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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- Partial requirement for: Ph.D., Arizona State University, 2017Note typethesis
- Includes bibliographical references (pages 96-121)Note typebibliography
- Field of study: Neuroscience