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Marta Giannini

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Open access Jul 2026

RNA dysregulation and compromised neuronal identity drive pathogenesis in Senataxin-associated ALS

Using isogenic human induced pluripotent stem cell-derived MNs, it is shown that ALS4-associated SETX mutations induce progressive axonal defects and widespread transcriptomic alterations, including reduced expression or altered splicing of transcripts critical for neuronal function.

Marta Giannini, Thierry Gostan, Amal Zine El Aabidine et al. · 0 citations