Article

Epigenetic mechanisms governing cell type specific somatic expansion and toxicity in Huntington’s disease

2025-05-26

Abstract excerpt

Huntington’s disease (HD) is characterized by neuronal dysfunction and degeneration that varies markedly by brain region and cell type. Using high-resolution epigenetic profiling of postmortem human cell types we identify a pathogenic cascade linking cell type specific enhancer activity to somatic CAG expansion, and toxicity to epigenetic dysregulation. Enhancers regulating mismatch-repair (MMR) gene expression ex...

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Identifiers and source

Literature Corpus work: 836cff98-c881-5601-85f1-825f5d377589
DOI: 10.1101/2025.05.21.653721

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