Article

<i>C9orf72</i> ALS-causing mutations lead to nucleoporin Nup107 aggregation and subsequent pathological changes

2025-04-17

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 o...

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Literature Corpus work: 4cb14b5f-aec5-5e84-9b1f-842956f7e986
DOI: 10.1101/2025.04.16.649118

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