DAB2 in LGMD R2: a molecular link between disease progression and lipid dysregulation - PubMed
5 hours ago
- #LGMD R2
- #DAB2
- #lipid dysregulation
- DAB2 identified as a molecular and clinical indicator in LGMD R2.
- DAB2 levels increase with disease progression in dysferlin-deficient models.
- AAV-mediated dysferlin expression restores DAB2 levels, indicating therapeutic potential.
- DAB2 linked to lipid dysregulation in LGMD R2, affecting cholesterol homeostasis.
- High DAB2 expression correlates with lipid deposition in patient muscles and models.
- DAB2 knockdown reduces lipid accumulation in LGMD R2 myotubes.
- DAB2 serves as a link between dysferlin deficiency, lipid handling, and disease severity.