Article

Differential effects of MATR3 variants on its cryptic splicing repression function

2023-12-08

Abstract excerpt

MATR3 is an RNA-binding protein implicated in neurodegenerative and neurodevelopmental diseases. However, little is known regarding the role of MATR3 in cryptic splicing within the context of functional genes and how disease-associated variants impact this function. We show that loss of MATR3 leads to cryptic exon inclusion in many transcripts. We reveal that ALS-linked S85C pathogenic variant reduces MATR3 solubi...

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Literature Corpus work: 2b3f8bf1-4fc7-582b-8f59-4e1f67d5cc9e
DOI: 10.1101/2023.12.07.570685

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