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Article

The era of cryptic exons: implications for ALS-FTD

15 Mar 2023

Abstract excerpt

TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 proteinopathy spans a spectrum of incurable, heterogeneous, and increasingly prevalent neurodegenerative diseases, including the amyotrophic lateral sclerosis and frontotemporal dementia disease spectrum and a significant fraction of...

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PMID: 36922834
DOI: 10.1186/s13024-023-00608-5

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