Efficacy of Increased Ube3a Protein Levels in the Brain in Rescuing the Phenotype of an Angelman Syndrome Mouse
Angelman syndrome (AS), a genetic disorder occurring in approximately one in every 15,000 births, is characterized by severe mental retardation, seizures, difficulty speaking and ataxia. The gene responsible for AS was discovered to be UBE3A and encodes an E6-AP ubiquitin ligase. A unique feature of...
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| Format: | Others |
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Scholar Commons
2012
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| Online Access: | http://scholarcommons.usf.edu/etd/4305 http://scholarcommons.usf.edu/cgi/viewcontent.cgi?article=5501&context=etd |