Article

A fluid biomarker reveals loss of TDP-43 splicing repression in pre-symptomatic ALS

2023-01-24

Abstract excerpt

Loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well-documented in postmortem tissues of amyotrophic lateral sclerosis (ALS), yet whether this abnormality occurs during early-stage disease remains unresolved. Cryptic exon inclusion reflects functional loss of TDP-43, and thus detection of cryptic exon-encoded peptides in cerebrospinal fluid (CSF) could reveal the earliest stages of TDP-43 dy...

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Literature Corpus work: fb8019ee-a567-5825-a5c6-d02b53f3e8c7
DOI: 10.1101/2023.01.23.525202

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