Disease
|
|
0.040 |
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.
|
9743579 |
1998 |
|
Alzheimer's Disease
|
|
0.040 |
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.
|
10704204 |
2000 |
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Analogous to a successful strategy for the production of transgenic animal models for Alzheimer's disease we generated mice expressing wildtype and the A53T mutant of human alphaSN in the nervous system under control of mouse Thy1 regulatory sequences.
|
11113617 |
2000 |
|
Alzheimer's Disease
|
|
0.040 |
GeneticVariation
|
BEFREE |
Cerebral inoculation of human A53T α-synuclein reduces spatial memory decline and amyloid-β aggregation in APP/PS1 transgenic mice of Alzheimer's disease.
|
30366065 |
2018 |
|
Amyloid Neuropathies, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
Other examples are, Parkinson's disease (PD), where A53T alpha-synuclein occurs in Lewy bodies and familial amyloid polyneuropathy (FAP), where an A25T substitution appears in transthyretin (TTR).
|
20060816 |
2010 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.010 |
GeneticVariation
|
BEFREE |
Other examples are, Parkinson's disease (PD), where A53T alpha-synuclein occurs in Lewy bodies and familial amyloid polyneuropathy (FAP), where an A25T substitution appears in transthyretin (TTR).
|
20060816 |
2010 |
|
Amyotrophic Lateral Sclerosis, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
These models express G37R mutant Cu/Zn superoxide dismutase (SOD1G37R; fALS), A53T mutant alpha-synuclein (alpha-SynA53T; PD), full-length mutant atrophin-1-65Q, and htt-N171-82Q (huntingtin N-terminal fragment; HD).
|
17316906 |
2008 |
|
Anxiety
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, our results indicated that the novel environment-induced defecation response, a common method used to evaluate colorectal function, was not a useful test to measure exacerbation of GI dysfunction, most likely because of the reported reduced level of anxiety in A53T mice.
|
31709672 |
2020 |
|
Anxiety
|
|
0.030 |
GeneticVariation
|
BEFREE |
To test this, we used 3-, 5-, and 7-month-old A53T mice to examine anxiety-like behavior, locomotion, and expression of inflammation and astrogliosis markers in the Hipp and mCtx.
|
31417337 |
2019 |
|
Anxiety
|
|
0.030 |
GeneticVariation
|
BEFREE |
A53T (SNCA) and wild type (WT) littermate mice were evaluated for motor function (rotarod and stride length) and anxiety (elevated plus maze and open field) every 2 weeks.
|
23938351 |
2013 |
|
Anxiety Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
A53T (SNCA) and wild type (WT) littermate mice were evaluated for motor function (rotarod and stride length) and anxiety (elevated plus maze and open field) every 2 weeks.
|
23938351 |
2013 |
|
Anxiety Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
However, our results indicated that the novel environment-induced defecation response, a common method used to evaluate colorectal function, was not a useful test to measure exacerbation of GI dysfunction, most likely because of the reported reduced level of anxiety in A53T mice.
|
31709672 |
2020 |
|
Anxiety Disorders
|
|
0.030 |
GeneticVariation
|
BEFREE |
To test this, we used 3-, 5-, and 7-month-old A53T mice to examine anxiety-like behavior, locomotion, and expression of inflammation and astrogliosis markers in the Hipp and mCtx.
|
31417337 |
2019 |
|
Autosomal Dominant Parkinsonism
|
|
0.010 |
GeneticVariation
|
BEFREE |
A specific mutation (A53T) in the encoding region for alpha-synuclein has been identified in a large multigenerational family with an autosomal dominant parkinsonism known as the Contursi kindred.
|
9878203 |
1998 |
|
Behavioral Symptoms
|
|
0.010 |
GeneticVariation
|
BEFREE |
When administering to Drosophila fly model expressing mutant A53T α-syn in the nervous system, a significant curative effect on the behavioral symptoms of the flies and on α-syn aggregation in their brain was observed.
|
22575665 |
2012 |
|
Brain Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Astrocytes have a neuroprotective role in several detrimental brain conditions; we therefore analyzed the effects of the overexpression of wild-type α-synuclein and its A30P and A53T mutants on autophagy and apoptosis.
|
28573674 |
2018 |
|
Caffeine related disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Despite converging epidemiological evidence for the inverse relationship of regular caffeine consumption and risk of developing Parkinson's disease (PD) with animal studies demonstrating protective effect of caffeine in various neurotoxin models of PD, whether caffeine can protect against mutant α-synuclein (α-Syn) A53T-induced neurotoxicity in intact animals has not been examined.
|
29770111 |
2018 |
|
Central neuroblastoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C).
|
28768533 |
2017 |
|
Central neuroblastoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Finally, we show that this association inhibits α-synuclein A53T oligomer toxicity in neuroblastoma cells.
|
28102321 |
2017 |
|
Central neuroblastoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
In this study, we examined the influence of the overexpression of wild-type (WT) and mutant-type (MT, A53T and A30P) α-synuclein on the autophagy in neuroblastoma SH-SY5Y cells under starvation, and then investigated the regulation of endogenous HMGB1 on the α-synuclein degradation and on the starvation-induced autophagy in the α-synuclein-overexpressed SH-SY5Y cells.
|
29551576 |
2018 |
|
Central neuroblastoma
|
|
0.050 |
GeneticVariation
|
BEFREE |
Neuroblastoma cells were stably transfected with wild type (WT) and A53T mutant alpha-synuclein.
|
16584840 |
2006 |