Clinically-identified C-terminal mutations in fibulin-3 are prone to misfolding and destabilization

Distinct mutations in the secreted extracellular matrix protein, fibulin-3 (F3), have been associated with a number of ocular diseases ranging from primary open angle glaucoma to cuticular age-related macular degeneration to a rare macular dystrophy, Malattia Leventinese (ML). The R345W F3 mutation...

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Detalles Bibliográficos
Autores principales: Woodard, DaNae R., Nakahara, Emi, Hulleman, John D.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862258/
https://www.ncbi.nlm.nih.gov/pubmed/33542268
http://dx.doi.org/10.1038/s41598-020-79570-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7862258/
https://www.ncbi.nlm.nih.gov/pubmed/33542268
http://dx.doi.org/10.1038/s41598-020-79570-x

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