The role of RPGR in cilia formation and actin stability

Milica Gakovic; Xinhua Shu; Ioannis Kasioulis; Sarah Carpanini; Ignacio Moraga; Alan F. Wright

doi:10.1093/hmg/ddr423

The role of RPGR in cilia formation and actin stability

Milica Gakovic, Xinhua Shu, Ioannis Kasioulis, Sarah Carpanini, Ignacio Moraga, Alan F. Wright

Biological and Biomedical Sciences

Research output: Contribution to journal › Article › peer-review

51 Citations (Scopus)

Abstract

Mutations in the retinitis pigmentosa GTPase regulator (RPGR) protein cause one of the most common and severe forms of inherited retinal dystrophy. In spite of numerous studies, the precise function of RPGR remains unclear, as is the mechanism by which RPGR mutations cause retinal degeneration. We have analysed the function of RPGR by RNA interference-mediated translational suppression [knockdown (KD)] using a model cellular system for studying the formation, maintenance and function of primary cilia (human telomerase-immortalized retinal pigmented epithelium 1 cells).

Original language	English
Pages (from-to)	4840-4850
Number of pages	11
Journal	Human Molecular Genetics
Volume	20
Issue number	24
Early online date	20 Sept 2011
DOIs	https://doi.org/10.1093/hmg/ddr423
Publication status	Published - 2011

Keywords

cilia formation
inherited retinal dystrophy
gene mutations

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10.1093/hmg/ddr423

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AU - Shu, Xinhua

AU - Kasioulis, Ioannis

AU - Carpanini, Sarah

AU - Moraga, Ignacio

AU - Wright, Alan F.

PY - 2011

Y1 - 2011

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AB - Mutations in the retinitis pigmentosa GTPase regulator (RPGR) protein cause one of the most common and severe forms of inherited retinal dystrophy. In spite of numerous studies, the precise function of RPGR remains unclear, as is the mechanism by which RPGR mutations cause retinal degeneration. We have analysed the function of RPGR by RNA interference-mediated translational suppression [knockdown (KD)] using a model cellular system for studying the formation, maintenance and function of primary cilia (human telomerase-immortalized retinal pigmented epithelium 1 cells).

KW - cilia formation

KW - inherited retinal dystrophy

KW - gene mutations

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JO - Human Molecular Genetics

JF - Human Molecular Genetics

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ER -

The role of RPGR in cilia formation and actin stability

Abstract

Keywords

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