A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.

doi:10.1186/s11689-020-09332-3

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Article

A small-molecule screen reveals novel modulators of MeCP2 and X-chromosome inactivation maintenance.

Journal of neurodevelopmental disorders - 10 Nov 2020

Lee Hyeong-Min, Kuijer M Bram, Ruiz Blanes Nerea, Clark Ellen P, Aita Megumi, Galiano Arjona Lorena, Kokot Agnieszka, Sciaky Noah, Simon Jeremy M, Bhatnagar Sanchita, Philpot Benjamin D, Cerase Andrea

Abstract excerpt

BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder caused by mutations in the X-linked methyl-CpG binding protein 2 (MeCP2) gene. While MeCP2 mutations are lethal in most males, females survive birth but show severe neurological defects. Because X-chromosome inactivation (XCI) is a random process, approximately 50% of the cells silence the wild-type (WT) copy of the MeCP2 gene. Thus, reactivating...

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Identifiers

PMID: 33172406
DOI: 10.1186/s11689-020-09332-3
PMCID: PMC7657357

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.