Agents for treating genetic diseases resulting from missense mutations and Methods for identifying

摘要

Relates to methods for identifying agents capable of Inducing translectura missense mutations that cause the formation of premature termination codons, useful in the treatment of neurodegenerative and Neurodevelopmental genetic diseases associated with a mutation if No Sense, such as Spinal Muscular Atrophy, ataxia telangiectasia, Rett syndromeUsher Syndrome, among others. In One embodiment, the agents capable of Inducing translectura missense mutations are macrolide antibiotics. It also relates to compositions comprising at least one macrolide antibiotic, preferably selected among erythromycin, Azithromycin and clarithromycin, or any combination of at least two of the Macrolides.These compositions are preferably administered intrathecally, intraneural, intraventricular and intracerebral, intracranial