Human Phenotypically Distinct TGFBI Corneal Dystrophies Are Linked to the Stability of the Fourth FAS1 Domain of TGFBIp

Mutations in the human TGFBI gene encoding TGFBIp have been linked to protein deposits in the cornea leading to visual impairment. The protein consists of an N-terminal Cys-rich EMI domain and four consecutive fasciclin 1 (FAS1) domains. We have compared the stabilities of wild-type (WT) human TGFBI...

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Main Authors: Runager, Kasper, Basaiawmoit, Rajiv V., Deva, Taru, Andreasen, Maria, Valnickova, Zuzana, Sørensen, Charlotte S., Karring, Henrik, Thøgersen, Ida B., Christiansen, Gunna, Underhaug, Jarl, Kristensen, Torsten, Nielsen, Niels Chr., Klintworth, Gordon K., Otzen, Daniel E., Enghild, Jan J.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Biochemistry and Molecular Biology 2011
Teme:
Molecular Bases of Disease
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC3037607/
https://ncbi.nlm.nih.gov/pubmed/21135107
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M110.181099
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