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Author

Serena Santangelo

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Open access Sep 2026

Establishment of two iPSC lines from ALS patients carrying mutations in SQSTM1 and TBK1 genes.

The generation and characterization of two induced pluripotent stem cell lines are described, one derived from an ALS patient carrying the heterozygous SQSTM1 c.1175C > T (p.Pro392Leu) mutation and another derived from a patient carrying the heterozygous TBK1 c.2402A > T (p.His801Leu) variant of unknown significance.

Serena Santangelo, Veronica Casarotto, Lorenzo Campelli et al. · 0 citations
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. · 0 citations

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