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Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delays, intellectual disabilities, impaired language and speech, and movement defects. Most AS cases are caused by dysfunction of a maternally-expressed

Angelman syndrome (AS) is a neurodevelopmental disorder characterized by developmental delays, intellectual disabilities, impaired language and speech, and movement defects. Most AS cases are caused by dysfunction of a maternally-expressed E3 ubiquitin ligase (UBE3A, also known as E6 associated protein, E6-AP) in neurons. Currently, the mechanism on how loss-of-function of the enzyme influences the nervous system development remains unknown.

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    Date Created
    • 2017
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  • Text
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    • Partial requirement for: Ph.D., Arizona State University, 2017
      Note type
      thesis
    • Includes bibliographical references (pages 96-121)
      Note type
      bibliography
    • Field of study: Neuroscience

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    by Guohui Li

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