Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

Loss of function of the X-linked gene encoding methyl-CpG binding protein 2 (MeCP2) causes the progressive neurological disorder Rett syndrome (RTT). Conversely, duplication or triplication of Xq28 causes an equally wide-ranging progressive neurological disorder, MECP2 duplication syndrome, whose fe...

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Bibliographic Details
Main Authors: Heckman, Laura Dean, Chahrour, Maria H, Zoghbi, Huda Y
Format: Artigo
Language:Inglês
Published: eLife Sciences Publications, Ltd 2014
Subjects:
Human Biology and Medicine
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4102243/
https://ncbi.nlm.nih.gov/pubmed/24970834
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.02676
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