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, chara...
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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Journal of Ophthalmology |
| Online Access: | http://dx.doi.org/10.1155/2015/414781 |
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| author | Sarita Rani Patnaik Rakesh Kotapati Raghupathy Xun Zhang David Mansfield Xinhua Shu |
| author_facet | Sarita Rani Patnaik Rakesh Kotapati Raghupathy Xun Zhang David Mansfield Xinhua Shu |
| author_sort | Sarita Rani Patnaik |
| collection | DOAJ |
| description | 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. The retinitis pigmentosa GTPase regulator (RPGR) gene is mutated in up to 20% of all RP patients. RPGR protein has different interacting partners to function in ciliary protein trafficking. In this review, we specifically focus on RPGR and its two interacting proteins: RPGRIP1 and RPGRIP1L. We summarize the function of the three proteins and highlight recent studies that provide insight into the cellular function of those proteins. |
| format | Article |
| id | doaj-art-869c9238c96a470598d8fe615afd4903 |
| institution | OA Journals |
| issn | 2090-004X 2090-0058 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Journal of Ophthalmology |
| spelling | doaj-art-869c9238c96a470598d8fe615afd49032025-08-20T02:08:46ZengWileyJournal of Ophthalmology2090-004X2090-00582015-01-01201510.1155/2015/414781414781The Role of RPGR and Its Interacting Proteins in CiliopathiesSarita Rani Patnaik0Rakesh Kotapati Raghupathy1Xun Zhang2David Mansfield3Xinhua Shu4Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UKDepartment of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UKDepartment of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UKInverclyde Royal Hospital, Greenock PA16 0XN, UKDepartment of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UKCiliopathies 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. The retinitis pigmentosa GTPase regulator (RPGR) gene is mutated in up to 20% of all RP patients. RPGR protein has different interacting partners to function in ciliary protein trafficking. In this review, we specifically focus on RPGR and its two interacting proteins: RPGRIP1 and RPGRIP1L. We summarize the function of the three proteins and highlight recent studies that provide insight into the cellular function of those proteins.http://dx.doi.org/10.1155/2015/414781 |
| spellingShingle | Sarita Rani Patnaik Rakesh Kotapati Raghupathy Xun Zhang David Mansfield Xinhua Shu The Role of RPGR and Its Interacting Proteins in Ciliopathies Journal of Ophthalmology |
| title | The Role of RPGR and Its Interacting Proteins in Ciliopathies |
| title_full | The Role of RPGR and Its Interacting Proteins in Ciliopathies |
| title_fullStr | The Role of RPGR and Its Interacting Proteins in Ciliopathies |
| title_full_unstemmed | The Role of RPGR and Its Interacting Proteins in Ciliopathies |
| title_short | The Role of RPGR and Its Interacting Proteins in Ciliopathies |
| title_sort | role of rpgr and its interacting proteins in ciliopathies |
| url | http://dx.doi.org/10.1155/2015/414781 |
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