|
Mental disorders
|
|
0.010 |
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 |
|
Forgetful
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our results directly implicate tau as a mediator of specific human mutant A53T αS-mediated abnormalities related to deficits in hippocampal neurotransmission and suggest a mechanism for memory impairment that occurs as a consequence of synaptic dysfunction rather than synaptic or neuronal loss.
|
31168644 |
2019 |
|
CNS metastases
|
|
0.010 |
GeneticVariation
|
BEFREE |
Gastrointestinal dysfunction in A53T αS mice represents an early sign of αS-driven pathology without concomitant CNS involvement.
|
30774946 |
2019 |
|
Cognition Disorders
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we first provided evidence that RV treatment alleviated motor and cognitive deficits in the A53T α-synuclein mouse model of PD in a dose-dependent manner.
|
30462117 |
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 |
|
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 |
|
Frontotemporal dementia
|
|
0.010 |
GeneticVariation
|
BEFREE |
A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation.
|
28012952 |
2017 |
|
Gaucher Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
To model the effect of partial glucocerebrosidase deficiency on neurological progression in vivo, mice with a human A53T α-synuclein (SNCA<sup>A53T</sup>) transgene were crossed with heterozygous null gba mice (gba<sup>+/-</sup>).
|
29173981 |
2017 |
|
Pick Disease of the Brain
|
|
0.010 |
GeneticVariation
|
BEFREE |
A screen of Greek patients presenting with frontotemporal dementia failed to identify any additional subjects with the p.A53T SNCA mutation.
|
28012952 |
2017 |
|
Gaucher Disease, Type 1
|
|
0.010 |
GeneticVariation
|
BEFREE |
To model the effect of partial glucocerebrosidase deficiency on neurological progression in vivo, mice with a human A53T α-synuclein (SNCA<sup>A53T</sup>) transgene were crossed with heterozygous null gba mice (gba<sup>+/-</sup>).
|
29173981 |
2017 |
|
Varicosity
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here we generated de novo induced pluripotent stem cells (iPSCs) from patients harboring the p.A53T mutation and developed a robust model that captures PD pathogenic processes under basal conditions. iPSC-derived mutant neurons displayed novel disease-relevant phenotypes, including protein aggregation, compromised neuritic outgrowth, and contorted or fragmented axons with swollen varicosities containing αSyn and Tau.
|
28416701 |
2017 |
|
Childhood 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 |
|
Glioblastoma Multiforme
|
|
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 |
|
Multiple Chronic Conditions
|
|
0.010 |
GeneticVariation
|
BEFREE |
Dynamic Changes in Striatal mGluR1 But Not mGluR5 during Pathological Progression of Parkinson's Disease in Human Alpha-Synuclein A53T Transgenic Rats: A Multi-PET Imaging Study.
|
26758830 |
2016 |
|
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 |
|
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 |
|
Dystonia
|
|
0.010 |
GeneticVariation
|
BEFREE |
After the administration of apomorphine, A53T-transgenic mice showed more severe stereotypic and dystonic movements in comparison with wild-type controls.
|
25307288 |
2015 |
|
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
|
Sleep disturbances
|
|
0.010 |
GeneticVariation
|
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
|
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 |
|
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 |
|
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 |
|
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 |
|
Secondary Parkinson Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study we evaluated the apoptotic response to oxidative stress induced by 2-deoxy-d-ribose (dRib) in peripheral blood lymphocytes (PBLs) of two siblings with Parkinson disease secondary to A53T alpha-synuclein mutation.
|
18061619 |
2008 |
|
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 |