Using techniques developed in the Brown lab to study the transport and assembly of neurofilament polymers I am researching the misassembly and transport failure seen in the axons of neurons in Charcot‐Mareit‐Tooth type 2E patients. These individuals have mutations throughout the neurofilament light chain gene which eventually causes axon degeneration and cell death through unknown mechanisms. CMT2E is an autosomal dominantly inherited peripheral neuropathy with varied age of onset and a slow progression. The severity of the disease can vary widely, however, it generally manifests as limb weakness and muscle wasting as well as some loss of peripheral sensation. Using culture techniques I aim to determine the differences between neurofilament polymers in healthy and in a number of CMT2E mutated cells.
2014 - University Fellowship, OSU Graduate School
Stone, E., Uchida, A., and Brown, A. Charcot-Marie-Tooth Disease type 2E mutant neurofilament subunit proteins assemble into neurofilaments. Poster presentation delivered at The Ohio State University’s Interdisciplinary Graduate Programs Research Symposium, Columbus, OH, USA, 2017.
Stone, E., Uchida, A., and Brown, A. Charcot-Marie-Tooth Disease type 2E mutant neurofilament subunit proteins assemble into neurofilaments. Poster presentation delivered at the IUBUMB Focused Meeting on Emerging Concepts of the Neuronal Cytoskeleton, Puerto Varas, Chile, 2017.