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. 2019 Jul 25;9:10828. doi: 10.1038/s41598-019-47243-z

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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Treatment with Ex41 skip ASO induces the expression of a near full-length CEP290 protein that localises at the TZ. (a) Immunofluorescence shows that CEP290 protein is not detectable in untreated P1 and P2 cells. Treatment with 5 μM Ex41 skip ASO in serum-free medium for 48 h rescues CEP290 protein expression which localises to the base of the cilium, in P1 and P2 cells. Notably, skipping of exon 41 does not alter CEP290 protein localisation in control lines C1 and C2. Green - CEP290, Red - ARL13B, Violet - pericentrin. Scale bar 5 μm. (b) Immunofluorescence shows that treatment with 5 μM Ex41 skip ASO in serum-free medium for 48 h induces the expression of near full-length CEP290 protein that localises at the same position along the ciliary proximal-distal axis as the TZ component TMEM67. Green - CEP290, Violet - TMEM67, Red - ARL13B. Scale bar 5 μm. (c) Immunofluorescence shows that treatment with 5 μM Ex41 skip ASO in serum-free medium for 48 h induces the expression of near full-length CEP290 protein that localises at the same position along the ciliary proximal-distal axis as the TZ component AHI1. Green - CEP290, Violet - AHI1, Red - ARL13B. Scale bar 5 μm. (d) Representative immunofluorescence micrographs of control fibroblasts C1, C2 and JBTS5 cells P1 and P2. PCM-1 localisation at centriolar satellites is not altered in the absence of full-length CEP290. Green - CEP290, Violet - PCM-1, Red - ARL13B. Scale bar 5 μm.

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