Ontology highlight
ABSTRACT:
SUBMITTER: Karan G
PROVIDER: S-EPMC554798 | biostudies-other | 2005 Mar
REPOSITORIES: biostudies-other
Proceedings of the National Academy of Sciences of the United States of America 20050304 11
Macular degeneration is a heterogeneous group of disorders characterized by photoreceptor degeneration and atrophy of the retinal pigment epithelium (RPE) in the central retina. An autosomal dominant form of Stargardt macular degeneration (STGD) is caused by mutations in ELOVL4, which is predicted to encode an enzyme involved in the elongation of long-chain fatty acids. We generated transgenic mice expressing a mutant form of human ELOVL4 that causes STGD. In these mice, we show that accumulatio ...[more]