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Familial ALS/FTD-associated RNA-binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation in vitro

18 Jun 2025

Abstract excerpt

TDP-43 is an RNA-binding protein constituting the pathological inclusions observed in ~ 95% of ALS and ~ 50% of FTD patients. In ALS and FTD, TDP-43 mislocalises to the cytoplasm and forms insoluble, hyperphosphorylated and ubiquitinated aggregates that enhance cytotoxicity and contribute to neurodegeneration. Despite its primary role as an RNA/DNA-binding protein, how RNA-binding deficiencies contribute to...

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PMID: 40583561
DOI: 10.1093/hmg/ddaf111

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