Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy

Sorsby fundus dystrophy (SFD) is a rare, inherited form of macular degeneration caused by mutations in the gene encoding tissue inhibitor of metalloproteinases 3 (TIMP-3). There are 21 mutations currently associated with SFD, with some variants (e.g., Ser179Cys, Tyr191Cys, and Ser204Cys) having been...

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Bibliographic Details

Published in:	Molecular vision Vol. 30; pp. 74 - 91
Main Authors:	Betts, Jacob H J, Troeberg, Linda
Format:	Journal Article
Language:	English
Published:	United States Molecular Vision 2024
Subjects:	Angiogenesis Cell culture Dimerization Dystrophy Macular degeneration Metabolomics Metalloproteinase Molecular modelling Mutation Tissue inhibitor of metalloproteinase 3
ISSN:	1090-0535, 1090-0535
Online Access:	Get full text
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