Article
Modeling AP2M1 developmental and epileptic encephalopathy in Drosophila.
Disease models & mechanisms - 1 Nov 2025
Karge Robin A, Fischer Florian P, Schüth Hannah, Wechner Aileen, Peter Sabrina, Kilo Lukas A, Dichter Mato, Voigt Aaron, Tavosanis Gaia, van Loo Karen M J, Koch Henner, Weber Yvonne G, Wolking Stefan
Abstract excerpt
Genetic defects in AP2M1, which encodes the μ-subunit of the adaptor protein complex 2 (AP-2) essential for clathrin-mediated endocytosis, cause a rare form of developmental and epileptic encephalopathy (DEE). In this study, we modeled AP2M1-DEE in Drosophila melanogaster to gain deeper insights into the underlying disease mechanisms. Pan-neuronal RNA interference against the Drosophila AP2M1 ortholog, AP-2µ,...
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