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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Biochemistry and Molecular Biology 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220419/
https://www.ncbi.nlm.nih.gov/pubmed/34097874
http://dx.doi.org/10.1016/j.jbc.2021.100858

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220419/
https://www.ncbi.nlm.nih.gov/pubmed/34097874
http://dx.doi.org/10.1016/j.jbc.2021.100858

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