Article

Cryptic splicing in synaptic and membrane excitability genes links TDP-43 loss to neuronal dysfunction

2025-09-02

Abstract excerpt

TDP-43 pathology is a defining pathological hallmark of multiple neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). A major feature of TDP-43 pathology is its nuclear depletion, leading to the aberrant inclusion of cryptic exons during RNA splicing. STMN2 and UNC13A have emerged as prominent TDP-43 splicing targets, but the broader impact of TDP-43-depend...

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Literature Corpus work: e7ccddcb-4d1b-502d-b696-c9039f9e6583
DOI: 10.1101/2025.08.28.672801

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