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

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...

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Detalles Bibliográficos
Autores principales: Poli, Giulio, Barravecchia, Ivana, Demontis, Gian Carlo, Sodi, Andrea, Saba, Alessandro, Rizzo, Stanislao, Macchia, Marco, Tuccinardi, Tiziano
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2022
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225791/
https://www.ncbi.nlm.nih.gov/pubmed/35726567
http://dx.doi.org/10.1080/14756366.2022.2090547

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9225791/
https://www.ncbi.nlm.nih.gov/pubmed/35726567
http://dx.doi.org/10.1080/14756366.2022.2090547

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