Article

ALS/FTD-associated TDP-43 mutations promote fragility of genes governing excitatory neurotransmission via topoisomerase IIβ impairment

2025-12-10

Abstract excerpt

Abnormal TAR DNA/RNA-binding protein 43 (TDP-43) is a hallmark of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), characterized by cytoplasmic mis-localization, aggregation, and pathogenic mutations. Altered excitatory neuronal transmission is an early functional defect in these diseases; however, the underlying mechanisms remain unclear. Neuronal activity can induce DNA double-strand breaks...

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Literature Corpus work: fb2b1e0a-05b8-54cd-a6a1-f04fb457609a
DOI: 10.64898/2025.12.08.693088

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