rs104893875, SNCA

N. diseases: 13
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests. 31136022 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE We studied 7 E46K-SNCA carriers (3 dementia with Lewy bodies, 2 pure autonomic failure, 1 PD and 1 asymptomatic), 2 PARK2 carriers and 2 healthy controls to quantify intraepidermal nerve fiber density and p-synuclein deposition with cervical skin punch biopsies (immunohistochemistry against anti PGP9.5/UCHL-1, TH and p-synuclein) and sudomotor function with electrochemical skin conductance (ESC) (SudoScan). 31178336 2019
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE An αS '3K' mutant (E35K + E46K + E61K) that amplifies the PD/DLB-causing E46K mutation induced αS-rich vesicle clusters resembling the vesicle-rich areas of Lewy bodies, supporting pathogenic relevance. 28911198 2017
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE We examined 7 patients from a family harboring a novel mutation in the alpha-synuclein gene (E46K) that segregated with a phenotype of parkinsonism and dementia with Lewy bodies. 16001411 2005
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE Recently, a third missense mutation (E46K) in alpha-synuclein was described in an inherited form of dementia with Lewy bodies. 15498564 2004
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 GeneticVariation BEFREE The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
Lewy Body Disease
CUI: C0752347
Disease: Lewy Body Disease
0.860 CausalMutation CLINVAR
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Molecular determinants of α-synuclein mutants' oligomerization and membrane interactions. 25561023 2015
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT The H50Q mutation enhances α-synuclein aggregation, secretion, and toxicity. 24936070 2014
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT A novel α-synuclein missense mutation in Parkinson disease. 23427326 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. 23457019 2013
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementia. 14755719 2004
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease. 9462735 1998
PARKINSON DISEASE 1, AUTOSOMAL DOMINANT (disorder)
0.700 GeneticVariation UNIPROT Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. 9197268 1997
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Patients with idiopathic Parkinson's disease (n = 63), dementia with Lewy bodies (n = 8), and E46K mutation carriers in the α-synuclein gene (E46K-SNCA) (n = 4) and 34 controls underwent Spectralis optical coherence tomography macular scans and a comprehensive battery of visual function and cognition tests. 31136022 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Thereby, overexpressing of α-syn-E46K mimicked a rather pre-symptomatic stage of the disease, while the α-syn-WT overexpressing animals imitated an early symptomatic stage of PD. 30989398 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Here, we used an αS tetramer-abrogating mouse model of PD (3K) that amplifies the familial E46K PD mutation to investigate the effects of female sex and brain-selective estrogen treatment on αS tetramerization and solubility, formation of vesicle-rich αS<sup>+</sup> aggregates, dopaminergic and cortical fiber integrity, and associated motor deficits. 31405930 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE E46K mutant α-synuclein is more degradation resistant and exhibits greater toxic effects than wild-type α-synuclein in Drosophila models of Parkinson's disease. 31242217 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Such E46K-like mutants have been shown to cause dopaminergic neuron loss and severe but L-DOPA-responsive motor defects in mouse overexpression models, presenting enormous translational potential for PD and other "synucleinopathies." 31048377 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE These results support that Crocin is a effective inhibitor of E46K α-synuclein fibrillization and it could be considered as a potential therapeutic agent in the treatment of Parkinson disease. 31111370 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Considering the potential interest of the skin as a target for the development of biomarkers in Parkinson's Disease (PD), in this work we aimed to evaluate structural and functional integrity of small autonomic nerve fibers and phosphorylated alpha-synuclein (p-synuclein) deposition in the skin of E46K-SNCA carriers as compared to those observed in parkin gene mutation (PARK2) carriers and healthy controls. 31178336 2019
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE The cytotoxicity was significantly lower in SH-SY5Y-γ-syn cells, while transient overexpression of wt α-syn or its PD mutants (A30P and E46K, but not A53T) modestly (but still significantly) rescued the cytotoxicity of PA in SH-SY5Y and T98G cells. 29713567 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE In summary, we successfully generated Guangxi Bama minipigs harboring three PD-casusing mutations (E46K, H50Q and G51D) in SCNA. 30127453 2018
Parkinson Disease
CUI: C0030567
Disease: Parkinson Disease
0.100 GeneticVariation BEFREE Here, we generated mice expressing the fPD E46K mutation plus 2 homologous E→K mutations in adjacent KTKEGV motifs. 30308173 2018