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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Detalles Bibliográficos
Autores principales: Finelli, Mattéa J, Aprile, Davide, Castroflorio, Enrico, Jeans, Alexander, Moschetta, Matteo, Chessum, Lauren, Degiacomi, Matteo T, Grasegger, Julia, Lupien-Meilleur, Alexis, Bassett, Andrew, Rossignol, Elsa, Campeau, Philippe M, Bowl, Michael R, Benfenati, Fabio, Fassio, Anna, Oliver, Peter L
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2019
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6360273/
https://www.ncbi.nlm.nih.gov/pubmed/30335140
http://dx.doi.org/10.1093/hmg/ddy370

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