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

DEPDC5 mutations have recently been shown to cause epilepsy in humans. Evidence from in vitro studies has implicated DEPDC5 as a negative regulator of mTORC1 during amino acid insufficiency as part of the GATOR1 complex. To investigate the role of DEPDC5 in vivo we generated a null mouse model using...

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Publicado no:Sci Rep
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group UK 2017
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5626732/
https://ncbi.nlm.nih.gov/pubmed/28974734
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-017-12574-2
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