2019
GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations
Iffland PH, Carson V, Bordey A, Crino PB. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations. Epilepsia 2019, 60: 2163-2173. PMID: 31625153, PMCID: PMC7155771, DOI: 10.1111/epi.16370.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsMeSH KeywordsAnimalsEpilepsyGTPase-Activating ProteinsHumansMalformations of Cortical DevelopmentMutationTOR Serine-Threonine KinasesTumor Suppressor ProteinsConceptsCellular amino acid levelsRegulatory gene mutationsActivator RhebAmino acid levelsProtein complexesSingle geneRegulatory proteinsGene mutationsMechanistic targetNPRL3Rapamycin (mTOR) pathwayMTOR activationMTOR pathwayMutationsNPRL2MTOR inhibitionGenesFocal cortical dysplasia type IIaMTORDEPDC5ProteinPivotal rolePathwayRecent studiesNeuronal excitability
2014
BDNF Promotes Axon Branching of Retinal Ganglion Cells via miRNA-132 and p250GAP
Marler KJ, Suetterlin P, Dopplapudi A, Rubikaite A, Adnan J, Maiorano NA, Lowe AS, Thompson ID, Pathania M, Bordey A, Fulga T, Van Vactor DL, Hindges R, Drescher U. BDNF Promotes Axon Branching of Retinal Ganglion Cells via miRNA-132 and p250GAP. Journal Of Neuroscience 2014, 34: 969-979. PMID: 24431455, PMCID: PMC3891972, DOI: 10.1523/jneurosci.1910-13.2014.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAxonsBrain-Derived Neurotrophic FactorCells, CulturedChick EmbryoFemaleGTPase-Activating ProteinsMiceMice, Inbred C57BLMicroRNAsPregnancyRetinal Ganglion CellsConceptsBrain-derived neurotrophic factorRetinal culturesMiRNA-132Neurotrophin brain-derived neurotrophic factorRetinal ganglion cell axonsAxon branchingGanglion cell axonsRetinal ganglion cellsMouse superior colliculusBDNF actionBDNF treatmentNeurotrophic factorRGC axonsTopographic targetingGanglion cellsCell axonsSuperior colliculusExpression of microRNAsTermination zonesP250GAPProtein levelsVertebrate visual systemAxonsUpregulationMap formation