Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling-Reference-Cited by-同舟云学术

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling

Published:2017-10-03 Issue:1 Volume:7 Page:
ISSN:2045-2322
Container-title:Scientific Reports
language:en
Short-container-title:Sci Rep

Author:

Hughes James,Dawson Ruby,Tea Melinda,McAninch Dale,Piltz Sandra,Jackson Dominique,Stewart Laura,Ricos Michael G.,Dibbens Leanne M.,Harvey Natasha L.,Thomas Paul

Publisher

Springer Science and Business Media LLC

Subject

Multidisciplinary

Link

http://www.nature.com/articles/s41598-017-12574-2.pdf

Reference51 articles.

1. Dibbens, L. M. et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat. Genet. 45, 546–551 (2013).

2. Ishida, S. et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat. Genet. 45, 552–555 (2013).

3. Lal, D. et al. DEPDC5 mutations in genetic focal epilepsies of childhood. Ann. Neurol. 75, 788–792 (2014).

4. Bar-Peled, L. et al. A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 340, 1100–1106 (2013).

5. Ricos, M. G. et al. Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. Ann. Neurol. 79, 120–131 (2016).

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