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Article

Single-nucleus profiling reveals a core disease signature and cell type-specific vulnerabilities in early Rett syndrome.

Science advances - 12 Jun 2026

Li Yan, Anderson Ashley G, Qi Guantong, Wu Sih-Rong, Revelli Jean-Pierre, Chen Hu, Liu Zhandong, Zoghbi Huda Y

Abstract excerpt

Rett syndrome (RTT) is an X-linked neurological disorder caused by MECP2 mutations, creating distinct cellular environments in females (mosaic) versus males (nonmosaic). Despite female patients representing most cases, how mosaicism contributes molecularly to RTT pathogenesis, particularly in presymptomatic stages, remains poorly understood. To address this question, we profiled hippocampal transcriptomes of...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42268975
DOI: 10.1126/sciadv.aeb4265
PMCID: PMC13251834

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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