Article
A PKCη missense mutation enhances Golgi-localized signaling and is associated with recessively inherited familial Alzheimer's disease.
Science signaling - 1 Jul 2025
Gauron Maria Celeste, Prokopenko Dmitry, Lee Sanghun, Wolfe Sarah A, Hecker Julian, Willett Julian, Waqas Mohammad, Lordén Gema, Yang Yimin, Mayfield Joshua E, Castanho Isabel, Mullin Kristina, Morgan Sarah, Hahn Georg, Demeo Dawn L, Hide Winston, Bertram Lars, Lange Christoph, Newton Alexandra C, Tanzi Rudolph E
Abstract excerpt
The identification of Alzheimer's disease (AD)-associated genomic variants has provided powerful insight into disease etiology. Genome-wide association studies (GWASs) of AD have successfully identified previously unidentified targets but have almost exclusively used additive genetic models. Here, we performed a family-based GWAS of a recessive inheritance model using whole-genome sequencing from families...
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