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Genes (13)
Species: human : 13 | |
Human | LRRK2 | 120892 | leucine-rich repeat kinase 2 | Lrrk2 G2019S was observed in approximately 2% (n = 8) of Parkinson's disease/Lewy body disease cases (n = 405) | Human | RPH3A | 22895 | rabphilin 3A homolog (mouse) | Since rab3a participates in the docking and fusion of synaptic vesicles, and rabsa binding to alpha-synuclein is increased in Lewy body disease (LBD), it can be suggested that exocytosis of neurotransmitters may be impaired in LBD | Human | TUBA1B | 10376 | tubulin, alpha 1b | accumulation of alpha-synuclein might contribute to the pathogenesis of PD and other Lewy body diseases by promoting alterations in parkin and tubulin solubility | Human | TH | 7054 | tyrosine hydroxylase | Reduced striatal tyrosine hydroxylase in incidental Lewy body disease | Human | SNCA | 6622 | synuclein, alpha (non A4 component of amyloid precursor) | Results use data from multidimensional NMR spectroscopy to elucidate the molecular interactions between Abeta peptide and alpha-synuclein which may lead to onset of Lewy body dementia Although SNCA multiplication is a rare cause of Parkinson disease & Lewy body dementia, this study suggests other genetic variation in the SNCA gene, in trans-acting factors, & in post-transcriptional regulatory elements are likely to influence disease gene multiplication appears not to be a major cause in the pathogenesis of sporadic Lewy body disease and young onset Parkinson disease in European population In cases of Lewy body disease (LBD), alpha-synuclein does not exhibit binding to rabphilin but rather to rab3a, suggesting possible impairment of neurotransmitter exocytosis in LBD Preferential accumulation of normally produced Ser-129 phosphorylated alpha-synuclein is the key event responsible for the formation of Lewy bodies in various Lewy body diseases accumulation of alpha-synuclein might contribute to the pathogenesis of PD and other Lewy body diseases by promoting alterations in parkin and tubulin solubility Pathologically confirmed Lewy body disease clinically characterized by progressive parkinsonism and cognitive dysfunction is caused by SNCA duplication | Human | SLC6A3 | 6531 | solute carrier family 6 (neurotransmitter transporter), member 3 | Significant reductions in dopamine transporter occur in the caudate and anterior and posterior putamens in subjects with Lewy body dementia compared with subjects with Alzheimer disease and controls | Human | PARK2 | 5071 | parkinson protein 2, E3 ubiquitin protein ligase (parkin) | accumulation of alpha-synuclein might contribute to the pathogenesis of PD and other Lewy body diseases by promoting alterations in parkin and tubulin solubility parkin is S-nitrosylated in vitro, as well as in vivo in brains of patients with Parkinson's disease and diffuse Lewy body disease; S-nitrosylation inhibits parkin's ubiquitin E3 ligase activity and its protective function | Human | NR4A2 | 4929 | nuclear receptor subfamily 4, group A, member 2 | The common heterozygous NI6P is associated with an increased risk of Parkinson disease and an association of borderline significance was found for the homozygous NI6P and diffuse Lewy body disease | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Unlikely that the polymorphism Glu/Asp of the NOS3 gene is involved in the development of Alzheimer's dementia and Lewy body disease | Human | GBA | 2629 | glucosidase, beta, acid | In the homozygous and heterozygous states, GBA mutations are associated with a spectrum of parkinsonian phenotypes ranging from Parkinson disease, mostly of the akinetic type, to a less common phenotype characteristic of Lewy body dementia | Human | AQP4 | 361 | aquaporin 4 | Significant increased expression levels of AQP1 and AQP4 were seen in Creutzfeldt-Jakob disease, but not in advanced Alzheimer's disease and diffuse Lewy body disease | Human | APP | 351 | amyloid beta (A4) precursor protein | Beta-amyloid may contribute selectively to cognitive impairment of Lewy body disease and may contribute to timing of dementia relative to motor signs of parkinsonism | Human | APOE | 348 | apolipoprotein E | APOE epsilon4+ (epsilon4+/epsilon4 + or epsilon4+/epsilon4-) genotype is more frequent in Alzheimer disease and Lewy body dementia |
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