|
rs104893877
|
|
|
0.070 |
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 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In this work, for the first time, it was found that GQDs at a concentration of 0.5 μg/mL can promote A53T αS aggregation by shortening the nucleation process, which is the key rate-determining step of fibrillation, thereby making a signal-on biosensor.
|
29276384 |
2017 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We evaluated fibrillation blockade in α-synuclein A53T deletion mutants and CCT interactions of full-length A53T in distinct oligomeric states to define an inhibition mechanism specific for α-synuclein.
|
28102321 |
2017 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
We show that N-terminal acetylation inhibits the formation of the "fibrillation promoting" transient helix at residues 14-31 resulting from the A53T mutation in the non-acetylated variant and supports the formation of the "fibrillation inhibiting" transient helix in residues 1-12 thereby resulting in slower fibrillation rates relative to the previously studied non-acetylated A53T variant.
|
24058647 |
2013 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
Comparable results were obtained for the effect of the cigarette smoke components on the A53T mutant fibrillation.
|
19013262 |
2009 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
In contrast to the wild-type and A53T proteins, in which fibrillation was further accelerated by the presence of the pesticide diethyldithiocarbamate (DDC), the A30P mutant was inhibited by DDC.
|
12428728 |
2002 |
|
rs104893877
|
|
|
0.070 |
GeneticVariation |
BEFREE |
To determine the underlying molecular basis for the enhanced fibrillation of the mutants, the structural properties, responses to changes in the environment, and propensity to aggregate of wild-type, A30P, and A53T alpha-synucleins were systematically investigated.
|
11560511 |
2001 |
|
rs542171324
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our data suggest that the A53V mutation accelerates fibrillation of α-Syn without affecting the overall morphology or cytotoxicity of fibrils compared to those of the wild-type (WT) protein.
|
29771508 |
2018 |
|
rs752981956
|
|
|
0.010 |
GeneticVariation |
BEFREE |
While the G68E mutation is particularly important in weakening fibrillation and possible toxicity, the strongest effect is seen when all three mutations are present.
|
30067901 |
2018 |
|
rs3766871
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study identifies a significant role of RyR2 rs3766871 minor allele for increased susceptibility to VT/VF in a population of ICD patients with HF.
|
25773045 |
2015 |
|
rs199473244
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report identification and functional characterization of a rare non-synonymous (p.A1427S) variant in the SCN5A gene that was associated with incessant and lethal ventricular tachycardia and fibrillation after administration of lidocaine to a patient with acute myocardial infarction.
|
24445991 |
2014 |
|
rs200034939
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We report identification and functional characterization of a rare non-synonymous (p.A1427S) variant in the SCN5A gene that was associated with incessant and lethal ventricular tachycardia and fibrillation after administration of lidocaine to a patient with acute myocardial infarction.
|
24445991 |
2014 |
|
rs199473648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Data suggest a mechanism for reduced penetrance, inherited arrhythmia in which baseline I Kr current reduction by the T10M mutation is exacerbated by superimposition of arrhythmogenic substrates such as auditory stimuli, or electrolyte disturbances that reduce I Kr (hypokalaemia) or otherwise lower the ventricular threshold for fibrillation (hypomagnesaemia and hypocalcaemia).
|
18006462 |
2008 |
|
rs2200733
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of rs2200733 at 4q25 with atrial flutter/fibrillation diseases in an Italian population.
|
18931155 |
2008 |