Funded Projects
SFARI Funded Publications
Identification of disease-linked hyperactivating mutations in UBE3A through large-scale functional variant analysis.
Weston K.P., Gao X., Zhao J., Kim K.-S., Maloney S.E., Gotoff J., Parikh S., Leu Y.-C., Wu K.-P., Shinawi M., Steimel J.P., Harrison J.S., Yi J.
The autism-linked UBE3AT485A mutant E3 ubiquitin ligase activates the Wnt/beta-catenin pathway by inhibiting the proteasome.
Yi J., Paranjape S.R., Walker M.P., Choudhury R., Wolter J.M., Fragola G., Emanuele M.J., Major M.B., Zylka M.
An autism-linked mutation disables phosphorylation control of UBE3A.
Yi J., Berrios J., Newbern J.M., Snider W.D., Philpot B., Hahn K.M., Zylka M.