Article
APOE loss-of-function variants: Compatible with longevity and associated with resistance to Alzheimer's disease pathology.
Neuron - 3 Apr 2024
Chemparathy Augustine, Le Guen Yann, Chen Sunny, Lee Eun-Gyung, Leong Lesley, Gorzynski John E, Jensen Tanner D, Ferrasse Alexis, Xu Guangxue, Xiang Hong, Belloy Michael E, Kasireddy Nandita, Peña-Tauber Andrés, Williams Kennedy, Stewart Ilaria, Talozzi Lia, Wingo Thomas S, Lah James J, Jayadev Suman, Hales Chadwick M, Peskind Elaine, Child Daniel D, Roeber Sigrun, Keene C Dirk, Cong Le, Ashley Euan A, Yu Chang-En, Greicius Michael D
Abstract excerpt
The ε4 allele of apolipoprotein E (APOE) is the strongest genetic risk factor for sporadic Alzheimer's disease (AD). Knockdown of ε4 may provide a therapeutic strategy for AD, but the effect of APOE loss of function (LoF) on AD pathogenesis is unknown. We searched for APOE LoF variants in a large cohort of controls and patients with AD and identified seven heterozygote carriers of APOE LoF variants. Five carriers...
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