Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function-Reference-Cited by-同舟云学术

Skywalker-TBC1D24 has a lipid-binding pocket mutated in epilepsy and required for synaptic function

Published:2016-09-26 Issue:11 Volume:23 Page:965-973
ISSN:1545-9993
Container-title:Nature Structural & Molecular Biology
language:en
Short-container-title:Nat Struct Mol Biol

Author:

Fischer Baptiste,Lüthy Kevin^ORCID,Paesmans Jone,De Koninck Charlotte,Maes Ine,Swerts Jef,Kuenen Sabine,Uytterhoeven Valerie,Verstreken Patrik,Versées Wim

Publisher

Springer Science and Business Media LLC

Subject

Molecular Biology,Structural Biology

Link

http://www.nature.com/articles/nsmb.3297.pdf

Reference63 articles.

1. Corbett, M.A. et al. A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Am. J. Hum. Genet. 87, 371–375 (2010).

2. Falace, A. et al. TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy. Am. J. Hum. Genet. 87, 365–370 (2010).

3. Guven, A. & Tolun, A. TBC1D24 truncating mutation resulting in severe neurodegeneration. J. Med. Genet. 50, 199–202 (2013).

4. Milh, M. et al. Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy. Hum. Mutat. 34, 869–872 (2013).

5. Muona, M. et al. A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy. Nat. Genet. 47, 39–46 (2015).

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