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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 newspaper › Journal article › Research › peer-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, Duke University, United States
- Jan J Enghild
- Interdisciplinary Nanoscience Center - INANO-MBG, iNANO-huset
- Department of Molecular Biology and Genetics - Protein science
- Interdisciplinary Nanoscience Center
- Department of Molecular Biology
- Department of Biomedicine - Forskning og uddannelse, Syd
- Department of Clinical Medicine - Øjenafdelingen, Aalborg Sygehus
- Interdisciplinary Nanoscience Center - INANO-MBG, Gustav Wied 10
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 language | English |
|---|---|
| Journal | Proteomics - Clinical Applications |
| Volume | 8 |
| Issue | 3-4 |
| Pages (from-to) | 168-177 |
| Number of pages | 10 |
| ISSN | 1862-8346 |
| DOIs | |
| Publication status | Published - Apr 2014 |
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ID: 67153190