Article

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutations

2020-07-12

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<h4>ABSTRACT</h4> 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 MECP2 L124W missense mutation in the MBD of an atypical RTT patient...

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Literature Corpus work: 580a1d42-fcbc-5932-bbb5-ccd8d9992f13
DOI: 10.1101/2020.07.12.189621

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Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated <i>MECP2</i> mutations

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