Article

DNMT3B splicing dysregulation mediated by SMCHD1 loss contributes to DUX4 overexpression and FSHD pathogenesis

2023-09-12

Abstract excerpt

<title>Abstract</title> <p>SMCHD1 is a non-canonical SMC protein and an epigenetic regulator. Mutations in SMCHD1 cause facioscapulohumeral muscular dystrophy type 2 (FSHD2), a genetic disorder characterized by progressive muscle weakness and wasting, believed to be caused by aberrant expression of DUX4 in muscle cells. Here we demonstrate a new role for SMCHD1 as a regulator of alternative splicing in various ce...

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Literature Corpus work: 3ccbbe70-20d5-5fbb-bf79-e7220c249f79
DOI: 10.21203/rs.3.rs-3247471/v1

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