Associated Papers
A novel RP2 missense mutation Q158P identified in an X-linked retinitis pigmentosa family impaired RP2 protein stability.
Zhang J et al.
Gene, 2019
Pathogenic mutations in retinitis pigmentosa 2 predominantly result in loss of RP2 protein stability in humans and zebrafish.
Liu F et al.
The Journal of Biological Chemistry, 2017
A ternary complex comprising transportin1, Rab8 and the ciliary targeting signal directs proteins to ciliary membranes.
Madugula V et al.
Journal of Cell Science, 2016
Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
Raghupathy RK et al.
Zebrafish, 2013
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.
Hurd TW et al.
Journal of Cell Science, 2011
Functional analysis of retinitis pigmentosa 2 (RP2) protein reveals variable pathogenic potential of disease-associated missense variants.
Patil SB et al.
Plos One, 2011
Interaction and localization of the retinitis pigmentosa protein RP2 and NSF in retinal photoreceptor cells.
Holopainen JM et al.
Biochemistry, 2010
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.
Kühnel K et al.
Structure (london, England : 1993), 2006
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa.
Sharon D et al.
American Journal of Human Genetics, 2003
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
Schwahn U et al.
Human Molecular Genetics, 2001
Select a paper to view details