ABCA7 could impact AD pathogenesis through a variety of mechanisms, including regulation of APP processing and clearance of Aβ through phagocytosis. Overall, the identification of ABCA7 as an AD risk factor further strengthens the importance of lipid homeostasis in …

CRISPR/cas9 was used to generate a knock-out mutation of the Abca7 gene of double mutant mice with a humanized APOE4 gene and the p.R47H point mutation knocked into the mouse Trem2 gene (B6(SJL)-Apoe tm1.1(APOE*4)Adiuj Trem2 em1Adiuj/J, The Jackson Laboratory Stock# 028709). To humanize the mouse Apoe gene, exons 2, 3 and most of exon 4 of the ...

2018年11月30日 · The p.A1527G allele of Abca7 is a common variant (minor allele frequency 0.16 in ExAc and HEX), which imparts a slightly increased risk for AD (odds ratio approximately 1.1, Kunkle et al., 2018). This triple mutant line carries a humanized APOE4 gene, the p.R47H mutation knocked into mouse Trem2, and the p.A1527G mutation knocked into mouse Abca7.

2011年4月5日 · Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May;43(5):429-35. PubMed. Recommends. Please login to recommend the paper. Comments. Rudy Tanzi Massachusetts General Hospital; Posted: 05 Apr 2011; News: Large Genetic Analysis Pays Off With New AD Risk Genes

2024年9月4日 · Among 85 GWAS hits, 37 were closely linked with a structural variant. Some, including ADAM10, SLC2A4RG, and CD2AP, were tied to more than one. For three genes—APOC1, SPI1, and ABCA7—the researchers found a significant association between the structural variant and AD risk within their cohort.

2020年7月31日 · For TREM2, ABCA7, ATP8B4, CBX3, and PRSS3, the majority of the signal was derived from variants that were identified in multiple people, but were still very rare. The findings presented in the medRxiv preprint need to be replicated in an independent set of sequence data from AD patients and non-demented individuals, Holstege noted.

2024年9月19日 · They found, for example, that the A1527G variant in ABCA7 provoked expression changes in groups of genes involved in immune responses, cell cycle, myelination, and cellular stress responses, which corresponded to AD-related modules found in people. On the other hand, variants in SORL1 and PLCG2 genes skewed modules of neuron-related pathways.

Dib S, Pahnke J, Gosselet F.Role of ABCA7 in Human Health and in Alzheimer's Disease. Int J Mol Sci. 2021 Apr 27;22(9) PubMed.

ABCA7 haplodeficiency disturbs microglial immune responses in the mouse brain. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23790-23796. Epub 2019 Nov 5 PubMed. Recommends. Please login to recommend the paper. Comments. No Available Comments. Make a Comment. To make a comment you must login or register.

2015年3月26日 · Although ABCA7 is a member of the “A” subfamily of ATP-binding cassette transporters that were initially characterized by their capacity to transport lipids across membranes (Kim et al., 2013), unlike its closest homologue (ABCA1), ABCA7 does not appear to play a major role in transporting cholesterol across cell membranes to lipid-free ...