Basement membrane
- Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
Summary: Key pathogenic events in anterior segment dysgenesis, a congenital ocular disease with complex etiology, are recapitulated in a mouse model of Col4a1-related ASD.
- ER stress and basement membrane defects combine to cause glomerular and tubular renal disease resulting from Col4a1 mutations in mice
Summary: Structural and compositional basement membrane defects and ER stress due to Col4a1 mutations cause glomerular and tubular kidney disease, and indicate cell-type-specific disease mechanisms for collagen diseases.