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

Ebbe Toftgaard Poulsen, Kasper Runager, Michael W Risør, Thomas Franck Dyrlund, Carsten Scavenius, Henrik Karring, Jeppe Praetorius, Henrik Vorum, Daniel E Otzen, Gordon K Klintworth, Jan J Enghild

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Abstract

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
Volume8
Issue3-4
Pages (from-to)168-177
Number of pages10
ISSN1862-8346
DOIs
Publication statusPublished - Apr 2014

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