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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Detaylı Bibliyografya
Yayımlandı:J Biol Chem
Asıl Yazarlar: 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.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: American Society for Biochemistry and Molecular Biology 2021
Konular:
Research Article
Online Erişim: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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