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Article

A hexamer tandem repeat RNA embedded within an SVA retrotransposon drives R-loop formation and neurodegeneration

19 Jun 2025

Abstract excerpt

Retrotransposon activation is emerging as a significant factor in neurodegenerative disease pathogenesis. SINE-VNTR-Alu (SVAs) are hominid-specific retrotransposons that create genetic variation through insertion polymorphisms and variable short tandem repeat (STR) lengths. We investigate how the SVA (CCCTCT) n STR contributes to the striatal neurodegenerative disorder X-linked dystonia parkinsonism (XDP), where...

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PMID: 40540399
DOI: 10.1016/j.celrep.2025.115812

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