Article

Light Chain Neurofilament to HDGFL2 cryptic peptide ratio as a fluid biomarker to monitor TDP-43 dysfunction in ALS and FTD

2026-07-07

Abstract excerpt

<title>Abstract</title> <p>TDP-43 proteinopathy is a neuropathological hallmark of 97% ALS and around half of FTD cases. Loss of nuclear TDP-43 leads to RNA misprocessing, including impairment of its ability to repress the inclusion of cryptic exons during RNA splicing. Notably, in-frame cryptic exons encode novel cryptic peptides that can be detected in biofluids, including those found in the HDGFL2 transcript....

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Literature Corpus work: 84845b68-672d-502f-abdd-d68f9be26e9e
DOI: 10.21203/rs.3.rs-9882697/v1

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