Article
The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors.
The Journal of biological chemistry - 13 Dec 2019
Datta Poppy, Hendrickson Brandon, Brendalen Sarah, Ruffcorn Avri, Seo Seongjin
Abstract excerpt
Mutations in the centrosomal protein 290 (CEP290) gene cause various ciliopathies involving retinal degeneration. CEP290 proteins localize to the ciliary transition zone and are thought to act as a gatekeeper that controls ciliary protein trafficking. However, precise roles of CEP290 in photoreceptors and pathomechanisms of retinal degeneration in CEP290-associated ciliopathies are not sufficiently understood....
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