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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Détails bibliographiques
Auteurs principaux: 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
Langue:Inglês
Publié: American Society for Biochemistry and Molecular Biology 2011
Sujets:
Molecular Bases of Disease
Accès en ligne: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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