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Predicting potentially pathogenic effects of h RPE65 missense mutations: a computational strategy based on molecular dynamics simulations

21 Jun 2022

Abstract excerpt

The human retinal pigment epithelium-specific 65-kDa protein (hRPE65) plays a crucial role within the retinoid visual cycle and several mutations affecting either its expression level or its enzymatic function are associated with inherited retinal diseases such as Retinitis Pigmentosa. The gene therapy product voretigene neparvovec (Luxturna) has been recently approved for treating hereditary retinal dystrophies;...

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PMID: 35726567
DOI: 10.1080/14756366.2022.2090547

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