2022
Cellular and Molecular Pathology in Tourette Syndrome
Fasching L, Brady M, Vaccarino F. Cellular and Molecular Pathology in Tourette Syndrome. 2022, 171-183. DOI: 10.1093/med/9780197543214.003.0012.ChaptersTourette syndromeBasal gangliaAminobutyric acid-ergic interneuronsActive cholinergic interneuronsPathophysiology of TSCholinergic interneuronsPathological findingsMicroglial cellsTic disordersCaudate nucleusCortical hemispherePathogenic mechanismsInterneuronsSyndromeMolecular pathologyGangliaProminent increaseAvailable literatureInflammationPathophysiologyPutamenFindingsPathology
2018
iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome
Landucci E, Brindisi M, Bianciardi L, Catania LM, Daga S, Croci S, Frullanti E, Fallerini C, Butini S, Brogi S, Furini S, Melani R, Molinaro A, Lorenzetti FC, Imperatore V, Amabile S, Mariani J, Mari F, Ariani F, Pizzorusso T, Pinto AM, Vaccarino FM, Renieri A, Campiani G, Meloni I. iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome. Experimental Cell Research 2018, 368: 225-235. PMID: 29730163, PMCID: PMC9410763, DOI: 10.1016/j.yexcr.2018.05.001.Peer-Reviewed Original ResearchConceptsInduced pluripotent stem cellsRett syndromeCircuit disruptionΑ-tubulin deacetylaseNew therapeutic strategiesClassic Rett syndromeCommon neurodevelopmental disorderAcetylated α-tubulinEpileptic behaviorTherapeutic strategiesPathogenic mechanismsPluripotent stem cellsCytoskeleton dynamicsGenetic reprogrammingSyndromeTranscriptome changesRNA-seqNeurodevelopmental disordersSignificant decreaseNeuronsSelective inhibitorPatientsMECP2 geneΑ-tubulinTreatment
2013
Cellular and Molecular Pathology in Tourette Syndrome
Vaccarino F, Kataoka-Sasaki Y, Lennington J. Cellular and Molecular Pathology in Tourette Syndrome. 2013, 205-220. DOI: 10.1093/med/9780199796267.003.0010.Chapters