rs104893877, SNCA

N. diseases: 59
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Fibrillation
CUI: C0232197
Disease: Fibrillation
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
Fibrillation
CUI: C0232197
Disease: Fibrillation
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
Fibrillation
CUI: C0232197
Disease: Fibrillation
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
Fibrillation
CUI: C0232197
Disease: Fibrillation
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
Fibrillation
CUI: C0232197
Disease: Fibrillation
0.070 GeneticVariation BEFREE Comparable results were obtained for the effect of the cigarette smoke components on the A53T mutant fibrillation. 19013262 2009
Fibrillation
CUI: C0232197
Disease: Fibrillation
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
Fibrillation
CUI: C0232197
Disease: Fibrillation
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