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Article

Modeling AP2M1 Developmental and Epileptic Encephalopathy in Drosophila

2025-04-14

Abstract excerpt

Genetic defects in AP2M1 , which encodes the μ-subunit of the adaptor protein complex 2 (AP-2) essential for clathrin-mediated endocytosis (CME), 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 knock-down of the Drosophila AP2M1 ortholog, AP-2µ ,...

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Identifiers and source

Literature Corpus work
0f9dd53c-c1ab-5349-a1a9-0a8f5d5bc557
DOI
10.1101/2025.04.11.648441
Open publication

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Modeling AP2M1 Developmental and Epileptic Encephalopathy in DrosophilaDOI 10.1101/2025.04.11.648441
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