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Mutation in transforming growth factor beta induced protein associated with granular corneal dystrophy type 1 reduces the proteolytic susceptibility through local structural stabilization.
Underhaug J, Koldsø H, Runager K, Nielsen JT, Sørensen CS, Kristensen T, Otzen DE, Karring H, Malmendal A, Schiøtt B, Enghild JJ, Nielsen NC. Underhaug J, et al. Biochim Biophys Acta. 2013 Dec;1834(12):2812-22. doi: 10.1016/j.bbapap.2013.10.008. Epub 2013 Oct 12. Biochim Biophys Acta. 2013. PMID: 24129074 Free PMC article.
Human phenotypically distinct TGFBI corneal dystrophies are linked to the stability of the fourth FAS1 domain of TGFBIp.
Runager K, Basaiawmoit RV, Deva T, Andreasen M, Valnickova Z, Sørensen CS, Karring H, Thøgersen IB, Christiansen G, Underhaug J, Kristensen T, Nielsen NC, Klintworth GK, Otzen DE, Enghild JJ. Runager K, et al. Among authors: underhaug j. J Biol Chem. 2011 Feb 18;286(7):4951-8. doi: 10.1074/jbc.M110.181099. Epub 2010 Dec 6. J Biol Chem. 2011. PMID: 21135107 Free PMC article.
Early Events in the Amyloid Formation of the A546T Mutant of Transforming Growth Factor β-Induced Protein in Corneal Dystrophies Compared to the Nonfibrillating R555W and R555Q Mutants.
Koldsø H, Andersen OJ, Nikolajsen CL, Scavenius C, Sørensen CS, Underhaug J, Runager K, Nielsen NC, Enghild JJ, Schiøtt B. Koldsø H, et al. Among authors: underhaug j. Biochemistry. 2015 Sep 15;54(36):5546-56. doi: 10.1021/acs.biochem.5b00473. Epub 2015 Sep 2. Biochemistry. 2015. PMID: 26305369 Free PMC article.
40 results