Predicting potentially pathogenic effects of hRPE65 missense mutations: a computational strategy based on molecular dynamics simulations
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Enzyme Inhibition and Medicinal Chemistry"
DOI: 10.1080/14756366.2022.2090547
Abstract: Abstract 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… read more here.
Keywords: hrpe65 missense; potentially pathogenic; pathogenic effects; missense mutations ... See more keywords
An in silico toolbox for the prediction of the potential pathogenic effects of missense mutations in the dimeric region of hRPE65
Sign Up to like & getrecommendations! Published in 2023 at "Journal of Enzyme Inhibition and Medicinal Chemistry"
DOI: 10.1080/14756366.2022.2162047
Abstract: Abstract hRPE65 is a fundamental enzyme of the retinoid visual cycle, and many missense mutations affecting its expression or function are associated with a wide range of diseases. Many hRPE65 missense mutations lack a clear… read more here.
Keywords: hrpe65 missense; silico toolbox; missense mutations; hrpe65 ... See more keywords