RESEARCH FOCUS

Angelman syndrome

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.

Pitt-Hopkins syndrome

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.

Dup15q syndrome

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.

Investigating molecular and circuit mechanisms for neurodevelopmental disorders

We aim to discover novel therapeutic opportunities

SELECTED RECENT PUBLICATIONS

Click here to see all Philpot lab publications.

Ube3a reinstatement mitigates epileptogenesis in Angelman syndrome model mice. Gu, B., . . ., Philpot, B. D. (2019). J Clin Invest

Characterization and structure-activity relationships of indenoisoquinoline-derived topoisomerase I inhibitors in unsilencing the dormant Ube3a gene associated with Angelman syndrome. Lee, H. M., Clark, E. P., Kuijer, M. B., . . ., Philpot, B. D. (2018). Mol Autism

den Abnormal coherence and sleep composition in children with Angelman syndrome: a retrospective EEG study. Bakker, H., Sidorov, M. S., . . ., Philpot, B. D. (2018). Mol Autism

Enhanced operant extinction and prefrontal excitability in a mouse model of Angelman syndrome. Sidorov, M. S., Judson, M. C., Kim, H., Rougie, M., . . . Philpot, B. D. (2018). J Neurosci

Common Pathophysiology in Multiple Mouse Models of Pitt–Hopkins Syndrome. Thaxton, C. L., Kloth A. D., Clark E. P., . . ., Philpot B. D. (2018). J Neurosci

RESEARCH MEMBERS

Dr. Ben Philpot
Principal Investigator

Dr. Matt Judson
Research Associate

Postdoctoral training at UNC . Earned Ph.D. at Vanderbilt University.

Dr. Mike Sidorov
Postdoctoral Fellow

Ph.D. in Neuroscience at M.I.T.

Dr. Bin Gu
Postdoctoral Fellow

Ph.D. in Neuroscience at Duke University.

Dr. Kiran Bettadapur
Research Specialist

Ph.D. in Organic Chemistry at the Indian Institute of Science, Bangalore, India.

Sally Hyojin Kim
Ph.D. Graduate Student

B.S. in Biology at UNC at Chapel Hill.

Mason Riley
Ph.D. Graduate Student

B.S. in Biology at Middle Tennessee State University.

Marie Rougie
Research Technician

M.S. in Pharmacology at the University of Strasbourg in France.

Caleb Hall
Research Technician

The laboratory is located on the 7th floor of the Mary Ellen Jones building in Chapel Hill.