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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...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Proof

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Publisher copy:
10.1093/hmg/ddy370

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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
Physiology Anatomy and Genetics
Role:
Author
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University of Genoa More from this funder
Compagnia di San Paolo More from this funder
Fondazione Carige More from this funder
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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:
1460-2083
ISSN:
0964-6906
Pubs id:
pubs:935947
URN:
uri:7154d6fa-80e9-47df-8380-532fcb34adf7
UUID:
uuid:7154d6fa-80e9-47df-8380-532fcb34adf7
Local pid:
pubs:935947
Language:
English
Keywords:

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