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Article

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

HGG advances - 12 Jan 2023

Fang Li, Monteys Alex Mas, Dürr Alexandra, Keiser Megan, Cheng Congsheng, Harapanahalli Akhil, Gonzalez-Alegre Pedro, Davidson Beverly L, Wang Kai

Abstract excerpt

Huntington's disease (HD) is an autosomal dominant neurodegenerative disease caused by CAG trinucleotide repeat expansions in exon-1 of huntingtin (HTT). Currently, there is no cure for HD, and the clinical care of individuals with HD is focused on symptom management. Previously, we showed allele-specific deletion of the expanded HTT allele (mHTT) using CRISPR-Cas9 by targeting nearby (<10 kb) SNPs that created...

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Identifiers

PMID: 36262216
DOI: 10.1016/j.xhgg.2022.100146
PMCID: PMC9574884

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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