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Daniel Otzen

Comparison of two phenotypically distinct lattice corneal dystrophies caused by mutations in the transforming growth factor beta induced (TGFBI) gene

Research output: Contribution to journal/Conference contribution in journal/Contribution to newspaperJournal articleResearchpeer-review

  • Ebbe Toftgaard Poulsen, Denmark
  • Kasper Runager, Denmark
  • Michael W Risør, Denmark
  • Thomas Franck Dyrlund, Denmark
  • Carsten Scavenius
  • Henrik Karring, Denmark
  • Jeppe Praetorius
  • Henrik Vorum, Denmark
  • Daniel E Otzen
  • Gordon K Klintworth, Departments of Pathology and Ophthalmology, Duke University Medical Center, United States
  • Jan J Enghild
In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or a A546D/P551Q double substitution in TGFBIp, can be ascribed to (I) a difference in the proteomes of corneal amyloid deposits, (II) altered proteolysis of TGFBIp or (III) structural changes of TGFBIp introduced by the P551Q amino acid substitution.
Original languageEnglish
JournalProteomics - Clinical Applications
Pages (from-to)168-177
Number of pages10
Publication statusPublished - Apr 2014

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