The study reveals previously unknown differences between the protein composition of GCD1 and LCD1 aggregates, and confirms the presence of the HtrA1 protease in LCD1-amyloid aggregates. In addition, we find mutation-specific differences in the processing of mutant TGFBIp species, which may contribute to the variable phenotypes noted in TGFBI-related dystrophies.
- Transforming growth factor beta-induced
- Granular Corneal Dystrophy
- Lattice Corneal Dystrophy
Courtney, D. G., Toftgaard Poulsen, E., Kennedy, S., Moore, J. E., Atkinson, S., Maurizi, E., Nesbit, M. A., Moore, T., & Enghild, J. J. (2015). Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 56(8), 4653-4661. https://doi.org/10.1167/iovs.15-16922