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When repetita no-longer iuvant: somatic instability of the CAG triplet in Huntington’s disease

14 Dec 2024

Abstract excerpt

Trinucleotide repeats in DNA exhibit a dual nature due to their inherent instability. While their rapid expansion can diversify gene expression during evolution, exceeding a certain threshold can lead to diseases such as Huntington's disease (HD), a neurodegenerative condition, triggered by >36 C-A-G repeats in exon 1 of the Huntingtin gene. Notably, the discovery of somatic instability (SI) of the tract allows...

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PMID: 39673793
DOI: 10.1093/nar/gkae1204

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