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

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

16 Jan 2025

Abstract excerpt

in the huntingtin (HTT) gene leads to neurodegeneration after decades of biological latency. We developed a single-cell method for measuring this repeat's length alongside genome-wide RNA expression. We found that the HTT CAG repeat expands somatically from 40-45 to 100-500+ CAGs in SPNs. Somatic expansion from 40 to 150 CAGs had no apparent cell-autonomous effect, but SPNs with 150-500+ CAGs lost positive and...

Read the complete abstract on PubMed

Topics

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

Share to Genetic Neurodegenerative Diseases
Share to Mitochondrial Function and Pathology
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 39824182
DOI: 10.1016/j.cell.2024.11.038

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s diseasePMID 39824182Read ↗

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington diseaseSemantic proximity Read ↗

A shared DNA-repeat toxicity threshold, reached somatically at cell-type-specific rates, unites cortical and striatal neurodegeneration in Huntington’s diseaseSemantic proximity Read ↗

Challenges of the Polyglutamine Diseases: From Dysfunctional Neuronal Circuitries to Neuron-Specific CAG Repeat InstabilitySemantic proximity Read ↗

Multimodal spatial transcriptomics determines repeat expansion, huntingtin aggregation, and selective cortical neuron loss in Huntington’s DiseaseSemantic proximity Read ↗

Patterns of CAG repeat instability in the central nervous system and periphery in Huntington’s disease and in spinocerebellar ataxia type 1Semantic proximity Read ↗

Huntington disease update: new insights into the role of repeat instability in disease pathogenesisSemantic proximity Read ↗

Propensity for somatic expansion increases over the course of life in Huntington disease.Semantic proximity Read ↗

Huntington disease: a single-gene degenerative disorder of the striatumSemantic proximity Read ↗

DNA instability in postmitotic neuronsSemantic proximity Read ↗

The molecular genetics of Huntington's disease.Semantic proximity Read ↗

Somatic CAG repeat instability in intermediate alleles of the HTT gene and its potential association with a clinical phenotype.Semantic proximity Read ↗

New developments in Huntington’s disease and other triplet repeat diseases: DNA repair turns to the dark sideSemantic proximity Read ↗

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