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Article

Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.

Human molecular genetics - 1 May 2015

Pitcher Meagan R, Herrera José A, Buffington Shelly A, Kochukov Mikhail Y, Merritt Jonathan K, Fisher Amanda R, Schanen N Carolyn, Costa-Mattioli Mauro, Neul Jeffrey L

Abstract excerpt

Rett syndrome (RTT) is a severe neurodevelopmental disorder that is usually caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). Four of the eight common disease causing mutations in MECP2 are nonsense mutations and are responsible for over 35% of all cases of RTT. A strategy to overcome...

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Source

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Identifiers

PMID: 25634563
DOI: 10.1093/hmg/ddv030
PMCID: PMC4383870

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25634563-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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