Disrupting the Repeat Domain of Premelanosome Protein (PMEL) Produces Dysamyloidosis and Dystrophic Ocular Pigment Reflective of Pigmentary Glaucoma

Pigmentary glaucoma has recently been associated with missense mutations in PMEL that are dominantly inherited and enriched in the protein’s fascinating repeat domain. PMEL pathobiology is intriguing because PMEL forms functional amyloid in healthy eyes, and this PMEL amyloid acts to scaffold melani...

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Detalles Bibliográficos
Autores principales: Hodges, Elizabeth D., Chrystal, Paul W., Footz, Tim, Doucette, Lance P., Noel, Nicole C. L., Li, Zixuan, Walter, Michael A., Allison, W. Ted
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10572516/
https://www.ncbi.nlm.nih.gov/pubmed/37833870
http://dx.doi.org/10.3390/ijms241914423

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