2024
Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids
Capauto D, Wang Y, Wu F, Norton S, Mariani J, Inoue F, Crawford G, Ahituv N, Abyzov A, Vaccarino F. Characterization of enhancer activity in early human neurodevelopment using Massively Parallel Reporter Assay (MPRA) and forebrain organoids. Scientific Reports 2024, 14: 3936. PMID: 38365907, PMCID: PMC10873509, DOI: 10.1038/s41598-024-54302-7.Peer-Reviewed Original ResearchMeSH KeywordsEnhancer Elements, GeneticGene Expression RegulationHumansOrganoidsProsencephalonRegulatory Sequences, Nucleic AcidConceptsMassively parallel reporter assaysGene expressionRegulation of gene expressionForebrain organoidsHuman fetal tissuesHigh-throughput assayReporter assayFetal tissuesStem cellsNeurodevelopmentHuman neurodevelopmentActivation signalsEnhanced activityGenesOrganoidsForebrainBrain organoidsAssayBrain
2018
A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons
Capauto D, Colantoni A, Lu L, Santini T, Peruzzi G, Biscarini S, Morlando M, Shneider NA, Caffarelli E, Laneve P, Bozzoni I. A Regulatory Circuitry Between Gria2, miR-409, and miR-495 Is Affected by ALS FUS Mutation in ESC-Derived Motor Neurons. Molecular Neurobiology 2018, 55: 7635-7651. PMID: 29430619, PMCID: PMC6132778, DOI: 10.1007/s12035-018-0884-4.Peer-Reviewed Original ResearchConceptsAmyotrophic lateral sclerosisMotor neuronsFUS mutationsMouse embryonic stem cellsPathogenesis of ALSMiRNA-dependent regulationCorresponding mRNA targetsNeuron-specific RNATypes of RNAEmbryonic stem cellsCross talkGlutamate α-aminoIsoxazole propionic acidDisease-associated mutationsMolecular cross talkDisturbance of Ca2Juvenile-onset formMiRNA repressionRegulatory circuitryTranscriptome profilingMRNA targetsMultifunctional proteinLong RNAsMN degenerationExcitatory neurotransmission
2017
FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons
Errichelli L, Dini Modigliani S, Laneve P, Colantoni A, Legnini I, Capauto D, Rosa A, De Santis R, Scarfò R, Peruzzi G, Lu L, Caffarelli E, Shneider NA, Morlando M, Bozzoni I. FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons. Nature Communications 2017, 8: 14741. PMID: 28358055, PMCID: PMC5379105, DOI: 10.1038/ncomms14741.Peer-Reviewed Original ResearchConceptsMouse motor neuronsCircRNA biogenesisRNA-binding protein FUSEmbryonic stem cell-derived motor neuronsCircular RNA productionRNA biosynthetic processesCircular RNA expressionStem cell-derived motor neuronsCell-derived motor neuronsAmyotrophic lateral sclerosisMost circRNAsFUS mutantsSplicing junctionsProtein FUSSplicing reactionBiosynthetic processesRNA productionToxic gainCircRNAsMotor neuronsBiogenesisRNA expressionFunction activityNuclear levelsFUS