Article
Altered expression of Presenilin2 impacts endolysosomal homeostasis and synapse function in Alzheimer's disease-relevant brain circuits.
Nature communications - 29 Nov 2024
Perdok Anika, Van Acker Zoë P, Vrancx Céline, Sannerud Ragna, Vorsters Inge, Verrengia Assunta, Callaerts-Végh Zsuzsanna, Creemers Eline, Gutiérrez Fernández Sara, D'hauw Britt, Serneels Lutgarde, Wierda Keimpe, Chávez-Gutiérrez Lucía, Annaert Wim
Abstract excerpt
Rare mutations in the gene encoding presenilin2 (PSEN2) are known to cause familial Alzheimer's disease (FAD). Here, we explored how altered PSEN2 expression impacts on the amyloidosis, endolysosomal abnormalities, and synaptic dysfunction observed in female APP knock-in mice. We demonstrate that PSEN2 knockout (KO) as well as the FAD-associated N141IKI mutant accelerate AD-related pathologies in female mice....
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