MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders

MECP2 mutations affect ciliogenesis: a novel perspective for Rett syndrome and related disorders

Abstract 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 obscur...

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Bibliographic Details
Main Authors: Angelisa Frasca, Eleonora Spiombi, Michela Palmieri, Elena Albizzati, Maria Maddalena Valente, Anna Bergo, Barbara Leva, Charlotte Kilstrup‐Nielsen, Federico Bianchi, Valerio Di Carlo, Ferdinando Di Cunto, Nicoletta Landsberger
Format: Article
Language:English
Published: Springer Nature 2020-06-01
Series:EMBO Molecular Medicine
Subjects:
MeCP2
primary cilium
Rett syndrome
sonic hedgehog
tubacin treatment
Online Access:https://doi.org/10.15252/emmm.201910270

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