[HTML][HTML] The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors
P Datta, B Hendrickson, S Brendalen, A Ruffcorn… - Journal of Biological …, 2019 - ASBMB
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. Using conditional Cep290
mutant mice, in which the C-terminal myosin-tail homology domain of CEP290 is disrupted …
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. Using conditional Cep290
mutant mice, in which the C-terminal myosin-tail homology domain of CEP290 is disrupted …