Article
Pathogenic mutations in Clathrin Heavy Chain associated with intellectual disability impair synaptic architecture and learning in <i>Drosophila</i>
2025-08-31
Abstract excerpt
Clathrin-mediated endocytosis is essential for neural development and function. Recent studies have linked de novo mutations in the clathrin heavy chain (Chc) gene to a range of neurodevelopmental disorders. In this study we have modelled two pathogenic mutations: L1047P and W1108R in Drosophila melanogaster and examined their effects on vesicle dynamics, ligand uptake, neuronal development and memory formation....
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Identifiers and source
- Literature Corpus work
- 1bea63e9-eadf-5da7-9980-4ca9c8593df3
- DOI
- 10.1101/2025.08.28.672774
