Leeanne Vazquez-Ramirez

β-catenin (encoded by the CTNNB1 gene) is a protein that plays key roles in cadherin-based synaptic adhesion complexes and canonical Wnt signaling transduction. These pathways are important for the proper development and function of the brain and neuromuscular junction. It was recently discovered that CTNNB1 haploinsufficiency caused by partial or complete deletion mutations results in CTNNB1 syndrome, a developmental disorder characterized by intellectual disabilities and reduced motor capabilities. My research focuses on identifying molecular changes in mouse and human cell line models of the syndrome and testing potential therapeutic strategies.