Journal article
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) 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
Actions
Access Document
- Files:
-
-
(Proof, pdf, 21.5MB)
-
- Publisher copy:
- 10.1093/hmg/ddy370
Why is the content I wish to access not available via ORA?
Bibliographic data (the information relating to research outputs) and full-text items (e.g. articles, theses, reports, etc.) arrive in ORA from several different sources. Unfortunately we are not able to make available the full-text for every research output.
Please contact the ORA team (
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
) if you have queries regarding unavailable content OR if you are aware of a full-text copy we can make available.
Content may be unavailable for the following four reasons
-
Version unsuitable
-
We have not obtained a suitable full-text for a given research output. See this page for more information.
-
Recently completed
-
Sometimes content is held in ORA but is unavailable for a fixed period of time to comply with the policies and wishes of rights holders.
-
Permissions
-
All content made available in ORA should comply with relevant rights, such as copyright. See this page for more information.
-
Clearance
-
Some thesis volumes scanned as part of the digitisation scheme funded by Dr Leonard Polonsky are currently unavailable due to sensitive material or uncleared third-party copyright content. We are attempting to contact authors whose theses are affected.
Alternative access to the full-text
You may be able to access the full-text directly from the publisher's website using the 'Publisher Copy' link in the 'Links & Downloads' box from a research output's ORA record page. This method may require an institutional or individual subscription to the journal/resource.
Authors
Funding
+ European Research Council
More from this funder
Funding agency for:
Oliver, PL
Grant:
MR/P502005/1
University of Genoa
More from this funder
Compagnia di San Paolo
More from this funder
Fondazione Carige
More from this funder
Expand funders...
Bibliographic Details
- 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:
-
1460-2083
- ISSN:
-
0964-6906
- Pmid:
-
30335140
- Source identifiers:
-
935947
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:935947
- UUID:
-
uuid:7154d6fa-80e9-47df-8380-532fcb34adf7
- Local pid:
- pubs:935947
- Deposit date:
- 2018-11-01
Terms of use
- 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.
- Licence:
- CC Attribution (CC BY)
If you are the owner of this record, you can report an update to it here: Report update to this record