Article
MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders.
EMBO molecular medicine - 8 Jun 2020
Frasca Angelisa, Spiombi Eleonora, Palmieri Michela, Albizzati Elena, Valente Maria Maddalena, Bergo Anna, Leva Barbara, Kilstrup-Nielsen Charlotte, Bianchi Federico, Di Carlo Valerio, Di Cunto Ferdinando, Landsberger Nicoletta
Abstract excerpt
Mutations in MECP2 cause several neurological disorders of which Rett syndrome (RTT) represents the best-defined condition. Although mainly working as a transcriptional repressor, MeCP2 is a multifunctional protein revealing several activities, the involvement of which in RTT remains obscure. Besides being mainly localized in the nucleus, MeCP2 associates with the centrosome, an organelle from which primary cilia...
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