Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene.

Cell - 22 Feb 2018

Liu X Shawn, Wu Hao, Krzisch Marine, Wu Xuebing, Graef John, Muffat Julien, Hnisz Denes, Li Charles H, Yuan Bingbing, Xu Chuanyun, Li Yun, Vershkov Dan, Cacace Angela, Young Richard A, Jaenisch Rudolf

Abstract excerpt

Fragile X syndrome (FXS), the most common genetic form of intellectual disability in males, is caused by silencing of the FMR1 gene associated with hypermethylation of the CGG expansion mutation in the 5' UTR of FMR1 in FXS patients. Here, we applied recently developed DNA methylation editing tools to reverse this hypermethylation event. Targeted demethylation of the CGG expansion by dCas9-Tet1/single guide RNA...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to CRISPR-Associated Protein 9
Share to Fragile X Mental Retardation Protein

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Syndrome

Share to Gene Editing

Share to Heterochromatin

Share to Induced Pluripotent Stem Cells

Share to RNA, Guide, CRISPR-Cas Systems

Share to Trinucleotide Repeat Expansion

Source

Open in PubMed Open full text

Identifiers

PMID: 29456084
DOI: 10.1016/j.cell.2018.01.012
PMCID: PMC6375087

Genes

FMR1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Rescue of Fragile X Syndrome Neurons by DNA Methylation Editing of the FMR1 Gene.PMID 29456084Read ↗

Epigenetic characterization of the FMR1 gene and aberrant neurodevelopment in human induced pluripotent stem cell models of fragile X syndrome.Semantic proximity Read ↗

Targeted Reactivation of <i>FMR1</i> Transcription in Fragile X Syndrome Embryonic Stem CellsSemantic proximity Read ↗

Partial FMRP expression is sufficient to normalize neuronal hyperactivity in Fragile X neuronsSemantic proximity Read ↗

CGG-repeat dynamics and FMR1 gene silencing in fragile X syndrome stem cells and stem cell-derived neurons.Semantic proximity Read ↗

Fragile X syndrome patient-derived neurons developing in the mouse brain show <i>FMR1</i> -dependent phenotypesSemantic proximity Read ↗

The FMR1 promoter is selectively hydroxymethylated in primary neurons of fragile X syndrome patients.Semantic proximity Read ↗

An iPSC model of fragile X syndrome reflects clinical phenotypes and reveals m <sup>6</sup> A- mediated epi-transcriptomic dysregulation underlying synaptic dysfunctionSemantic proximity Read ↗

DNA Methylation, Mechanisms of FMR1 Inactivation and Therapeutic Perspectives for Fragile X Syndrome.Semantic proximity Read ↗

CGG Repeat-Induced FMR1 Silencing Depends on the Expansion Size in Human iPSCs and Neurons Carrying Unmethylated Full Mutations.Semantic proximity Read ↗

Spatially coordinated heterochromatinization of long synaptic genes in fragile X syndrome.Semantic proximity Read ↗

Integrative analysis identifies key molecular signatures underlying neurodevelopmental deficits in fragile X syndromeSemantic proximity Read ↗

Human-mouse chimeric Fragile X syndrome model reveals FMR1-dependent neuronal phenotypesSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.