Fibril Core of Transforming Growth Factor Beta-Induced Protein (TGFBIp) Facilitates Aggregation of Corneal TGFBIp.
作者： Charlotte S Sørensen , Kasper Runager , Carsten Scavenius , Morten M Jensen , Nadia S Nielsen
DOI: 10.1021/ACS.BIOCHEM.5B00292
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摘要: Mutations in the transforming growth factor beta-induced (TGFBI) gene result a group of hereditary diseases cornea that are collectively known as TGFBI corneal dystrophies. These mutations translate into amino acid substitutions mainly within fourth fasciclin 1 domain (FAS1-4) protein (TGFBIp) and cause either amyloid or nonamyloid aggregates anterior central parts cornea, depending on mutation. The A546T substitution TGFBIp causes lattice dystrophy (LCD), which manifests amyloid-type stroma. We previously showed renders FAS1-4 thermodynamically less stable compared with wild-type (WT) protein, mutant is prone to formation vitro. In present study, we identified core fibrils. Significantly, Y571-R588 region TGFBIp, found be ...
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