2012
Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex
Kwan KY, Lam MM, Johnson MB, Dube U, Shim S, Rašin MR, Sousa AM, Fertuzinhos S, Chen JG, Arellano JI, Chan DW, Pletikos M, Vasung L, Rowitch DH, Huang EJ, Schwartz ML, Willemsen R, Oostra BA, Rakic P, Heffer M, Kostović I, Judaš M, Šestan N. Species-Dependent Posttranscriptional Regulation of NOS1 by FMRP in the Developing Cerebral Cortex. Cell 2012, 149: 899-911. PMID: 22579290, PMCID: PMC3351852, DOI: 10.1016/j.cell.2012.02.060.Peer-Reviewed Original ResearchConceptsNeuronal nitric oxide synthase 1Pyramidal neuronsNOS1 mRNANitric oxide synthase 1Mouse pyramidal neuronsOrofacial motor cortexFMRP-deficient miceFragile X syndromeCerebral cortexMotor cortexCognitive dysfunctionEarly synaptogenesisLoss of functionMonogenic causesNeocortical circuitsLayer 5Human neocortexProtein levelsNeuronsIntellectual disabilityBroca's areaNOS1 proteinCortexSynthase 1FXS cases
2009
Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia
Fertuzinhos S, Krsnik Ž, Kawasawa YI, Rašin M, Kwan KY, Chen JG, Judaš M, Hayashi M, Šestan N. Selective Depletion of Molecularly Defined Cortical Interneurons in Human Holoprosencephaly with Severe Striatal Hypoplasia. Cerebral Cortex 2009, 19: 2196-2207. PMID: 19234067, PMCID: PMC2722430, DOI: 10.1093/cercor/bhp009.Peer-Reviewed Original ResearchMeSH KeywordsCerebral CortexCorpus StriatumHoloprosencephalyHumansInfant, NewbornInterneuronsNeurotransmitter AgentsConceptsCortical interneuronsProjection neuronsInterneuron subtypesDorsal forebrainNitric oxide synthase 1Ventral forebrainCortical interneuron diversityGlutamatergic projection neuronsHuman holoprosencephalyInhibitory GABAergic interneuronsCortex of controlCortical interneuron subtypesEarly fetal periodClinical manifestationsInfant casesNeuropeptide YGABAergic interneuronsNeuronal pathogenesisCalretinin expressionInterneuronsFetal periodDifferent subtypesSelective depletionInterneuron diversityForebrain