Article
Early-Onset Familial Alzheimer Disease Variant PSEN2 N141I Heterozygosity is Associated with Altered Microglia Phenotype.
Journal of Alzheimer's disease : JAD - 1 Jan 2020
Fung Susan, Smith Carole L, Prater Katherine E, Case Amanda, Green Kevin, Osnis Leah, Winston Chloe, Kinoshita Yoshito, Sopher Bryce, Morrison Richard S, Garden Gwenn A, Jayadev Suman
Abstract excerpt
BACKGROUND: Early-onset familial Alzheimer disease (EOFAD) is caused by heterozygous variants in the presenilin 1 (PSEN1), presenilin 2 (PSEN2), and APP genes. Decades after their discovery, the mechanisms by which these genes cause Alzheimer's disease (AD) or promote AD progression are not fully understood. While it is established that presenilin (PS) enzymatic activity produces amyloid-β (Aβ), PSs also regulate...
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