Retinitis Pigmentosa GTPase Regulator (RPGR) protein isoforms in mammalian retina: Insights into X-linked Retinitis Pigmentosa and associated ciliopathies
- 29 February 2008
- journal article
- Published by Elsevier BV in Vision Research
- Vol. 48 (3), 366-376
- https://doi.org/10.1016/j.visres.2007.08.005
Abstract
No abstract availableKeywords
This publication has 76 references indexed in Scilit:
- The Proteome of the Mouse Photoreceptor Sensory Cilium ComplexMolecular & Cellular Proteomics, 2007
- Pleiotropic Effects of CEP290 (NPHP6) Mutations Extend to Meckel SyndromeAmerican Journal of Human Genetics, 2007
- CEP290 Mutations Are Frequently Identified in the Oculo-Renal Form of Joubert Syndrome–Related DisordersAmerican Journal of Human Genetics, 2007
- Genome-wide transcription and the implications for genomic organizationNature Reviews Genetics, 2007
- The Intraflagellar Transport Protein IFT20 Is Associated with the Golgi Complex and Is Required for Cilia AssemblyMolecular Biology of the Cell, 2006
- Mutations in the CEP290 (NPHP6) Gene Are a Frequent Cause of Leber Congenital AmaurosisAmerican Journal of Human Genetics, 2006
- Mapping a new genetic locus for X linked retinitis pigmentosa to Xq28Journal of Medical Genetics, 2006
- In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouseHuman Molecular Genetics, 2006
- Gli2 and Gli3 Localize to Cilia and Require the Intraflagellar Transport Protein Polaris for Processing and FunctionPLoS Genetics, 2005
- Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosisHuman Molecular Genetics, 2005