Author
University of FloridaORCID 0000-0003-3531-5013Unclaimed ORCID profile · follow to get notified of new preprints
3 papers
Recent·Most cited
Lisa E. L. Romano, Setsuki Tsukagoshi, Emily E Davey…·Laura P.W. Ranum
Metformin reduces RAN proteins, improves splicing, and enhances behavioral and neuropathological outcomes in SCA8 BAC mice.
Laura Perna, Matteo Castelli, Elena Frasnetti…·J. Paul Chapple
The paper uses AlphaFold to predict the structure of sacsin's Hsp90-like domains and identifies key residues for ATPase activity, suggesting sacsin functions as an ATP-driven molecular chaperone.
Barbara A Perez, Hannah K Shorrock, Mónica Báñez-Coronel…·Laura P.W. Ranum
This study shows that CCG*CGG interruptions in SCA8 repeat expansions increase RAN protein levels and toxicity, contributing to higher disease penetrance.