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Article

Pharmacological read-through of R294X Mecp2 in a novel mouse model of Rett syndrome.

Human molecular genetics - 29 Aug 2020

Merritt Jonathan K, Collins Bridget E, Erickson Kirsty R, Dong Hongwei, Neul Jeffrey L

Abstract excerpt

Rett syndrome (RTT) is a neurodevelopmental disorder primarily caused by mutations in Methyl-CpG-binding Protein 2 (MECP2). More than 35% of affected individuals have nonsense mutations in MECP2. For these individuals, nonsense suppression has been suggested as a possible therapeutic approach. To assess the viability of this strategy, we created and characterized a mouse model with the common p.R294X mutation...

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Identifiers

PMID: 32469049
DOI: 10.1093/hmg/ddaa102
PMCID: PMC7471501

Genes

MECP2

Provenance

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.

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