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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Detalhes bibliográficos
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.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2011
Assuntos:
Molecular Bases of Disease
Acesso em linha: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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