Kimberly Kegel-Gleason studies the normal and altered function of huntingtin (htt), the protein mutated in Huntington Disease (HD). Her early work revealed that autophagy and the lysosomal system were activated with htt accumulation in an HD cell system. More recently, she has discovered a normal association of htt with specific phosphoinositol phosphates (PIPs). PIPs are lipids present in membranes that can act to target proteins to specific sites within cells. The finding that htt interacts with specific PIPs will help to understand htt function at a molecular level. Furthermore, since mutant htt binds differently to PIPs, insights into membrane associated pathology in HD can be learned. She is also using lipidomicsas another approach to inquire in an unbiased manner whether specific lipids are changed in HD. Kimberly also has expertise in drug discovery for HD. An important goal of her laboratory is to establish human induced pluripotent stem (iPS) cell models of HD for translational research.
Kimberly received her Ph.D. From Columbia University in Pathology and completed postdoctoral work at Massachusetts General Hospital in Cellular Biology and Neurodegeneration.