Article
Dominant and recessive mutations in rhodopsin activate different cell death pathways.
Human molecular genetics - 1 Jul 2016
Comitato Antonella, Di Salvo Maria Teresa, Turchiano Giandomenico, Montanari Monica, Sakami Sanae, Palczewski Krzysztof, Marigo Valeria
Abstract excerpt
Mutations in rhodopsin (RHO) are a common cause of retinal dystrophy and can be transmitted by dominant or recessive inheritance. Clinical symptoms caused by dominant and recessive mutations in patients and animal models are very similar but the molecular mechanisms leading to retinal degeneration may differ. We characterized three murine models of retina degeneration caused by either Rho loss of function or...
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