The Role of RPGR and Its Interacting Proteins in Ciliopathies-Reference-Cited by-同舟云学术

The Role of RPGR and Its Interacting Proteins in Ciliopathies

Published:2015 Issue: Volume:2015 Page:1-10
ISSN:2090-004X
Container-title:Journal of Ophthalmology
language:en
Short-container-title:Journal of Ophthalmology

Author:

Patnaik Sarita Rani¹,Raghupathy Rakesh Kotapati¹,Zhang Xun¹,Mansfield David²^ORCID,Shu Xinhua¹^ORCID

Affiliation:

1. Department of Life Sciences, Glasgow Caledonian University, Glasgow G4 0BA, UK

2. Inverclyde Royal Hospital, Greenock PA16 0XN, UK

Abstract

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. Theretinitis 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.

Publisher

Hindawi Limited

Subject

Ophthalmology

Link

http://downloads.hindawi.com/journals/joph/2015/414781.pdf

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