2023
Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors
Dell'Amico C, Salavarria M, Takeo Y, Saotome I, Dell'Anno M, Galimberti M, Pellegrino E, Cattaneo E, Louvi A, Onorati M. Microcephaly-associated protein WDR62 shuttles from the Golgi apparatus to the spindle poles in human neural progenitors. ELife 2023, 12: e81716. PMID: 37272619, PMCID: PMC10241521, DOI: 10.7554/elife.81716.Peer-Reviewed Original ResearchConceptsHuman fetal brain tissueStructural brain abnormalitiesC-terminal truncating mutationsFetal brain tissueEtiology of microcephalySevere neurodevelopmental abnormalitiesStem cellsNeuroepithelial stem cellsHuman neural progenitorsHuman brain developmentBrain abnormalitiesCommon causeNeurodevelopmental abnormalitiesAutosomal recessive primary microcephalyBrain tissueBrain developmentCerebral organoidsMicrocephalyUnaffected parentsTruncating mutationsNeural progenitorsHuman neurodevelopmentAbnormalitiesPleiotropic functionsCritical hub
2008
Linking Notch signaling to ischemic stroke
Arboleda-Velasquez JF, Zhou Z, Shin HK, Louvi A, Kim HH, Savitz SI, Liao JK, Salomone S, Ayata C, Moskowitz MA, Artavanis-Tsakonas S. Linking Notch signaling to ischemic stroke. Proceedings Of The National Academy Of Sciences Of The United States Of America 2008, 105: 4856-4861. PMID: 18347334, PMCID: PMC2290794, DOI: 10.1073/pnas.0709867105.Peer-Reviewed Original ResearchConceptsVascular smooth muscle cellsSmooth muscle cellsGenetic rescue experimentsUnderlying cellular pathwaysSpecific gene targetsKnockout mouse modelCellular pathwaysIschemic strokeGene targetsRescue experimentsSMC functionLong-term neurological disabilityMolecular analysisPathophysiology of strokeIschemic phenotypeMuscle cellsNotch-3Neurological disabilityCommon causeMouse modelStriking susceptibilityParaloguesStrokeNotchPhenotype