Article

Targeting calpastatin pharmacologically restores synaptic proteolysis and preserves motor neurons survival and function in C9orf72 ALS

2025-12-11

Abstract excerpt

A hexanucleotide repeat expansion (GGGGCC) in the C9orf72 gene is the most prevalent genetic cause of ALS, with early neuromuscular junction (NMJ) dysfunction being a key pathological feature. Current therapies provide only limited symptomatic relief, underscoring the need for targeted, mechanism-based interventions. Using a C9orf72 ALS zebrafish model (C9-miR) and patient-derived induced pluripotent stem cell (iP...

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Literature Corpus work: e3987652-b9b5-5e3c-88ce-31eb7bd7f366
DOI: 10.64898/2025.12.08.692907

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