Angelman syndrome scientific symposium on the structure and function of UBE3A/E6AP.
In 1997, the genetic basis for the Angelman syndrome was identified as disruption of the UBE3A/E6-AP gene, an important protein component is the ubiquitin degradation pathway. During the last decade, increasing attention has been focused on this gene and how it functions within neurons, especially how it regulates protein homeostasis associated with synaptic function. The symposium enabled neuroscientists and other researchers to present and discuss studies targeted toward better understanding of UBE3A and its role in the Angelman syndrome.
Williams
Charles
C
Division of Genetics and Metabolism, Department of Pediatrics, University of Florida College of Medicine, Gainesville, Florida, USA. willicx@peds.ufl.edu
D017204:Angelman Syndrome / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D000818:Animals; D030801:Animals, Genetically Modified; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D016923:Cell Death; D015195:Drug Design; D006801:Humans; D035683:MicroRNAs; D009473:Neuronal Plasticity; D046988:Proteasome Endopeptidase Complex / Q000502:physiology; D012333:RNA, Messenger / Q000378:metabolism; D015398:Signal Transduction; D013312:Stress, Physiological / Q000502:physiology; D013569:Synapses / Q000502:physiology; D025801:Ubiquitin / Q000378:metabolism; D044767:Ubiquitin-Protein Ligases / Q000235:genetics* / Q000378:metabolism*
D035683:MicroRNAs; D012333:RNA, Messenger; D025801:Ubiquitin; C471639:UBE3A protein, human; D044767:Ubiquitin-Protein Ligases; D046988:Proteasome Endopeptidase Complex