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 journalArticle

21 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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