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Showing 1–3 of 3 results
Advanced filters: Author: Gaia Colasante Clear advanced filters

  • Dravet syndrome is a devastating epileptic encephalopathy caused by Scn1a gene haploinsufficiency. Exploiting a novel knock-in mouse model, here the authors show that restoring Scn1a expression after symptom onset is sufficient to rescue main phenotypic manifestations of the syndrome.

    • Nicholas Valassina
    • Simone Brusco
    • Gaia Colasante
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-18

  • The usage of specific distal regulatory regions within the genome is critical for fate specification and cell maturation. Here, the authors show that the accumulation of the oncoprotein SET, as occurring in the rare Schinzel-Giedion syndrome, and associated histone hypo-acetylation interfere with normal enhancer repertoire employed during brain development.

    • Mattia Zaghi
    • Federica Banfi
    • Alessandro Sessa
    ResearchOpen Access
    Nature Communications
    Volume: 14, P: 1-21

  • Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by CRISPR based editing.

    • Pietro Giuseppe Mazzara
    • Sharon Muggeo
    • Vania Broccoli
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-18