Associated Papers
Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.
Fasham J et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022
Characterization of a novel RP2-OSTF1 interaction and its implication for actin remodelling.
Lyraki R et al.
Journal of Cell Science, 2018
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
The X-linked retinitis pigmentosa protein RP2 facilitates G protein traffic.
Schwarz N et al.
Human Molecular Genetics, 2012
Localization of retinitis pigmentosa 2 to cilia is regulated by Importin beta2.
Hurd TW et al.
Journal of Cell Science, 2011
The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development.
Hurd T et al.
Human Molecular Genetics, 2010
RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.
Jayasundera T et al.
Archives of Ophthalmology (chicago, Ill. : 1960), 2010
Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane.
Chapple JP et al.
Human Molecular Genetics, 2000
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