|Education||BS, University of Maryland, College Park
Charcot-Marie-Tooth disease type 2C (CMT2C) is an inherited perophreal neuropathy caused by dominant missense mutations in the TRPV4 gene. TRPV4 is a calcium-permeable ion channel, which is expressed at the cell surface. Mutations that cause CMT2C localize to the cytoplasmic ankyrin repeat domain and result in increased basal and stimulated channel activity; however the mechanisms that underlie this apparent gain-of-function particularly in neurons remain unknown. Mechanisms of TRPV4 surface regulation are not well understood, especially in neurons. I am studying the effect of post translational modifications, especially ubiquitination, on TRPV4 localization and function in the nervous system.