Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization.

Abstract excerpt

Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML). The R345W F3 mutation that causes ML leads to F3 misfolding, inefficient secretion and accumulation at higher intracellular steady state...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Cell Line
• Share to Extracellular Matrix Proteins
• Share to Glaucoma, Open-Angle