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C9orf72 ALS ‐causing mutations lead to mislocalization and aggregation of nucleoporin Nup107 into stress granules

1 Sept 2025

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal disorder caused by motor neuron degeneration. Hexanucleotide repeat expansions in the C9orf72 gene, the most common genetic cause of ALS (C9-ALS), drive toxicity through different mechanisms. These pathological changes include alterations in stress granules (SGs), ribonucleoprotein complexes formed under stress conditions. Here, we show that G3BP1, a core component...

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PMID: 40891053
DOI: 10.1002/1873-3468.70156

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