Citation | David Rubinsztein has made important contributions to the understanding of the pathogenesis of Huntington’s disease (HD) and oculopharyngeal muscular dystrophy (OPMD). He has identified drugs that may have benefit in both diseases, one which is currently being tested in a phase I clinical trial in HD, and another which is shortly to be trialled in OPMD patients. He has been a leader in illuminating the relevance of autophagy defects as a disease mechanism and autophagy upregulation as a possible therapeutic approach in various neurodegenerative diseases, and has made key contributions to the basic cell biology of this important catabolic process. |