Alyssa received her BS in Biology from Springfield College and her PhD in Neuroscience from the University of Arizona. During her PhD she studied the dysregulation of mRNA transport and translation in Drosophila models of TDP-43 proteinopathies in the lab of Dr. Daniela Zarnescu. She joined Dr. Rothstein’s lab as a postdoctoral research fellow in December of 2016. Her current research is focused on the molecular mechanisms and pathways that contribute to nuclear pore injury in ALS and related neurodegenerative diseases. Using induced pluripotent stem cell (iPSC) derived neurons (iPSNs) and postmortem human patient CNS tissues, she has recently defined an early and significant pathophysiological cascade that is initiated by nuclear accumulation of the ESCRT-III protein CHMP7 in C9orf72 ALS/FTD and sALS. Specifically, nuclear accumulation of CHMP7 leads to nuclear pore injury characterized by a reduction of specific nucleoporin proteins (Nups) from the human neuronal nuclear pore complex in C9orf72 ALS/FTD and sALS. The collective reduction of 8 Nups leads to downstream deficits in functional nucleocytoplasmic transport, TDP-43 function and localization, and ultimately neuronal survival in response to glutamate stress. Alyssa’s current and future research goals are aimed at 1. identifying and understanding the pathways and proteins that regulate CHMP7 nuclear localization in humans neurons, 2. elucidating the mechanisms that lead to aberrant nuclear recruitment and/or accumulation and “activation” of CHMP7 in ALS and related neurodegenerative disorders, and 3. determining the mechanisms by which individual Nups are removed and degraded from the human neuronal NPC in ALS and related neurodegenerative diseases.
Angie Rubin firstname.lastname@example.org
Johns Hopkins University School of Medicine
Brain Science Institute
The John G. Rangos Sr. Building
855 N. Wolfe Street, Suite 279
Baltimore, MD 21205