The role of RPGR and its interacting proteins in ciliopathies

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

Research output: Contribution to journalArticle

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 languageEnglish
Article number414781
Number of pages10
JournalJournal of Ophthalmology
Volume2015
DOIs
Publication statusPublished - 2015

Fingerprint

Retinitis Pigmentosa
GTP Phosphohydrolases
Proteins
Inborn Genetic Diseases
Cilia
Protein Transport
Regulator Genes
Maintenance
Ciliopathies

Keywords

  • cilopathies
  • genetic disorders
  • retinitis pigmentosa

Cite this

Patnaik, S. R., Raghupathy, R. K., Zhang, X., Mansfield, D., & Shu, X. (2015). The role of RPGR and its interacting proteins in ciliopathies. Journal of Ophthalmology, 2015, [414781]. https://doi.org/10.1155/2015/414781
Patnaik, Sarita Rani ; Raghupathy, Rakesh Kotapati ; Zhang, Xun ; Mansfield, David ; Shu, Xinhua. / The role of RPGR and its interacting proteins in ciliopathies. In: Journal of Ophthalmology. 2015 ; Vol. 2015.
@article{a34e80ff4c3c46d0a52622a58b98971c,
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.",
keywords = "cilopathies, genetic disorders, retinitis pigmentosa",
author = "Patnaik, {Sarita Rani} and Raghupathy, {Rakesh Kotapati} and Xun Zhang and David Mansfield and Xinhua Shu",
year = "2015",
doi = "10.1155/2015/414781",
language = "English",
volume = "2015",
journal = "Journal of Ophthalmology",
issn = "2090-004X",
publisher = "Hindawi",

}

The role of RPGR and its interacting proteins in ciliopathies. / Patnaik, Sarita Rani ; Raghupathy, Rakesh Kotapati; Zhang, Xun; Mansfield, David ; Shu, Xinhua.

In: Journal of Ophthalmology, Vol. 2015, 414781, 2015.

Research output: Contribution to journalArticle

TY - JOUR

T1 - The role of RPGR and its interacting proteins in ciliopathies

AU - Patnaik, Sarita Rani

AU - Raghupathy, Rakesh Kotapati

AU - Zhang, Xun

AU - Mansfield, David

AU - Shu, Xinhua

PY - 2015

Y1 - 2015

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 - cilopathies

KW - genetic disorders

KW - retinitis pigmentosa

U2 - 10.1155/2015/414781

DO - 10.1155/2015/414781

M3 - Article

VL - 2015

JO - Journal of Ophthalmology

JF - Journal of Ophthalmology

SN - 2090-004X

M1 - 414781

ER -