2019
DOI: 10.1074/jbc.ra119.009712
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The myosin-tail homology domain of centrosomal protein 290 is essential for protein confinement between the inner and outer segments in photoreceptors

Abstract: 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 i… Show more

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Cited by 25 publications
(44 citation statements)
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“…Accumulation of IS proteins STX3 and STXBP1 in the OS has been described in all BBS mouse models examined and in Cep290 mutant mice (30)(31)(32)40). Mislocalization of these proteins was evident as early as at P13 (the youngest age examined) in Lztfl1 gt/gt mice and observed throughout the length of the OS (Figure 2D), indicating that the pathogenic process begins before or when the OS begins to elongate.…”
Section: Natural History Of Retinal Degeneration In Lztfl1 Gt/gt Micementioning
confidence: 76%
“…Accumulation of IS proteins STX3 and STXBP1 in the OS has been described in all BBS mouse models examined and in Cep290 mutant mice (30)(31)(32)40). Mislocalization of these proteins was evident as early as at P13 (the youngest age examined) in Lztfl1 gt/gt mice and observed throughout the length of the OS (Figure 2D), indicating that the pathogenic process begins before or when the OS begins to elongate.…”
Section: Natural History Of Retinal Degeneration In Lztfl1 Gt/gt Micementioning
confidence: 76%
“…The MYO-tail homology domain's presence may provide a structural backbone to the myosin motor and could facilitate the microtubule-associated transport of CEP290 to centrosomes [ 23 ]. This C-terminal domain is essential for protein confinement between the inner and outer segments in photoreceptors [ 24 ].…”
Section: Discussionmentioning
confidence: 99%
“…as previously described [25]. Frozen eyecups were mounted on a cryostat chuck in an orientation that sections became perpendicular to the retinal plane at the central retina.…”
Section: Immunohistochemistrymentioning
confidence: 99%
“…Retinal sections to assess NPHP1 localization to the connecting cilium were prepared as previously described [25]. Fluorescence intensities were measured using ImageJ/Fiji.…”
Section: Immunohistochemistrymentioning
confidence: 99%
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