Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations

• Main Authors: Giulio Poli (Author), Ivana Barravecchia (Author), Gian Carlo Demontis (Author), Andrea Sodi (Author), Alessandro Saba (Author), Stanislao Rizzo (Author), Marco Macchia (Author), Tiziano Tuccinardi (Author)
• Format: Book
• Published: Taylor & Francis Group, 2022-12-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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 ther...