Article

Familial ALS/FTD-associated RNA-Binding deficient TDP-43 mutants cause neuronal and synaptic transcript dysregulation <i>in vitro</i>

2025-03-29

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 disease...

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Literature Corpus work: be8db63c-4661-5010-9f1e-46e60dff4130
DOI: 10.1101/2025.03.26.645507

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