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, charac...

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Autores principales: Patnaik, Sarita Rani, Raghupathy, Rakesh Kotapati, Zhang, Xun, Mansfield, David, Shu, Xinhua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466403/
https://www.ncbi.nlm.nih.gov/pubmed/26124960
http://dx.doi.org/10.1155/2015/414781
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author Patnaik, Sarita Rani
Raghupathy, Rakesh Kotapati
Zhang, Xun
Mansfield, David
Shu, Xinhua
author_facet Patnaik, Sarita Rani
Raghupathy, Rakesh Kotapati
Zhang, Xun
Mansfield, David
Shu, Xinhua
author_sort Patnaik, Sarita Rani
collection PubMed
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.
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spelling pubmed-44664032015-06-29 The Role of RPGR and Its Interacting Proteins in Ciliopathies Patnaik, Sarita Rani Raghupathy, Rakesh Kotapati Zhang, Xun Mansfield, David Shu, Xinhua J Ophthalmol Review Article 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. Hindawi Publishing Corporation 2015 2015-06-01 /pmc/articles/PMC4466403/ /pubmed/26124960 http://dx.doi.org/10.1155/2015/414781 Text en Copyright © 2015 Sarita Rani Patnaik et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Patnaik, Sarita Rani
Raghupathy, Rakesh Kotapati
Zhang, Xun
Mansfield, David
Shu, Xinhua
The Role of RPGR and Its Interacting Proteins in Ciliopathies
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
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4466403/
https://www.ncbi.nlm.nih.gov/pubmed/26124960
http://dx.doi.org/10.1155/2015/414781
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