Author

Dóra Varga

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Open access Jul 2026

TOP1MT rs2293925 is an enhancer-active regulatory SNP that shapes mitochondrial R-loop dynamics.

Data support a dual-effect model in which rs2293925 increases TOP1MT expression and is associated with altered mitochondrial R-loop dynamics, linking common genetic variation to mitochondrial nucleic acid stress in disease-relevant contexts.

Dóra Varga, Zsolt Ráduly, Beáta Boros-Oláh et al. · The FEBS Journal · 0 citations