- Abstract:
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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-syndromic hearing loss. TBC1D24 has been implicated in neuronal transmission and maturation, although the molecular function of the gene and the cause of the apparently complex disease spectrum remain...
Expand abstract - Publication status:
- Published
- Peer review status:
- Peer reviewed
- Version:
- Proof
- Files:
-
-
(pdf, 21.5MB)
-
- Publisher copy:
- 10.1093/hmg/ddy370
-
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- Publisher:
- Oxford University Press Publisher's website
- Journal:
- Human Molecular Genetics Journal website
- Publication date:
- 2018-10-17
- Acceptance date:
- 2018-10-09
- DOI:
- EISSN:
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1460-2083
- ISSN:
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0964-6906
- Pubs id:
-
pubs:935947
- URN:
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uri:7154d6fa-80e9-47df-8380-532fcb34adf7
- UUID:
-
uuid:7154d6fa-80e9-47df-8380-532fcb34adf7
- Local pid:
- pubs:935947
- Language:
- English
- Keywords:
- Copyright holder:
- Finelli et al
- Copyright date:
- 2018
- Notes:
- © The Author(s) 2018. Published by Oxford University Press. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited.
- License:
- CC BY
Journal article
The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons
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University of Genoa
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Compagnia di San Paolo
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Fondazione Carige
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