Article
Expression of Sorsby's fundus dystrophy mutations in human retinal pigment epithelial cells reduces matrix metalloproteinase inhibition and may promote angiogenesis.
The Journal of biological chemistry - 19 Apr 2002
Qi Jian Hua, Ebrahem Quteba, Yeow Karen, Edwards Dylan R, Fox Paul L, Anand-Apte Bela
Abstract excerpt
Sorsby's fundus dystrophy (SFD) is an autosomal dominant degenerative disease of the macula caused by mutations in the tissue inhibitor of metalloproteinase-3 (TIMP-3) gene. Choroidal neovascularization is a hallmark of this disease, which closely resembles the exudative form of age-related macular degeneration. However, the mechanism by which TIMP-3 mutations induce the disease phenotype in SFD remains unknown....
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