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Methyl-CpG binding protein 2 (MECP2) is a widely abundant, multifunctional regulator of gene expression with highest levels of expression in mature neurons. In humans, both loss- and gain-of-function mutations of

Methyl-CpG binding protein 2 (MECP2) is a widely abundant, multifunctional regulator of gene expression with highest levels of expression in mature neurons. In humans, both loss- and gain-of-function mutations of MECP2 cause mental retardation and motor dysfunction classified as either Rett Syndrome (RTT, loss-of-function) or MECP2 Duplication Syndrome (MDS, gain-of-function). At the cellular level, MECP2 mutations cause both synaptic and dendritic defects.

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    Date Created
    • 2015
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  • Text
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    • Partial requirement for: Ph.D., Arizona State University, 2015
      Note type
      thesis
    • Includes bibliographical references
      Note type
      bibliography
    • Field of study: Neuroscience

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    by Alison Williams

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