Article

An ALS-associated TARDBP mutation drives cryptic exon inclusion and RNA dysregulation

2025-11-10

Abstract excerpt

TAR DNA–binding protein 43 (TDP-43) proteinopathy is a defining pathological feature of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), yet the downstream molecular events linking TDP-43 dysfunction to neurodegeneration remain incompletely understood. Here, we model TDP-43 proteinopathy by introducing the ALS/FTD-associated TARDBP K181E mutation into human induced pluripotent stem cells and...

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Literature Corpus work: ecde4668-509f-512b-b988-5889771a8ed8
DOI: 10.1101/2025.11.09.687455

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