Article

<i>JAG2</i> -related muscular dystrophy and Notch signaling dysfunction in muscle stem cells

2025-07-27

Abstract excerpt

<h4>ABSTRACT</h4> We previously identified a muscular dystrophy caused by biallelic variants in JAG2 , whose protein product Jagged2 is a canonical Notch ligand. However, the disease mechanism remains unclear, particularly with respect to muscle stem cell (MuSC) function and muscle regeneration. We examined the consequences of JAG2 deficiency and modeled pathogenic JAG2 variants in vitro and in vivo , the la...

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Literature Corpus work: 77e6841f-f994-563d-9886-218d5d01d7e7
DOI: 10.1101/2025.07.23.665646

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