Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2
Author:
Funder
Saudi Arabia Cultural Bureau in London
Publisher
Elsevier BV
Subject
Cell Biology,Genetics (clinical),Molecular Biology,Biochemistry
Reference5 articles.
1. A novel tissue inhibitor of metalloproteinases-3 mutation reveals a common molecular phenotype in Sorsby's fundus dystrophy;Langton;J Biol Chem,2000
2. Clinical and biochemical effects of the E139K missense mutation in the TIMP3 gene, associated with Sorsby fundus dystrophy;Saihan;Mol Vis,2009
3. A novel His158Arg mutation in TIMP3 causes a late-onset form of Sorsby fundus dystrophy;Lin;Am J Ophthalmol,2006
4. The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond;Naessens;Hum Mutat,2019
5. Tissue inhibitor of metalloproteinases-3 peptides inhibit angiogenesis and choroidal neovascularization in mice;Hua;PLoS One,2013
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