Article

TDP-43 represses cryptic exon inclusion in FTD/ALS gene <i>UNC13A</i>

2021-04-04

Abstract excerpt

A hallmark pathological feature of 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. A major function of TDP-43 is as a repressor of cryptic exon inclusion during RNA splicing. Single nucleotide polymorphisms (SNPs) in UNC13A are among the strongest genome-wide as...

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Literature Corpus work: 0a8a08f3-8ffc-55c2-9c61-7ce04ad7536e
DOI: 10.1101/2021.04.02.438213

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