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Rett syndrome from bench to bedside: recent advances.

ABSTRACT: Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.

SUBMITTER: Ehinger Y 

PROVIDER: S-EPMC5871944 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature

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Rett syndrome from bench to bedside: recent advances.

Ehinger Yann Y   Matagne Valerie V   Villard Laurent L   Roux Jean-Christophe JC  

F1000Research 20180326

Rett Syndrome is a severe neurological disorder mainly due to <i>de novo</i> mutations in the methyl-CpG-binding protein 2 gene ( <i>MECP2</i>). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to c  ...[more]

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