GREENTURTLELAB
Updated 7 days ago
116 Manning Drive, Mary Ellen Jones Building Room#7004, CB#7250, Chapel Hill, NC 27599
UNC Neuroscience Center, an innovative, collaborative, and translational interdepartmental research center...
A severe genetic disorder caused by mutations or deletions of the maternally inherited UBE3A gene. UBE3A encodes an E3 ubiquitin ligase that is expressed biallelically in most tissues but is maternally expressed in almost all neurons. The Philpot group takes a multidisciplinary approach to understand molecular and physiological mechanisms underlying AS and to identify potential therapeutic targets.