COL4A1
- Use of sodium 4-phenylbutyrate to define therapeutic parameters for reducing intracerebral hemorrhage and myopathy in Col4a1 mutant mice
Summary: COL4A1 mutations cause a multisystem disorder by impairing secretion of COL4A1/A2 heterotrimers. We define parameters for reducing stroke and myopathy in Col4a1 mutant mice by pharmacologically promoting heterotrimer secretion.
- 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.