Rett syndrome from bench to bedside: recent advances

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...

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Detalles Bibliográficos
Autores principales: Ehinger, Yann, Matagne, Valerie, Villard, Laurent, Roux, Jean-Christophe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: F1000 Research Limited 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871944/
https://www.ncbi.nlm.nih.gov/pubmed/29636907
http://dx.doi.org/10.12688/f1000research.14056.1
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author Ehinger, Yann
Matagne, Valerie
Villard, Laurent
Roux, Jean-Christophe
author_facet Ehinger, Yann
Matagne, Valerie
Villard, Laurent
Roux, Jean-Christophe
author_sort Ehinger, Yann
collection PubMed
description 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.
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spelling pubmed-58719442018-04-09 Rett syndrome from bench to bedside: recent advances Ehinger, Yann Matagne, Valerie Villard, Laurent Roux, Jean-Christophe F1000Res Review 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. F1000 Research Limited 2018-03-26 /pmc/articles/PMC5871944/ /pubmed/29636907 http://dx.doi.org/10.12688/f1000research.14056.1 Text en Copyright: © 2018 Ehinger Y et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution Licence, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review
Ehinger, Yann
Matagne, Valerie
Villard, Laurent
Roux, Jean-Christophe
Rett syndrome from bench to bedside: recent advances
title Rett syndrome from bench to bedside: recent advances
title_full Rett syndrome from bench to bedside: recent advances
title_fullStr Rett syndrome from bench to bedside: recent advances
title_full_unstemmed Rett syndrome from bench to bedside: recent advances
title_short Rett syndrome from bench to bedside: recent advances
title_sort rett syndrome from bench to bedside: recent advances
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5871944/
https://www.ncbi.nlm.nih.gov/pubmed/29636907
http://dx.doi.org/10.12688/f1000research.14056.1
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