Article
Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.
Human molecular genetics - 15 Dec 2016
Ramsay Ewan P, Collins Richard F, Owens Thomas W, Siebert C Alistair, Jones Richard P O, Wang Tao, Roseman Alan M, Baldock Clair
Abstract excerpt
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 cause of their pathology is ill-defined. Therefore, here we investigated the solution structure of the retinoschisin...
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