Article

In vitro cellular phenotypes of cortical neurons from R255X MECP2 knock-in mice are improved by either expression of wildtype MeCP2 or ‘read-through’ with G418

2025-02-21

Abstract excerpt

<h4>ABSTRACT</h4> Approximately 60% of individuals with Rett syndrome (RTT) carry a nonsense variant in the MECP2 gene; thus, there is an unmet need to identify novel nonsense suppression compound(s) that can restore full length MeCP2 protein levels and function. Here, we characterized neuronal phenotypes in cultured cortical neurons from newborn knock-in mice harboring the MECP2 R255X variant. After 2 weeks i...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: ba97671f-0306-5a78-99e1-7b3d54755e5d
DOI: 10.1101/2025.02.17.638700

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

In vitro cellular phenotypes of cortical neurons from R255X MECP2 knock-in mice are improved by either expression of wildtype MeCP2 or ‘read-through’ with G418DOI 10.1101/2025.02.17.638700Read

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

MECP2 -mutant marmosets exhibit primate-specific phenotypes of Rett syndromeSemantic proximity Read

Reduced neuronal size and mTOR pathway activity in the Mecp2 A140V Rett syndrome mouse modelSemantic proximity Read

Molecular and Functional Dysregulations in Novel, Rett Syndrome Patient-Derived Cerebral OrganoidsSemantic proximity Read

A small-molecule TrkB ligand improves dendritic spine phenotypes and atypical behaviors in female Rett syndrome miceSemantic proximity Read

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

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

Pharmacological reversal of synaptic and network pathology in human MECP2-KO neurons and cortical organoids.Semantic proximity Read

Transcriptome Analysis of Brain Tissues in a MeCP2-Null Rat Model of Rett SyndromeSemantic proximity Read

KW-2449 and VPA exert therapeutic effects on human neurons and cerebral organoids derived from MECP2-null hESCsSemantic proximity Read

In vitro modeling of dendritic atrophy in Rett syndrome: determinants for phenotypic drug screening in neurodevelopmental disorders.Semantic proximity Read

Wide spectrum of neuronal and network phenotypes in human stem cell-derived excitatory neurons with Rett syndrome-associated MECP2 mutationsSemantic proximity Read

<i>In vitro</i> cellular phenotypes of cortical neurons from R255X <i>MECP2</i> knock-in mice are improved by either expression of wildtype MeCP2 or ‘read-through’ with G418

Abstract excerpt

Topics

Identifiers and source

Related research