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Article

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

Human molecular genetics - 1 Sept 2019

Yuskaitis Christopher J, Rossitto Leigh-Ana, Gurnani Sarika, Bainbridge Elizabeth, Poduri Annapurna, Sahin Mustafa

Abstract excerpt

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. Depdc5flox/flox-Syn1Cre (Depdc5cc+) neuronal-specific Depdc5 knockout mice exhibit seizures and neuronal mTORC1 hyperactivation....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mechanistic Target of Rapamycin Complex 1

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Source

Open in PubMed Open full text

Identifiers

PMID: 31174205
DOI: 10.1093/hmg/ddz123
PMCID: PMC6736288

Genes

DEPDC5
NPRL2
NPRL3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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