The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons

Mutations in the Tre2/Bub2/Cdc16 (TBC)1 domain family member 24 (TBC1D24) gene are associated with a range of inherited neurological disorders, from drug-refractory lethal epileptic encephalopathy and DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) to non-syn...

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Main Authors: Finelli, MJ, Aprile, D, Castroflorio, E, Jeans, AF, Moschetta, M, Chessum, L, Degiacomi, MT, Grasegger, J, Lupien-Meilleur, A, Bassett, A, Rossignol, E, Campeau, PM, Bowl, MR, Benfenati, F, Fassio, A, Oliver, PL
格式: Journal article
语言:English
出版: Oxford University Press 2018