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 …

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.

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 ...

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.

2022年11月23日 · From this “mega-sample” of exomes, co-first authors Holstege, Marc Hulsman of Amsterdam University Medical Center, and Camille Charbonnier in Normandie found that in SORL1, TREM2, ABCA7, ATP8B4, and ABCA1, rare variants predicted to compromise gene expression or function significantly upped AD risk.

2020年10月22日 · It pinned ApoE4 and ABCA7 as risk genes, and pulled out a novel variant in the intergenic region 5q35. A subsequent ADGC study reported that, among black Americans, those with AD had a higher degree of African ancestry than did unaffected people, suggesting that African genetics influenced disease ( Hohman et al., 2015 ).

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 ...

2019年5月30日 · Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls. Neurobiol Aging. 2017 Nov;59:220.e1-220.e9. Epub 2017 Jul 14 PubMed. Recommends. Please login to recommend the paper. Comments. No Available Comments. Make a Comment. To make a comment you must login or register.

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

2011年9月19日 · ABCA7 came up as a hit in a recent AD genomewide association study (ARF related news story on Hollingworth et al., 2011), and currently sits in the fourth position in the AlzGene Top Results. In the current paper, researchers led by joint first authors Markus Krohn and Cathleen Lange generated APP/PS1 mice deficient in ABCB1, ABCG2, or ABCC1 to ...