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Zeljka Miletic Lanaghan

Tennessee State University

Jeffrey Neul lab

Rett Syndrome (RTT) is a severe neurodevelopmental disorder that primarily affects girls and is caused by mutations in Methyl-CpG-Binding Protein 2 (MECP2). Nonsense mutations, which result in a truncated polypeptide or catalyze the nonsense-mediated mRNA decay (NMD) pathway, are present in 35% of individuals with RTT. Pharmacologically induced nonsense suppression therapy is one strategy for treating genetic diseases caused by a nonsense mutation. The project aims to identify the features that control pharmacological nonsense suppression efficiency in common RTT-causing mutations and investigate if the full-length MeCP2 produced following nonsense suppression will improve the disease phenotype.