State‐of‐the‐art therapies for Rett syndrome - Aix-Marseille Université Access content directly
Journal Articles Developmental Medicine and Child Neurology Year : 2023

State‐of‐the‐art therapies for Rett syndrome


Rett syndrome (RTT) is an X-linked neurogenetic disorder caused by mutations of the MECP2 (methyl-CpG-binding protein 2) gene. Over two decades of work established MeCP2 as a protein with pivotal roles in the regulation of the epigenome, neuronal physiology, synaptic maintenance, and behaviour. Given the genetic aetiology of RTT and the proof of concept of its reversal in a mouse model, considerable efforts have been made to design therapeutic approaches to re-express MeCP2. By being at the forefront of the development of innovative gene therapies, research on RTT is of paramount importance for the treatment of monogenic neurological diseases. Here we discuss the recent advances and challenges of promising genetic strategies for the treatment of RTT including gene replacement therapies, gene/RNA editing strategies, and reactivation of the silenced X chromosome.
Fichier principal
Vignette du fichier
Develop Med Child Neuro - 2022 - Panayotis - State‐of‐the‐art therapies for Rett syndrome.pdf (490.68 Ko) Télécharger le fichier
Origin : Publication funded by an institution

Dates and versions

hal-03809156 , version 1 (27-01-2023)


Attribution - NonCommercial



Nicolas Panayotis, Yann Ehinger, Marie Solenne Felix, Jean‐christophe Roux. State‐of‐the‐art therapies for Rett syndrome. Developmental Medicine and Child Neurology, 2023, ⟨10.1111/dmcn.15383⟩. ⟨hal-03809156⟩
95 View
447 Download



Gmail Facebook X LinkedIn More