Article
Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations.
Translational psychiatry - 18 Oct 2022
Mok Rebecca S F, Zhang Wenbo, Sheikh Taimoor I, Pradeepan Kartik, Fernandes Isabella R, DeJong Leah C, Benigno Gabriel, Hildebrandt Matthew R, Mufteev Marat, Rodrigues Deivid C, Wei Wei, Piekna Alina, Liu Jiajie, Muotri Alysson R, Vincent John B, Muller Lyle, Martinez-Trujillo Julio, Salter Michael W, Ellis James
Abstract excerpt
Rett syndrome (RTT) is a severe neurodevelopmental disorder primarily caused by heterozygous loss-of-function mutations in the X-linked gene MECP2 that is a global transcriptional regulator. Mutations in the methyl-CpG binding domain (MBD) of MECP2 disrupt its interaction with methylated DNA. Here, we investigate the effect of a novel MECP2 L124W missense mutation in the MBD of an atypical RTT patient with...
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