MeCP2 mutations: progress towards understanding and treating Rett syndrome

Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 funct...

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Detalles Bibliográficos
Autores principales: Shah, Ruth R., Bird, Adrian P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Comment
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316219/
https://www.ncbi.nlm.nih.gov/pubmed/28212680
http://dx.doi.org/10.1186/s13073-017-0411-7
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author Shah, Ruth R.
Bird, Adrian P.
author_facet Shah, Ruth R.
Bird, Adrian P.
author_sort Shah, Ruth R.
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description Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain.
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spelling pubmed-53162192017-02-24 MeCP2 mutations: progress towards understanding and treating Rett syndrome Shah, Ruth R. Bird, Adrian P. Genome Med Comment Rett syndrome is a profound neurological disorder caused by mutations in the MECP2 gene, but preclinical research has indicated that it is potentially treatable. Progress towards this goal depends on the development of increasingly relevant model systems and on our improving knowledge of MeCP2 function in the brain. BioMed Central 2017-02-17 /pmc/articles/PMC5316219/ /pubmed/28212680 http://dx.doi.org/10.1186/s13073-017-0411-7 Text en © The Author(s). 2017 Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.
spellingShingle Comment
Shah, Ruth R.
Bird, Adrian P.
MeCP2 mutations: progress towards understanding and treating Rett syndrome
title MeCP2 mutations: progress towards understanding and treating Rett syndrome
title_full MeCP2 mutations: progress towards understanding and treating Rett syndrome
title_fullStr MeCP2 mutations: progress towards understanding and treating Rett syndrome
title_full_unstemmed MeCP2 mutations: progress towards understanding and treating Rett syndrome
title_short MeCP2 mutations: progress towards understanding and treating Rett syndrome
title_sort mecp2 mutations: progress towards understanding and treating rett syndrome
topic Comment
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5316219/
https://www.ncbi.nlm.nih.gov/pubmed/28212680
http://dx.doi.org/10.1186/s13073-017-0411-7
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