Article

<i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s disease

2023-07-27

Abstract excerpt

Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder whose motor, cognitive, and behavioral manifestations are caused by an expanded, somatically unstable CAG repeat in the first exon of HTT that lengthens a polyglutamine tract in huntingtin. Genome-wide association studies (GWAS) have revealed DNA repair genes that influence the age-at-onset of HD and implicate somatic CAG repeat expans...

Topics

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

Identifiers and source

Literature Corpus work: f0a69716-c328-5c5f-a814-5ef84fb0e71e
DOI: 10.1101/2023.07.25.550489

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

<i>PMS1</i> as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington’s diseaseDOI 10.1101/2023.07.25.550489Read

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

An orally available, brain penetrant, small molecule lowers huntingtin levels by enhancing pseudoexon inclusionSemantic proximity Read

Di-valent siRNA Mediated Silencing of MSH3 Blocks Somatic Repeat Expansion in Mouse Models of Huntington’s DiseaseSemantic proximity Read

PRMT5 is required for full-length <i>HTT</i> expression by repressing multiple proximal intronic polyadenylation sitesSemantic proximity Read

Allele-selective inhibition of huntingtin expression by switching to an miRNA-like RNAi mechanism.Semantic proximity Read

Increased FAN1 expression by mRNA-LNP attenuates CAG repeat expansion in Huntington patients’ iPSC-derived astrocytesSemantic proximity Read

Chemical engineering of therapeutic siRNAs for allele-specific gene silencing <i>in vivo</i> in CNSSemantic proximity Read

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

Rare loss-of-function variants in <i>POLD1, PMS1</i> and <i>FAN1</i> modify age at onset of motor symptoms in Huntington’s diseaseSemantic proximity Read

Systemic delivery of a splice-switching oligonucleotide heteroduplex corrects splicing in central nervous system and muscle in spinal muscular atrophy miceSemantic proximity Read

Mismatch repair dissection by in vivo RNAi reveals dose-dependent modulators of somatic instability and proteome remodeling in Huntington’s diseaseSemantic proximity Read

Potent and selective antisense oligonucleotides targeting single-nucleotide polymorphisms in the Huntington disease gene / allele-specific silencing of mutant huntingtin.Semantic proximity Read