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Article

MECP2e1 isoform mutation affects the form and function of neurons derived from Rett syndrome patient iPS cells.

Neurobiology of disease - 1 Apr 2015

Djuric Ugljesa, Cheung Aaron Y L, Zhang Wenbo, Mok Rebecca S, Lai Wesley, Piekna Alina, Hendry Jason A, Ross P Joel, Pasceri Peter, Kim Dae-Sung, Salter Michael W, Ellis James

Abstract excerpt

MECP2 mutations cause the X-linked neurodevelopmental disorder Rett Syndrome (RTT) by consistently altering the protein encoded by the MECP2e1 alternative transcript. While mutations that simultaneously affect both MECP2e1 and MECP2e2 isoforms have been widely studied, the consequence of MECP2e1 deficiency on human neurons remains unknown. Here we report the first isoform-specific patient induced pluripotent stem...

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Identifiers

PMID: 25644311
DOI: 10.1016/j.nbd.2015.01.001
PMCID: PMC4380613

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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