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DEPDC5 gene

Known as: DEP domain containing 5, DEPDC5, DEP.5 
National Institutes of Health

Related topics

Related topics

1 relation
DEPDC1 gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2020
Review
2020
Rufinamide efficacy and association with phenotype and genotype in children with intractable epilepsy: A retrospective single center study
Review
2020
Review
2020
The clinical phenotypes and genetic characteristics of seven epilepsy patients related to heterozygous DEPDC5 variants in China
DEPDC5 together with NPRL2 and NPRL3 forms the GATOR1 which plays an important role in the the mechanistic target of rapamycin… 
2019
2019
Skeletal muscle–specific knockout of DEP domain containing 5 protein increases mTORC1 signaling, muscle cell hypertrophy, and mitochondrial respiration
mTORC1 regulates protein synthesis and in turn is regulated by growth factors, energy status, and amino acid availability. In… 
2018
2018
Architecture of the human GATOR 1 and GATOR 1 – Rag GTPases complexes Citation
Nutrients like amino acids and glucose signal through the heterodimeric Rag GTPases to activate mTORC1. Several protein complexes… 
2017
2017
De novo mutation in DEPDC5 associated with unilateral pachygyria and intractable epilepsy
2015
2015
Characterization of the epilepsy gene DEPDC5 in a mouse embryonic stem cell model. (P4.252)
OBJECTIVE: To study the function of a gene involved in familial focal epilepsy and the consequences of its haploinsufficiency on… 
2013
2013
A Tumor Suppressor Complex with GAP Activity for the Rag GTPases That Signal Amino Acid Sufficiency to mTORC 1 Citation
The mTOR Complex 1 (mTORC1) pathway promotes cell growth in response to many cues, including amino acids, which act through the… 
2013
2013
Novel DEPDC5 mutations causing familial focal epilepsy with variable foci identified
Mutations in DEPDC5 cause familial focal epilepsy with variable foci 
2013
2013
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies
Epilepsy: Discovery of DEPDC5 mutations provides further evidence of a genetic link to inherited focal epilepsies 
2013
2013
Mutations in DEPDC5 : A major cause of familial focal epilepsy
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