Article
Genetic Variations in ABCA7 Can Increase Secreted Levels of Amyloid-β40 and Amyloid-β42 Peptides and ABCA7 Transcription in Cell Culture Models.
Journal of Alzheimer's disease : JAD - 13 Jun 2016
Bamji-Mirza Michelle, Li Yan, Najem Dema, Liu Qing Yan, Walker Douglas, Lue Lih-Fen, Stupak Jacek, Chan Kenneth, Li Jianjun, Ghani Mahdi, Yang Ze, Rogaeva Ekaterina, Zhang Wandong
Abstract excerpt
Alzheimer's disease (AD) is characterized by extracellular deposits of amyloid-β (Aβ) in the brain. ABCA7 is highly expressed in the brain and a susceptibility gene for late-onset AD (LOAD). The minor alleles at two ABCA7 single-nucleotide polymorphisms (SNPs), rs3764650 (T>G; intron13) and rs3752246 at a predicted myristoylation site (C>G; exon33; p.Gly1527Ala), are significantly associated with LOAD risk;...
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