AGENTS FOR TREATING GENETIC DISEASES RESULTING FROM NONSENSE MUTATIONS, AND METHODS FOR IDENTIFYING THE SAME

摘要

Disclosed is treatment of genetic neurodegenerative or neurodevelopmental diseases that are caused by or associated with nonsense mutations or premature termination codons using macrolides. Further disclosed are methods for identifying agents that induce read-through of nonsense mutations and premature termination codons and uses thereof.