Article

Common ALS/FTD risk variants in <i>UNC13A</i> exacerbate its cryptic splicing and loss upon TDP-43 mislocalization

2021-04-04

Abstract excerpt

Variants within the UNC13A gene have long been known to increase risk of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), two related neurodegenerative diseases defined by mislocalization of the RNA-binding protein TDP-43. Here, we show that TDP-43 depletion induces robust inclusion of a cryptic exon (CE) within UNC13A , a critical synaptic gene, resulting in nonsense-mediated decay and pro...

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Literature Corpus work: 08bea003-d59c-5c6c-b496-268e567cdf01
DOI: 10.1101/2021.04.02.438170

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