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A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD

26 Jan 2024

Abstract excerpt

Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well documented in postmortem tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), whether this abnormality occurs during early-stage disease remains unresolved. Cryptic exon inclusion reflects loss of function of TDP-43, and thus detection of proteins containing cryptic exon-encoded neoepitopes in...

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PMID: 38278991
DOI: 10.1038/s41591-023-02788-5

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