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  1. Article: Usefulness and Limitations of Comprehensive Characterization of mRNA Splicing Profiles in the Definition of the Clinical Relevance of

    Gelli, Elisa / Colombo, Mara / Pinto, Anna Maria / De Vecchi, Giovanna / Foglia, Claudia / Amitrano, Sara / Morbidoni, Valeria / Imperatore, Valentina / Manoukian, Siranoush / Baldassarri, Margherita / Lo Rizzo, Caterina / Catania, Lorenza / Frullanti, Elisa / Tagliafico, Enrico / Cortesi, Laura / Spaggiari, Federica / Mencarelli, Maria Antonietta / Trevisson, Eva / Radice, Paolo /
    Renieri, Alessandra / Ariani, Francesca

    Cancers

    2019  Volume 11, Issue 3

    Abstract: Highly penetrant variants ... ...

    Abstract Highly penetrant variants of
    Language English
    Publishing date 2019-03-01
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2527080-1
    ISSN 2072-6694
    ISSN 2072-6694
    DOI 10.3390/cancers11030295
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: iPSC-derived neurons profiling reveals GABAergic circuit disruption and acetylated α-tubulin defect which improves after iHDAC6 treatment in Rett syndrome.

    Landucci, Elisa / Brindisi, Margherita / Bianciardi, Laura / Catania, Lorenza M / Daga, Sergio / Croci, Susanna / Frullanti, Elisa / Fallerini, Chiara / Butini, Stefania / Brogi, Simone / Furini, Simone / Melani, Riccardo / Molinaro, Angelo / Lorenzetti, Flaminia Clelia / Imperatore, Valentina / Amabile, Sonia / Mariani, Jessica / Mari, Francesca / Ariani, Francesca /
    Pizzorusso, Tommaso / Pinto, Anna Maria / Vaccarino, Flora M / Renieri, Alessandra / Campiani, Giuseppe / Meloni, Ilaria

    Experimental cell research

    2018  Volume 368, Issue 2, Page(s) 225–235

    Abstract: Mutations in MECP2 gene have been identified in more than 95% of patients with classic Rett syndrome, one of the most common neurodevelopmental disorders in females. Taking advantage of the breakthrough technology of genetic reprogramming, we ... ...

    Abstract Mutations in MECP2 gene have been identified in more than 95% of patients with classic Rett syndrome, one of the most common neurodevelopmental disorders in females. Taking advantage of the breakthrough technology of genetic reprogramming, we investigated transcriptome changes in neurons differentiated from induced Pluripotent Stem Cells (iPSCs) derived from patients with different mutations. Profiling by RNA-seq in terminally differentiated neurons revealed a prominent GABAergic circuit disruption along with a perturbation of cytoskeleton dynamics. In particular, in mutated neurons we identified a significant decrease of acetylated α-tubulin which can be reverted by treatment with selective inhibitors of HDAC6, the main α-tubulin deacetylase. These findings contribute to shed light on Rett pathogenic mechanisms and provide hints for the treatment of Rett-associated epileptic behavior as well as for the definition of new therapeutic strategies for Rett syndrome.
    MeSH term(s) Acetylation ; Cell Differentiation/physiology ; Female ; GABAergic Neurons/metabolism ; GABAergic Neurons/physiology ; Histone Deacetylase 6/metabolism ; Humans ; Induced Pluripotent Stem Cells/physiology ; Male ; Rett Syndrome/metabolism ; Rett Syndrome/physiopathology ; Tubulin/metabolism
    Chemical Substances Tubulin ; HDAC6 protein, human (EC 3.5.1.98) ; Histone Deacetylase 6 (EC 3.5.1.98)
    Language English
    Publishing date 2018-05-04
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1493-x
    ISSN 1090-2422 ; 0014-4827
    ISSN (online) 1090-2422
    ISSN 0014-4827
    DOI 10.1016/j.yexcr.2018.05.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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