MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells

MECP2 mutations cause the X-linked neurodevelopmental disorder Rett Syndrome (RTT) by consistently altering the protein encoded by the MECP2e1 alternative transcript. While mutations that simultaneously affect both MECP2e1 and MECP2e2 isoforms have been widely studied, the consequence of MECP2e1 def...

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Detalles Bibliográficos
Autores principales: Djuric, Ugljesa, Cheung, Aaron Y. L., Zhang, Wenbo, Mok, Rebecca S., Lai, Wesley, Piekna, Alina, Hendry, Jason A., Ross, P. Joel, Pasceri, Peter, Kim, Dae-Sung, Salter, Michael W., Ellis, James
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4380613/
https://www.ncbi.nlm.nih.gov/pubmed/25644311
http://dx.doi.org/10.1016/j.nbd.2015.01.001

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