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      Primary cilia biogenesis and associated retinal ciliopathies

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          Abstract

          The primary cilium is a ubiquitous microtubule-based organelle that senses external environment and modulates diverse signaling pathways in different cell types and tissues. The cilium originates from the mother centriole through a complex set of cellular events requiring hundreds of distinct components. Aberrant ciliogenesis or ciliary transport leads to a broad spectrum of clinical entities with overlapping yet highly variable phenotypes, collectively called ciliopathies, which include sensory defects and syndromic disorders with multi-organ pathologies. For efficient light detection, photoreceptors in the retina elaborate a modified cilium known as the outer segment, which is packed with membranous discs enriched for components of the phototransduction machinery. Retinopathy phenotype involves dysfunction and/or degeneration of the light sensing photoreceptors and is highly penetrant in ciliopathies. This review will discuss primary cilia biogenesis and ciliopathies, with a focus on the retina, and the role of CP110-CEP290-CC2D2A network. We will also explore how recent technologies can advance our understanding of cilia biology and discuss new paradigms for developing potential therapies of retinal ciliopathies.

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          Sub-diffraction-limit imaging by stochastic optical reconstruction microscopy (STORM).

          We have developed a high-resolution fluorescence microscopy method based on high-accuracy localization of photoswitchable fluorophores. In each imaging cycle, only a fraction of the fluorophores were turned on, allowing their positions to be determined with nanometer accuracy. The fluorophore positions obtained from a series of imaging cycles were used to reconstruct the overall image. We demonstrated an imaging resolution of 20 nm. This technique can, in principle, reach molecular-scale resolution.
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            Genes and molecular pathways underpinning ciliopathies

            Motile and non-motile primary cilia are nearly ubiquitous cellular organelles. Dysfunction of cilia is being found to cause increasing numbers of diseases that are known as ciliopathies. The characterization of ciliopathy-associated proteins and phenotypes is increasing our understanding of how cilia are formed and compartmentalized and how they function to maintain human health.
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              Development of a gene-editing approach to restore vision loss in Leber congenital amaurosis type 10

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                Author and article information

                Journal
                9607332
                20707
                Semin Cell Dev Biol
                Semin Cell Dev Biol
                Seminars in cell & developmental biology
                1084-9521
                1096-3634
                28 August 2020
                31 July 2020
                February 2021
                09 February 2021
                : 110
                : 70-88
                Affiliations
                Neurobiology, Neurodegeneration and Repair Laboratory, National Eye Institute, National Institutes of Health, MSC0610, 6 Center Drive, Bethesda, MD 20892, USA
                Author notes
                [* ]Corresponding authors: holly.chen@ 123456nih.gov (H.Y. Chen), swaroopa@ 123456nei.nih.gov (A. Swaroop).
                Article
                NIHMS1621297
                10.1016/j.semcdb.2020.07.013
                7855621
                32747192
                89955a84-2dab-4515-b506-222347216517

                This is an open access article under the CC BY license ( http://creativecommons.org/licenses/BY/4.0/)

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                Categories
                Article

                Developmental biology
                sensory cilia,ciliogenesis,photoreceptor,retinal degeneration,cep290,intracellular transport

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