The Role of RPGR and Its Interacting Proteins in Ciliopathies
Joint Authors
Shu, Xinhua
Patnaik, Sarita Rani
Raghupathy, Rakesh Kotapati
Zhang, Xun
Mansfield, David
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-10, 10 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-06-01
Country of Publication
Egypt
No. of Pages
10
Main Subjects
Abstract EN
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.
American Psychological Association (APA)
Patnaik, Sarita Rani& Raghupathy, Rakesh Kotapati& Zhang, Xun& Mansfield, David& Shu, Xinhua. 2015. The Role of RPGR and Its Interacting Proteins in Ciliopathies. Journal of Ophthalmology،Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1069730
Modern Language Association (MLA)
Patnaik, Sarita Rani…[et al.]. The Role of RPGR and Its Interacting Proteins in Ciliopathies. Journal of Ophthalmology No. 2015 (2015), pp.1-10.
https://search.emarefa.net/detail/BIM-1069730
American Medical Association (AMA)
Patnaik, Sarita Rani& Raghupathy, Rakesh Kotapati& Zhang, Xun& Mansfield, David& Shu, Xinhua. The Role of RPGR and Its Interacting Proteins in Ciliopathies. Journal of Ophthalmology. 2015. Vol. 2015, no. 2015, pp.1-10.
https://search.emarefa.net/detail/BIM-1069730
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1069730