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Will Aisenberg

Class 2014
Education BS, University of Maryland, College Park
Email waisenb1@jhmi.edu
Mentor

Dr. Charlotte Sumner

Research Interests

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.