2015
Mutation of the Dyslexia-Associated Gene Dcdc2 Enhances Glutamatergic Synaptic Transmission Between Layer 4 Neurons in Mouse Neocortex.
Che A, Truong DT, Fitch RH, LoTurco JJ. Mutation of the Dyslexia-Associated Gene Dcdc2 Enhances Glutamatergic Synaptic Transmission Between Layer 4 Neurons in Mouse Neocortex. Cerebral Cortex 2015, 26: 3705-3718. PMID: 26250775, PMCID: PMC5004750, DOI: 10.1093/cercor/bhv168.Peer-Reviewed Original ResearchConceptsN-methyl-D-aspartate receptor antagonistFunctional synaptic circuitryEvoked glutamate releaseGlutamatergic synaptic transmissionLayer 4 neuronsExcitatory transmissionGlutamate releaseThalamocortical connectionsAmbient glutamateMK-801Receptor antagonistAcute applicationProbability of releaseSomatosensory cortexSynaptic circuitryNMDAR activationSynaptic transmissionSynaptic releaseExcitatory connectivityPostsynaptic NMDARsCortical connectivitySomatosensory neocortexMouse neocortexNMDARNeocortex
2014
DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling
Schueler M, Braun DA, Chandrasekar G, Gee HY, Klasson TD, Halbritter J, Bieder A, Porath JD, Airik R, Zhou W, LoTurco JJ, Che A, Otto EA, Böckenhauer D, Sebire NJ, Honzik T, Harris PC, Koon SJ, Gunay-Aygun M, Saunier S, Zerres K, Bruechle NO, Drenth JP, Pelletier L, Tapia-Páez I, Lifton RP, Giles RH, Kere J, Hildebrandt F. DCDC2 Mutations Cause a Renal-Hepatic Ciliopathy by Disrupting Wnt Signaling. American Journal Of Human Genetics 2014, 96: 81-92. PMID: 25557784, PMCID: PMC4289677, DOI: 10.1016/j.ajhg.2014.12.002.Peer-Reviewed Original ResearchMeSH KeywordsAdaptor Proteins, Signal TransducingAnimalsBeta CateninCiliaComputational BiologyDishevelled ProteinsExonsHEK293 CellsHumansKidneyKidney Diseases, CysticMiceMicroscopy, Electron, TransmissionMicrotubule-Associated ProteinsMutationNIH 3T3 CellsPhenotypePhosphoproteinsWnt Signaling PathwayZebrafishConceptsNPHP-RCWnt inhibitorsΒ-catenin-dependent WntMitotic spindle fibersImportance of WntCiliary axonemeHuman mutationsRenal tubulogenesisWntCiliopathiesSpindle fibersCiliogenesisMutationsDCDC2Dependent mannerKnockdownCentral roleRecessive diseaseInhibitorsMutantsDCDC2 mutationsTubulogenesisAxonemePhenotypeDvl