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

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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Bibliographic Details
Main Authors: Ugljesa Djuric, Aaron Y.L. Cheung, Wenbo Zhang, Rebecca S. Mok, Wesley Lai, Alina Piekna, Jason A. Hendry, P. Joel Ross, Peter Pasceri, Dae-Sung Kim, Michael W. Salter, James Ellis
Format: Article
Language:English
Published: Elsevier 2015-04-01
Series:Neurobiology of Disease
Subjects:
iPS cell disease models
Rett syndrome
MeCP2
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115000133

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http://www.sciencedirect.com/science/article/pii/S0969996115000133

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