Article

A mutation-led search for novel functional domains in MeCP2

2018-03-26

Abstract excerpt

Most missense mutations causing Rett syndrome affect domains of MeCP2 that have been shown to either bind methylated DNA or interact with a transcriptional co-repressor complex. Several mutations, however, including the C-terminal truncations that account for ~10% of cases, fall outside these characterised domains. We studied the molecular consequences of four of these “non-canonical” mutations in cultured neurons...

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Literature Corpus work: 3169e0da-936a-53d4-b299-6d3bcd3a83db
DOI: 10.1101/288878

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