Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function

Retinoschisin, an octameric retinal-specific protein, is essential for retinal architecture with mutations causing X-linked retinoschisis (XLRS), a monogenic form of macular degeneration. Most XLRS-associated mutations cause intracellular retention, however a subset are secreted as octamers and the...

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Detalles Bibliográficos
Autores principales: Ramsay, Ewan P., Collins, Richard F., Owens, Thomas W., Siebert, C. Alistair, Jones, Richard P.O., Wang, Tao, Roseman, Alan M., Baldock, Clair
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2016
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5418834/
https://www.ncbi.nlm.nih.gov/pubmed/27798099
http://dx.doi.org/10.1093/hmg/ddw345

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