Erica Rosenbaum

E-mail: eerosenbaum@wisc.edu

Research Project:

My objective as a graduate student within the Neuroscience Training Program at the University of Wisconsin is to utilize Drosophila as a model system for studying the genetic defects and molecular mechanisms that lead to retinal degeneration in humans. Retinitis pigmentosa (RP) and age-related macular degeneration (AMD) are two hereditary human diseases that cause retinal degeneration and eventual blindness. There is currently no cure for AMD or RP. Since entering the Neuroscience Training Program, I have begun the characterization of a new genetic locus, gos28. gos28 encodes a Golgi SNARE protein involved in vesicle fusion events during protein transport through the secretory pathway. I have shown that mutations in gos28 lead to retinal degeneration and severe defects in the expression of the major eye pigment, rhodopsin. I am currently using a multi-faceted approach, involving electron microscopy, immunocytochemistry, western blotting, and electrophysiology, to characterize these defects and elucidate a mechanism by which they are occurring. In addition to studying the mechanisms underlying the defects in gos28 mutants, I intend to investigate conditions that slow the onset and progression or reduce the severity of these conditions. Defects in protein folding, quality control, and protein transport through the secretory pathway are known causes of many degenerative diseases, which broadens the applications of my findings. I anticipate that the identification of calnexin, gos28, and other genetic loci in Drosophila, will provide insights for disease genes involved in retinal degeneration in humans and that our findings will have a high impact on future treatments of retinal degeneration diseases, such as RP and AMD.

Abstracts and Publications:

• Rosenbaum, E.E., R.C. Hardie, and N.J. Colley. 2006. Calnexin is essential for rhodopsin maturation, Ca2+ regulation and photoreceptor cell survival. Neuron 49: 229-241.
• Lalonde, M.M., H. Janssens, E. Rosenbaum, S. Choi, J.P. Gergen, N.J. Colley, W. Stark, and M.A. Frohman. 2005. Regulation of phototransduction responsiveness and retinal degeneration by phospholipase D-generated signaling lipid. J. Cell Biol. 169: 471-479. [PDF]