Lafora progressive myoclonus epilepsy is caused by mutations in the TRIM-like E3-ubiquitin ligase malin. This study will identify the role of malin in pathophysiology. Interactomics and proteomic techniques will be used to identify substrates of malin. We will also pay attention to the deubiquitinases that accompany malin in its action.
Autophagic defects in Lafora disease due to mutations in the TRIM-like E3 ligase Malin