Phone: (205) 975-5573
E-mail: Wilson@nrc.uab.edu

Research/Clinical Interest Description: The identification of genes involved in neuro-degeneration is a powerful means to understand the mechanisms of neuronal cell loss. Our laboratory focuses on identifying these genes through a variety of approaches in mice that include transgenics, gene-knockouts and positional cloning. We have recently cloned the mouse neurological mutation ataxia. The ataxia mouse displays a severe tremor and hind limb paralysis by 5 weeks of age. We showed that ataxia gene encodes Usp14, a member of the ubiquitin/proteosome pathway. During our analysis of the ataxia mouse, we found that loss of Usp14 results in synaptic transmission defects in both the central and peripherial nervous system. Since the members of this pathway act on a variety of substrates, we believe that the identification of the substrate(s) for Usp14 will provide important insights into the pathogenesis of the ataxia tremor and paralysis. In addition to Usp14, we are also investigating the function of several other members of the ubiquitin/proteosome pathway that are involved in neuronal function.