Article
Mutations in the transcriptional regulator MeCP2 severely impact key cellular and molecular signatures of human astrocytes during maturation.
Cell reports - 31 Jan 2023
Sun Jialin, Osenberg Sivan, Irwin Austin, Ma Li-Hua, Lee Nigel, Xiang Yangfei, Li Feng, Wan Ying-Wooi, Park In-Hyun, Maletic-Savatic Mirjana, Ballas Nurit
Abstract excerpt
Mutations in the MECP2 gene underlie a spectrum of neurodevelopmental disorders, most commonly Rett syndrome (RTT). We ask whether MECP2 mutations interfere with human astrocyte developmental maturation, thereby affecting their ability to support neurons. Using human-based models, we show that RTT-causing MECP2 mutations greatly impact the key role of astrocytes in regulating overall brain bioenergetics and that...
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