Associated Papers
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.
Georgiou M et al.
Ophthalmology, 2023
36423731 (PubMed )
Supplement: mmc6.pdf
A Natural History Study of RP2-Related Retinopathy.
Cheloni R et al.
Journal of Clinical Medicine, 2022
36498452 (PubMed )
Supplement: jcm-11-06877-s001.zip › jcm-1965832-supplementary.pdf
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
Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.
Shu X et al.
Investigative Ophthalmology & Visual Science, 2011
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.
Miano MG et al.
Human Mutation, 2001
Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.
Schwahn U et al.
Human Molecular Genetics, 2001
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