Disease Category: x-linked
Known Clinical Trials: 8 recruiting
Strategies to Preserve Eye Health:
Institution(s) Conducting Research: Children's Hospital L.A., Vitreo Retinal Associates, Emory Eye Center, Univ of Florida, Boston Children's Hospital, Columbia Univ, Shiley Eye Institute, Mass Eye & Ear, Tokyo Med Center, Duke Eye Center, Casey Eye Center, Retina Foundation Southwest, Univ of Colorado, Kellogg Eye Center
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Prenylated retinal ciliopathy protein RPGR interacts with PDE6δ and regulates ciliary localization of Joubert syndrome-associated protein INPP5E
Kollu Rao, Wei Zhang, Linjing Li, Manisha Anand, Hemant Khanna | Human Molecular Genetics | Vol. 25 (20) | 4533 - 4545 | 2016 Oc 15 |
These results implicate prenylation of RPGR as a critical modification for its localization to cilia and, in turn suggest that trafficking of INPP5E to cilia depends upon the interaction of RPGR with PDE6δ. Finally, our results implicate INPP5E, a novel RPGR-interacting protein, in the pathogenesis of RPGR-associated ciliopathies.
X-linked Retinitis Pigmentosa: RPGR Mutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15
Ingrid Bader, Oliver Brandau, Helene Achatz, Eckart Apfelstedt-Sylla, Martin Hergersberg, Birgit Lorenz, Bernd Wissinger, Bärbel Wittwer, Günther Rudolph, Alfons Meindl, Thomas Meitinger | Invest Ophthal & Visual Science | 2003 Apr | Vol. 44 | 1458-1463 | doi.org/10.1167/iovs.02-0605
A comprehensive screening was conducted for RP2 and retinitis pigmentosa GTPase regulator (RPGR) gene mutations including RPGR exon ORF15 in 58 index patients. The frequency of RPGR mutations was assessed in families with definite X-linked recessive disease (xlRP), and a strategy for analyzing the highly repetitive mutational hot spot in exon ORF15 is provided.
Jasmina Cehajic-Kapetanovic, Michelle E. McClements, Jennifer Whitfield, Morag Shanks, Penny Clouston, Robert E. MacLaren | JAMA Ophthalmoly | 2020 | Vol. 138, Issue 11 | 1151-1158 | doi:10.1001/jamaophthalmol.2020.3634
Pathogenic variants in retinitis pigmentosa GTPase regulator (RPGR) gene typically lead to a severe form of X-linked retinitis pigmentosa, which is associated with early severe vision loss. Objective: To investigate an X-linked retinal degeneration family with atypical preservation of visual acuity in the presence of a novel deep intronic splice site RPGR c.779-5T>G variant.
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