Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins

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منابع مشابه

The Role of RPGR and Its Interacting Proteins in Ciliopathies

Ciliopathies encompass a group of genetic disorders characterized by defects in the formation, maintenance, or function of cilia. Retinitis pigmentosa (RP) is frequently one of the clinical features presented in diverse ciliopathies. RP is a heterogeneous group of inherited retinal disorders, characterized by the death of photoreceptors and affecting more than one million individuals worldwide....

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The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly

We have identified Talpid3/KIAA0586 as a component of a CP110-containing protein complex important for centrosome and cilia function. Talpid3 assembles a ring-like structure at the extreme distal end of centrioles. Ablation of Talpid3 resulted in an aberrant distribution of centriolar satellites involved in protein trafficking to centrosomes as well as cilia assembly defects, reminiscent of los...

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RPGR isoforms in photoreceptor connecting cilia and the transitional zone of motile cilia.

PURPOSE The retinitis pigmentosa guanosine triphosphatase (GTPase) regulator (RPGR) is essential for photoreceptor survival. There is as yet no consensus concerning the subcellular localization of RPGR. This study was undertaken as a comprehensive effort to resolve current controversies. METHODS RPGR in mice and other mammalian species was examined by immunofluorescence. RPGR variants were di...

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CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies.

Distinct mutations in the centrosomal-cilia protein CEP290 lead to diverse clinical findings in syndromic ciliopathies. We show that CEP290 localizes to the transition zone in ciliated cells, precisely to the region of Y-linkers between central microtubules and plasma membrane. To create models of CEP290-associated ciliopathy syndromes, we generated Cep290(ko/ko) and Cep290(gt/gt) mice that pro...

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Biology of Cilia and Ciliopathies

Cilia and flagella are microtubule-based appendages extending from the basal body of most eukaryotic cells, and are classified as either motile or primary. Motile cilia or flagella can be found on many cells such as Chlamydomonas, sperm, and respiratory tract epithelial cells. This type of cilia is responsible for movement of the cell itself or generation of fluid flow. In contrast, primary cil...

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ژورنال

عنوان ژورنال: Cilia

سال: 2012

ISSN: 2046-2530

DOI: 10.1186/2046-2530-1-22