Altered Protein Function Caused by AMD-associated Variant rs704 Links Vitronectin to Disease Pathology

URN to cite this document:: urn:nbn:de:bvb:355-epub-442775
DOI to cite this document:: 10.5283/epub.44277

Biasella, Fabiola ; Plössl, Karolina

; Karl, Claudia ; Weber, Bernhard H. F.

; Friedrich, Ulrike

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Date of publication of this fulltext: 13 Jan 2021 15:30

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Abstract

PURPOSE. Vitronectin, a cell adhesion and spreading factor, is suspected to play a role in the pathogenesis of age-related macular degeneration (AMD), as it is a major component of AMD-specific extracellular deposits (e.g., soft drusen, subretinal drusenoid deposits). The present study addressed the impact of AMD-associated non-synonymous variant rs704 in the vitronectin-encoding gene VTN on ...