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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

23 Feb 2022

Abstract excerpt

Abstract A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein TDP-43 from the nucleus of neurons in the brain and spinal cord 1 . A major function of TDP-43 is as a repressor of cryptic exon inclusion during RNA splicing 2–4 . Single nucleotide polymorphisms in UNC13A are among the strongest...

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PMID: 35197626
DOI: 10.1038/s41586-022-04424-7

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TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13APMID 35197626Read ↗

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