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Article

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

3 Jun 2026

Abstract excerpt

Abstract 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...

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PMID: 40949955
DOI: 10.1126/scitranslmed.aeb8517

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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