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Article

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function.

Nature structural & molecular biology - 1 Nov 2016

Fischer Baptiste, Lüthy Kevin, Paesmans Jone, De Koninck Charlotte, Maes Ine, Swerts Jef, Kuenen Sabine, Uytterhoeven Valerie, Verstreken Patrik, Versées Wim

Abstract excerpt

Mutations in TBC1D24 cause severe epilepsy and DOORS syndrome, but the molecular mechanisms underlying these pathologies are unresolved. We solved the crystal structure of the TBC domain of the Drosophila ortholog Skywalker, revealing an unanticipated cationic pocket conserved among TBC1D24 homologs. Cocrystallization and biochemistry showed that this pocket binds phosphoinositides phosphorylated at the 4 and 5...

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PMID: 27669036
DOI: 10.1038/nsmb.3297

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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