PROJECT 1:
Host:
Institute for Medical Genetics and Applied Genomics
Fellow:
Anna Sowa
Maria Ines Martins
Our work focuses on understanding the mechanisms of pathogenesis behind the most common spinocerebellar ataxia world wide, Spinocerebellar Ataxia type 3 (SCA3). We are working on understanding the role of mutant protein (Ataxin3) aggregation on disease progression. We are studying how Ataxin3 is able to move into/out of the nucleus and how this transport of Ataxin3 affects aggregation and toxicity. The goal is to uncover the pathways by which Ataxin3 is shuttled into the nucleus and to use these pathways in therapeutic intervention.