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

Abstract 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) t...

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Veröffentlicht in:	Human molecular genetics 2019-02, Vol.28 (4), p.584-597
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Amino Acid Sequence - genetics Animals Carrier Proteins - genetics Craniofacial Abnormalities - genetics Craniofacial Abnormalities - physiopathology Disease Models, Animal Endocytosis - genetics Epilepsy - genetics Epilepsy - physiopathology Exome - genetics Gene Expression Regulation GTPase-Activating Proteins Hand Deformities, Congenital - genetics Hand Deformities, Congenital - physiopathology Haploinsufficiency Hearing Loss, Sensorineural - genetics Hearing Loss, Sensorineural - physiopathology Humans Intellectual Disability - genetics Intellectual Disability - physiopathology Membrane Proteins Mice Mutation Nails, Malformed - genetics Nails, Malformed - physiopathology Nerve Tissue Proteins Neuronal Plasticity - genetics Neurons - metabolism Neurons - pathology Pedigree Seizures - genetics Seizures - physiopathology
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