Article

Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing

2024-06-09

Abstract excerpt

Huntington’s disease (HD), one of >50 inherited repeat expansion disorders (Depienne and Mandel, 2021), is a dominantly-inherited neurodegenerative disease caused by a CAG expansion in HTT (The Huntington’s Disease Collaborative Research Group, 1993). Inherited CAG repeat length is the primary determinant of age of onset, with human genetic studies underscoring that the property driving disease is the CAG length-...

Topics

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

Identifiers and source

Literature Corpus work: 90756858-2402-5a9a-b507-135f359128b0
DOI: 10.1101/2024.06.08.597823

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editingDOI 10.1101/2024.06.08.597823Read

In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s diseaseSemantic proximity Read

Somatic CRISPR editing of <i>Msh3</i> mitigates Huntington’s disease pathology in miceSemantic proximity Read

Therapeutic validation of MMR-associated genetic modifiers in a human <i>ex vivo</i> model of Huntington’s diseaseSemantic proximity Read

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects.Semantic proximity Read

Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington’s disease pathogenesis in miceSemantic proximity Read

Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD miceSemantic proximity Read

Genetic modifiers of somatic expansion and clinical phenotypes in Huntington’s disease reveal shared and tissue-specific effectsSemantic proximity Read

Computational modeling and preclinical validation support targeting somatic instability for Huntington’s disease treatmentSemantic proximity Read

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

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

Beyond CAG Repeats: The Multifaceted Role of Genetics in Huntington DiseaseSemantic proximity Read

Genetic modifiers of Huntington’s disease differentially influence motor and cognitive domainsSemantic proximity Read