Mutation-induced dimerization of transforming growth factor-β–induced protein may drive protein aggregation in granular corneal dystrophy

Protein aggregation in the outermost layers of the cornea, which can lead to cloudy vision and in severe cases blindness, is linked to mutations in the extracellular matrix protein transforming growth factor-β–induced protein (TGFBIp). Among the most frequent pathogenic mutations are R124H and R555W...

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Dettagli Bibliografici
Pubblicato in:J Biol Chem
Autori principali: Nielsen, Nadia Sukusu, Gadeberg, Trine A.F., Poulsen, Ebbe Toftgaard, Harwood, Seandean Lykke, Weberskov, Christian E., Pedersen, Jan Skov, Andersen, Gregers R., Enghild, Jan J.
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society for Biochemistry and Molecular Biology 2021
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Research Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC8220419/
https://ncbi.nlm.nih.gov/pubmed/34097874
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jbc.2021.100858
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