Article
Mutation-Induced Deamidation of Corneal Dystrophy-Related Transforming Growth Factor β-Induced Protein.
Biochemistry - 12 Dec 2017
Nielsen Nadia Sukusu, Juhl Dennis Wilkens, Poulsen Ebbe Toftgaard, Lukassen Marie V, Poulsen Emil Christian, Risør Michael W, Scavenius Carsten, Enghild Jan J
Abstract excerpt
Mutations in the transforming growth factor β-induced protein (TGFBIp) cause phenotypically diverse corneal dystrophies, where protein aggregation in the cornea leads to severe visual impairment. Previous studies have shown a relationship between mutant-specific corneal dystrophy phenotypes and the thermodynamic stability of TGFBIp. Using liquid chromatography-tandem mass spectrometry and nuclear magnetic...
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