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GSBS Alum makes breakthrough in Angelman Syndrome: Unsilencing imprinted genes

Date Posted: diciembre 28, 2011

2008 graduate, Hsien-Sung Huang, Ph.D., has discovered topoisomerase inhibitors that can unsilence Ube3a in several regions of the central nervous system such as hippocampus, striatum, cerebral cortex, cerebellum and spinal cord. Ube3a is paternally imprinted and maternally active. Loss of maternal Ube3a causes Angelman syndrome which is a severe neurodevelopmental disorder. No effective therapies exist for Angelman syndrome. Unsilenced UBE3A protein is catalytically active and the molecular mechanism of unsilencing Ube3a could be through the breakdown of Ube3a antisense.

Dr. Huang’s recent findings about unsilencing imprinted genes was published in Nature, Science, Scientist, Simons Foundation Autism Research Initiative website, Angelman Syndrome Foundation website, WRAL website and other media.

Dr. Huang is currently a Postdoctoral fellow in the Philpot lab in the Department of Cell and Molecular Physiology in the School of Medicine at University of North Carolina at Chapel Hill.

Citation: Huang HS, John A. Allen, Angela M. Mabb, Ian F. King, Jayalakshmi Miriyala, Bonnie Taylor-Blake, Noah Sciaky, J. Walter Dutton Jr., Hyeong-Min Lee, Xin Chen, Jian Jin, Arlene S. Bridges, Mark J. Zylka, Bryan L. Roth, & Benjamin D. Philpot(2011) Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature doi:10.1038