| http://purl.uniprot.org/citations/26523971 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/26523971 | http://www.w3.org/2000/01/rdf-schema#comment | "Focal malformations of cortical development (FMCDs) account for the majority of drug-resistant pediatric epilepsy. Postzygotic somatic mutations activating the phosphatidylinositol-4,5-bisphosphate-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway are found in a wide range of brain diseases, including FMCDs. It remains unclear how a mutation in a small fraction of cells disrupts the architecture of the entire hemisphere. Within human FMCD-affected brain, we found that cells showing activation of the PI3K-AKT-mTOR pathway were enriched for the AKT3(E17K) mutation. Introducing the FMCD-causing mutation into mouse brain resulted in electrographic seizures and impaired hemispheric architecture. Mutation-expressing neural progenitors showed misexpression of reelin, which led to a non-cell autonomous migration defect in neighboring cells, due at least in part to derepression of reelin transcription in a manner dependent on the forkhead box (FOX) transcription factor FOXG1. Treatments aimed at either blocking downstream AKT signaling or inactivating reelin restored migration. These findings suggest a central AKT-FOXG1-reelin signaling pathway in FMCD and support pathway inhibitors as potential treatments or therapies for some forms of focal epilepsy."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.org/dc/terms/identifier | "doi:10.1038/nm.3982"xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Kim S."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Song S."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Gleeson J.G."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Yun E.J."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Kwon S.K."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Kang H.C."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Mathern G.W."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Schaffer A.E."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Guemez-Gamboa A."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Baek S.T."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/author | "Copeland B."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/date | "2015"xsd:gYear |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/name | "Nat Med"xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/pages | "1445-1454"xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/title | "An AKT3-FOXG1-reelin network underlies defective migration in human focal malformations of cortical development."xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://purl.uniprot.org/core/volume | "21"xsd:string |
| http://purl.uniprot.org/citations/26523971 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/26523971 |
| http://purl.uniprot.org/citations/26523971 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/26523971 |
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| http://purl.uniprot.org/uniprot/#_P55316-mappedCitation-26523971 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/26523971 |