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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2013
Pynciau:
Article
Mynediad Ar-lein: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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