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Selective impairment of a subset of Ran-GTP-binding domains of ran-binding protein 2 (Ranbp2) suffices to recapitulate the degeneration of the retinal pigment epithelium (RPE) triggered by Ranbp2 ablation.
Patil H, Saha A, Senda E, Cho KI, Haque M, Yu M, Qiu S, Yoon D, Hao Y, Peachey NS, Ferreira PA. Patil H, et al. J Biol Chem. 2014 Oct 24;289(43):29767-89. doi: 10.1074/jbc.M114.586834. Epub 2014 Sep 3. J Biol Chem. 2014. PMID: 25187515 Free PMC article.
Evidence for RPGRIP1 gene as risk factor for primary open angle glaucoma.
Fernández-Martínez L, Letteboer S, Mardin CY, Weisschuh N, Gramer E, Weber BH, Rautenstrauss B, Ferreira PA, Kruse FE, Reis A, Roepman R, Pasutto F. Fernández-Martínez L, et al. Eur J Hum Genet. 2011 Apr;19(4):445-51. doi: 10.1038/ejhg.2010.217. Epub 2011 Jan 12. Eur J Hum Genet. 2011. PMID: 21224891 Free PMC article.