Mutation in Transforming Growth Factor Beta Induced protein associated with Granular Corneal Dystrophy Type 1 Reduces the Proteolytic Susceptibility through Local Structural Stabilization(#)

Hereditary mutations in the transforming growth factor beta induced (TGFBI) gene cause phenotypically distinct corneal dystrophies characterized by protein deposition in cornea. We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βi...

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Bibliographic Details
Main Authors: Underhaug, Jarl, Koldsø, Heidi, Runager, Kasper, Nielsen, Jakob Toudahl, Sørensen, Charlotte S., Kristensen, Torsten, Otzen, Daniel E., Karring, Henrik, Malmendal, Anders, Schiøtt, Birgit, Enghild, Jan J., Nielsen, Niels Chr.
Format: Artigo
Language:Inglês
Published: 2013
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4162128/
https://ncbi.nlm.nih.gov/pubmed/24129074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.bbapap.2013.10.008
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