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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Detalhes bibliográficos
Publicado no:Neurobiol Dis
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4380613/
https://ncbi.nlm.nih.gov/pubmed/25644311
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nbd.2015.01.001
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