Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.

Abstract

The tissue inhibitor of metalloproteinases-3 (TIMP3) is a multifunctional protein tightly associated with the extracellular matrix (ECM). A specific type of mutation in TIMP3 which results in potentially unpaired cysteine residues at the C-terminus of the protein has been shown to cause Sorsby fundus dystrophy (SFD), an autosomal dominant retinopathy of… (More)

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Cite this paper

@article{Soboleva2003SorsbyFD, title={Sorsby fundus dystrophy mutation Timp3(S156C) affects the morphological and biochemical phenotype but not metalloproteinase homeostasis.}, author={Galina Soboleva and Birgit Geis and Heinrich Schrewe and Bernhard H F Weber}, journal={Journal of cellular physiology}, year={2003}, volume={197 1}, pages={149-56} }