| Literature DB >> 27114526 |
Karima Bettayeb1, Basaraj V Hooli2, Antonio R Parrado2, Lisa Randolph1, Dante Varotsis1, Suvekshya Aryal1, Jodi Gresack1, Rudolph E Tanzi2, Paul Greengard3, Marc Flajolet3.
Abstract
Cellular trafficking and recycling machineries belonging to late secretory compartments have been associated with increased Alzheimer's disease (AD) risk. We have shown that coat protein complex I (COPI)-dependent trafficking, an early step in Golgi-to-endoplasmic reticulum retrograde transport, affects amyloid precursor protein subcellular localization, cell-surface expression, as well as its metabolism. We present here a set of experiments demonstrating that, by targeting subunit δ-COP function, the moderation of the COPI-dependent trafficking in vivo leads to a significant decrease in amyloid plaques in the cortex and hippocampus of neurological 17 mice crossed with the 2xTg AD mouse model. Remarkably, an improvement of the memory impairments was also observed. Importantly, human genetic association studies of different AD cohorts led to the identification of 12 SNPs and 24 mutations located in COPI genes linked to an increased AD risk. These findings further demonstrate in vivo the importance of early trafficking steps in AD pathogenesis and open new clinical perspectives.Entities:
Keywords: Alzheimer; COPI; EWAS studies; GWAS studies; human genetic
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Year: 2016 PMID: 27114526 PMCID: PMC4868486 DOI: 10.1073/pnas.1604176113
Source DB: PubMed Journal: Proc Natl Acad Sci U S A ISSN: 0027-8424 Impact factor: 11.205