Projects per year
Abstract
Genetic mutations in TBC1D24 have been associated with multiple phenotypes, with epilepsy being the main clinical manifestation. The TBC1D24 protein consists of the unique association of a Tre2/Bub2/Cdc16 (TBC) domain and a TBC/lysin motif domain/catalytic (TLDc) domain. More than 50 missense and loss-of-function mutations have been described and are spread over the entire protein.
| Date made available | 17 Jul 2019 |
|---|---|
| Publisher | Protein Data Bank in Europe |
Keywords
- TBC1D24
- TLDc
- epilespy
- oxidative stress
- Skywalker
Format
- Format
- pdb
- mmCIF
- mtz
- fasta
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FWOAL851: Molecular and functional studies of TBC1D24, an unconventional RabGaP linking epilepsy and the regularization of synaptic activity
1/01/17 → 31/12/20
Project: Fundamental
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TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model
Lüthy, K., Mei, D., Fischer, B., De Fusco, M., Swerts, J., Paesmans, J., Parrini, E., Lubarr, N., Meijer, I. A., Mackenzie, K. M., Lee, W-T., Cittaro, D., Aridon, P., Schoovaerts, N., Versées, W., Verstreken, P., Casari, G. & Guerrini, R., 1 Aug 2019, In: Brain. 142, 8, p. 2319-2335 17 p.Research output: Contribution to journal › Article › peer-review
Open AccessFile45 Citations (Scopus)132 Downloads (Pure) -
TBC1D24-skywalker has a lipid-binding pocket mutated in epilepsy and required for synaptic function
Paesmans, J., Versees, W., Fischer, B., Verstreken, P. & Lüthy, K., 9 May 2018, (Unpublished).Research output: Unpublished contribution to conference › Poster