Author

Antonia Ratti

2 papers indexed here

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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. · Stem Cell Research · 0 citations

Open access Jul 2026

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

Mitochondrial topoisomerase 1 (TOP1MT) regulates mitochondrial DNA (mtDNA) topology during transcription and replication. Perturbed mtDNA maintenance and RNA metabolism have been implicated in neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS). Here we show that the common TOP1MT variant rs22939...

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