Protein Composition of TGFBI-R124C- and TGFBI-R555W- Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.

David G Courtney, Ebbe Toftgaard Poulsen, Susan Kennedy, Johnny E Moore, Sarah Atkinson, Eleonora Maurizi, M. Andrew Nesbit, Tara Moore, Jan J Enghild

Research output: Contribution to journalArticlepeer-review

24 Citations (Scopus)

Abstract

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.
Original languageEnglish
Pages (from-to)4653-4661
Number of pages8
JournalINVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
Volume56
Issue number8
DOIs
Publication statusPublished - 2015

Keywords

  • Transforming growth factor beta-induced
  • Granular Corneal Dystrophy
  • Lattice Corneal Dystrophy

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