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.
A rare neurodevelopmental disorder caused by mutation or deletion of the transcription factor 4 gene. TCF4 encodes a basic helix-loop-helix transcription factor that regulates gene transcription through homodimerization or heterodimerization with other bHLH transcription factors. The Philpot lab has been taking a multidisciplinary approach to tackle four major questions to advance PTHS treatment strategies.
A clinically identifiable syndrome which results from duplications of chromosome 15q11.2-13.1. When the duplicated material comes from the maternal chromosome, developmental problems are often the result. In most cases of chromosome 15q11.2-13.1 duplication syndrome, the chromosome duplication occurred as a random event during the formation of reproductive cells or during early embroyonic development.
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The laboratory is located on the 7th floor of the Mary Ellen Jones building in Chapel Hill.