Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved]
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 a...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
F1000 Research Ltd
2018-03-01
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| Series: | F1000Research |
| Online Access: | https://f1000research.com/articles/7-398/v1 |
| _version_ | 1811336963655991296 |
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| author | Yann Ehinger Valerie Matagne Laurent Villard Jean-Christophe Roux |
| author_facet | Yann Ehinger Valerie Matagne Laurent Villard Jean-Christophe Roux |
| author_sort | Yann Ehinger |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-04-13T17:47:12Z |
| format | Article |
| id | doaj.art-a9f917d68e484636aa0742da47c40466 |
| institution | Directory Open Access Journal |
| issn | 2046-1402 |
| language | English |
| last_indexed | 2024-04-13T17:47:12Z |
| publishDate | 2018-03-01 |
| publisher | F1000 Research Ltd |
| record_format | Article |
| series | F1000Research |
| spelling | doaj.art-a9f917d68e484636aa0742da47c404662022-12-22T02:36:53ZengF1000 Research LtdF1000Research2046-14022018-03-01710.12688/f1000research.14056.115289Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved]Yann Ehinger0Valerie Matagne1Laurent Villard2Jean-Christophe Roux3Aix Marseille Univ, INSERM, MMG, 13385 Marseille, FranceAix Marseille Univ, INSERM, MMG, 13385 Marseille, FranceAix Marseille Univ, INSERM, MMG, 13385 Marseille, FranceAix Marseille Univ, INSERM, MMG, 13385 Marseille, FranceRett 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.https://f1000research.com/articles/7-398/v1 |
| spellingShingle | Yann Ehinger Valerie Matagne Laurent Villard Jean-Christophe Roux Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] F1000Research |
| title | Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] |
| title_full | Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] |
| title_fullStr | Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] |
| title_full_unstemmed | Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] |
| title_short | Rett syndrome from bench to bedside: recent advances [version 1; referees: 2 approved] |
| title_sort | rett syndrome from bench to bedside recent advances version 1 referees 2 approved |
| url | https://f1000research.com/articles/7-398/v1 |
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