Splicing the narrative: alternative TARDBP splicing and its relation to neurodegeneration in ALS and FTD - PubMed
5 hours ago
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- #TDP43
- Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative diseases linked to TDP43 protein aggregation.
- Alternative splicing of TARDBP gene produces diverse TDP43 isoforms with unique functions relevant to ALS and FTD pathogenesis.
- TDP43's nuclear clearance and cytoplasmic aggregation are key features in both sporadic and familial ALS/FTD cases.
- The review discusses the biology of alternative TARDBP splicing and its implications in TDP43 proteinopathies.
- Alternative splicing's broader role in disease is also considered.