Article

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

2021-04-19

Abstract excerpt

<title>Abstract</title> <p>Variants within the <italic>UNC13A</italic> 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 <italic>UNC13A</italic>, a critical...

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Literature Corpus work: ed7907b8-e6c2-5ef2-ac32-5b272db2012c
DOI: 10.21203/rs.3.rs-386600/v1

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