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

Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9.

JCI insight - 10 Oct 2022

Shin Jun Wan, Hong Eun Pyo, Park Seri S, Choi Doo Eun, Seong Ihn Sik, Whittaker Madelynn N, Kleinstiver Benjamin P, Chen Richard Z, Lee Jong-Min

Abstract excerpt

Dominant gain-of-function mechanisms in Huntington's disease (HD) suggest that selective silencing of mutant HTT produces robust therapeutic benefits. Here, capitalizing on exonic protospacer adjacent motif-altering (PAM-altering) SNP (PAS), we developed an allele-specific CRISPR/Cas9 strategy to permanently inactivate mutant HTT through nonsense-mediated decay (NMD). Comprehensive sequence/haplotype analysis...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to CRISPR-Cas Systems

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gain of Function Mutation

Share to Huntingtin Protein

Share to Huntington Disease

Share to Mutant Proteins

Share to RNA, Messenger

Source

Open in PubMed Open full text

Identifiers

PMID: 36040815
DOI: 10.1172/jci.insight.141042
PMCID: PMC9675467

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Allele-specific silencing of the gain-of-function mutation in Huntington's disease using CRISPR/Cas9.PMID 36040815Read ↗

Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9.Semantic proximity Read ↗

CRISPR/Cas9 Editing of the Mutant Huntingtin Allele In Vitro and In Vivo.Semantic proximity Read ↗

Huntington disease: Selective deactivation of Huntington disease mutant allele by CRISPR-Cas9 gene editing.Semantic proximity Read ↗

Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing.Semantic proximity Read ↗

Haplotyping by CRISPR-mediated DNA circularization (CRISPR-hapC) broadens allele-specific gene editing.Semantic proximity Read ↗

Gene targeting techniques for Huntington's disease.Semantic proximity Read ↗

Allele-Specific Knockdown of Mutant Huntingtin Protein via Editing at Coding Region Single Nucleotide Polymorphism Heterozygosities.Semantic proximity Read ↗

Self-inactivating AAV-CRISPR at different ages enables sustained amelioration of Huntington’s disease deficits in BAC226Q miceSemantic proximity Read ↗

Treatment of Huntington’s disease with a pan-HTT-targeting CRISPR nucleaseSemantic proximity Read ↗

RNA-Targeting CRISPR/Cas13d System Eliminates Disease-Related Phenotypes in Pre-clinical Models of Huntington’s DiseaseSemantic proximity Read ↗

Allele-specific genome targeting in the development of precision medicine.Semantic proximity Read ↗

Reprogramming Cas9 PAM Recognition for Allele-Specific EditingSemantic proximity Read ↗

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