ArticleMolecular therapy : the journal of the American Society of Gene Therapy2025
Understanding the role of NOTCH2 mutation in centronuclear myopathy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed.
- NOTCH2 mutation in centronuclear myopathy: Beyond the scope.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
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20 authors.
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Abstract
NOTCH2 is a widely expressed protein that plays a crucial role in the normal development and function of various tissues, including skeletal muscle. This study focused on a pedigree with centronuclear myopathy, primarily characterized by muscle weakness and centralized nuclei, and identified the autosomal recessive NOTCH2 p.I1689F mutation through whole-exome sequencing. Using a homologous mutant mouse model, several defects were identified that elucidate the muscle phenotype. These defects include a reduction in Pax7-expressing, proliferating myoblasts and the functional consequences of this reduction. In vitro studies demonstrated that the Notch2 mutation impaired proliferation and causing premature differentiation of myogenic progenitor cells. Mechanistically, the Notch2 mutation resulted in decreased production of the Notch2 intracellular domain from γ-secretase S3 cleavage, which affected the function of Pax7
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