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

Reference73 articles.

1. The Primary Cilium as a Complex Signaling Center

2. The Primary Cilium as the Cell's Antenna: Signaling at a Sensory Organelle

3. A motility in the eukaryotic flagellum unrelated to flagellar beating.

4. Chlamydomonas Kinesin-II–dependent Intraflagellar Transport (IFT): IFT Particles Contain Proteins Required for Ciliary Assembly in Caenorhabditis elegans Sensory Neurons

5. Chlamydomonas IFT88 and Its Mouse Homologue, Polycystic Kidney Disease Gene Tg737, Are Required for Assembly of Cilia and Flagella

Cited by 38 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Xp21 DNA microdeletion syndrome in a Chinese family: clinical features show retinitis pigmentosa and chronic granuloma;Frontiers in Genetics;2024-01-26

2. Identification of a novel RPGR mutation associated with retinitis pigmentosa and primary ciliary dyskinesia in a Slovak family: a case report;Frontiers in Pediatrics;2024-01-25

3. An integrated study fusing systems biology and machine learning algorithms for genome-based discrimination of IPF and NSIP diseases: a new approach to the diagnostic challenge;Soft Computing;2023-11-11

4. Morphologically intact airways in lung fibrosis have an abnormal proteome;Respiratory Research;2023-04-01

5. Cellular and Molecular Mechanisms of Pathogenesis Underlying Inherited Retinal Dystrophies;Biomolecules;2023-02-01