Back to search

Article

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

2023-12-07

Abstract excerpt

<h4>ABSTRACT</h4> The pathological huntingtin ( HTT ) trinucleotide repeat underlying Huntington’s disease (HD) continues to expand throughout life. Repeat length correlates both with earlier age at onset (AaO) and faster progression, making slowing its expansion an attractive therapeutic approach. Genome-wide association studies have identified candidate variants associated with altered AaO and progression, wit...

Topics

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

Identifiers and source

Literature Corpus work
80d8b54c-b9cd-5830-8ade-7f02bf68d9b1
DOI
10.1101/2023.12.05.570095
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Therapeutic validation of MMR-associated genetic modifiers in a human <i>ex vivo</i> model of Huntington’s diseaseDOI 10.1101/2023.12.05.570095
Mismatch repair dissection by in vivo RNAi reveals dose-dependent modulators of somatic instability and proteome remodeling in Huntington’s diseaseSemantic proximity
Somatic CRISPR editing of <i>Msh3</i> mitigates Huntington’s disease pathology in miceSemantic proximity
Di-valent siRNA Mediated Silencing of MSH3 Blocks Somatic Repeat Expansion in Mouse Models of Huntington’s DiseaseSemantic proximity
Identification of genetic modifiers of Huntington’s disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editingSemantic proximity
<i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s diseaseSemantic proximity
Distinct mismatch-repair complex genes set neuronal CAG-repeat expansion rate to drive selective pathogenesis in HD miceSemantic proximity
GAA•TTC repeat expansion in human cells is mediated by mismatch repair complex MutLγ and depends upon the endonuclease domain in MLH3 isoform oneSemantic proximity
In vivo CRISPR–Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington’s diseaseSemantic proximity
Msh3 and Pms1 Set Neuronal CAG-repeat Migration Rate to Drive Selective Striatal and Cortical Pathogenesis in HD MiceSemantic proximity
Blocking somatic repeat expansion and lowering huntingtin via RNA interference synergize to prevent Huntington’s disease pathogenesis in miceSemantic proximity
Increased FAN1 expression by mRNA-LNP attenuates CAG repeat expansion in Huntington patients’ iPSC-derived astrocytesSemantic proximity
Genetic modifiers of somatic expansion and clinical phenotypes in Huntington's disease highlight shared and tissue-specific effects.Semantic proximity
Select a neighboring publication to make it the new centre.