The role of RPGR and its interacting proteins in ciliopathies

Sarita Rani Patnaik; Rakesh Kotapati Raghupathy; Xun Zhang; David Mansfield; Xinhua Shu

doi:10.1155/2015/414781

The role of RPGR and its interacting proteins in ciliopathies

Sarita Rani Patnaik, Rakesh Kotapati Raghupathy, Xun Zhang, David Mansfield, Xinhua Shu^*

^*Corresponding author for this work

Strathclyde Institute Of Pharmacy And Biomedical Sciences

Research output: Contribution to journal › Review article › peer-review

53 Citations (Scopus)

7 Downloads (Pure)

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. 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.

Original language	English
Article number	414781
Number of pages	11
Journal	Journal of Ophthalmology
Volume	2015
DOIs	https://doi.org/10.1155/2015/414781
Publication status	Published - 1 Jun 2015

Funding

The authors would like to thank the National Eye Research Centre, Rosetrees Trust, Fight for Sight, Tenovus Scotland, the Visual Research Trust, the W. H. Ross Foundation, Yorkhill Children’s Charity, and the Carnegie Trust for the Universities of Scotland for supporting this work.

Keywords

ciliopathy
retinitis pigmentosa
RPGR
RPGRIP1
RPGRIP1L

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Patnaik-etal-JO-2015-The-role-of-RPGR-and-its-interacting-proteins-in-ciliopathiesFinal published version, 2.32 MBLicence: CC BY 3.0

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title = "The role of RPGR and its interacting proteins in ciliopathies",

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. 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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AU - Patnaik, Sarita Rani

AU - Raghupathy, Rakesh Kotapati

AU - Zhang, Xun

AU - Mansfield, David

AU - Shu, Xinhua

PY - 2015/6/1

Y1 - 2015/6/1

N2 - 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.

AB - 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.

KW - ciliopathy

KW - retinitis pigmentosa

KW - RPGR

KW - RPGRIP1

KW - RPGRIP1L

U2 - 10.1155/2015/414781

DO - 10.1155/2015/414781

M3 - Review article

AN - SCOPUS:84934954799

SN - 2090-004X

VL - 2015

JO - Journal of Ophthalmology

JF - Journal of Ophthalmology

M1 - 414781

ER -

The role of RPGR and its interacting proteins in ciliopathies

Abstract

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