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

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

NATURE STRUCTURAL & MOLECULAR BIOLOGY（2016）

引用 49|浏览16

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摘要

Structural, biochemical and functional analyses elucidate the mechanisms by which mutations in the TBC1D24 gene interfere with protein function, thus causing early-onset epilepsy and DOORS syndrome.

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关键词

GTP-binding protein regulators,X-ray crystallography,Membrane trafficking

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