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Chronic mTORC1 inhibition rescues behavioral and biochemical deficits resulting from neuronal Depdc5 loss in mice

DEPDC5 is now recognized as one of the genes most often implicated in familial/inherited focal epilepsy and brain malformations. Individuals with pathogenic variants in DEPDC5 are at risk for epilepsy, associated neuropsychiatric comorbidities and sudden unexplained death in epilepsy. Depdc5(flox/fl...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Yuskaitis, Christopher J, Rossitto, Leigh-Ana, Gurnani, Sarika, Bainbridge, Elizabeth, Poduri, Annapurna, Sahin, Mustafa
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6736288/
https://ncbi.nlm.nih.gov/pubmed/31174205
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddz123
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