Associated Papers
RP2-associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype-phenotype association.
Fujinami K et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020
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
Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.
Raghupathy RK et al.
Zebrafish, 2013
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
Schwarz N et al.
Human Molecular Genetics, 2012
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
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
The retinitis pigmentosa protein RP2 links pericentriolar vesicle transport between the Golgi and the primary cilium.
Evans RJ et al.
Human Molecular Genetics, 2010
The retinitis pigmentosa-mutated RP2 protein exhibits exonuclease activity and translocates to the nucleus in response to DNA damage.
Yoon JH et al.
Experimental Cell Research, 2006
Crystal structure of the human retinitis pigmentosa 2 protein and its interaction with Arl3.
Kühnel K et al.
Structure (london, England : 1993), 2006
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
A new Leu253Arg mutation in the RP2 gene in a Japanese family with X-linked retinitis pigmentosa.
Wada Y et al.
Investigative Ophthalmology & Visual Science, 2000
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