Jeffrey L. Neul

2 months ago | biorxiv.org | Xin Xu |Jonathan Merritt |Steven Gray |Jeffrey L. Neul

AbstractApproximately 60% of individuals with Rett syndrome (RTT) carry a nonsense variant in the MECP2 gene; thus, there is an unmet need to identify novel nonsense suppression compound(s) that can restore full length MeCP2 protein levels and function. Here, we characterized neuronal phenotypes in cultured cortical neurons from newborn knock-in mice harboring the MECP2 R255X variant.