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Article

Aberrant NOVA1 function disrupts alternative splicing in early stages of amyotrophic lateral sclerosis

1 Jul 2022

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a fatal disease characterized by aberrant alternative splicing (AS). Nuclear loss and cytoplasmic accumulation of the splicing factor TDP-43 in motor neurons (MN) are hallmarks of ALS at late stages of the disease. However, it is unknown if altered AS is present before TDP-43 pathology occurs. Here, we investigate altered AS and its origins in early stages of ALS using human...

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PMID: 35778567
DOI: 10.1007/s00401-022-02450-3

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