The role of RPGR in cilia formation and actin stability

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

Research output: Contribution to journalArticle

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 languageEnglish
Pages (from-to)4840-4850
Number of pages11
JournalHuman Molecular Genetics
Volume20
Issue number24
Early online date20 Sep 2011
DOIs
Publication statusPublished - 2011

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Keywords

  • cilia formation
  • inherited retinal dystrophy
  • gene mutations

Cite this

Gakovic, M., Shu, X., Kasioulis, I., Carpanini, S., Moraga, I., & Wright, A. F. (2011). The role of RPGR in cilia formation and actin stability. Human Molecular Genetics, 20(24), 4840-4850. https://doi.org/10.1093/hmg/ddr423