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Mistrafficking of prenylated proteins causes retinitis pigmentosa 2.
Zhang H, Hanke-Gogokhia C, Jiang L, Li X, Wang P, Gerstner CD, Frederick JM, Yang Z, Baehr W. Zhang H, et al. FASEB J. 2015 Mar;29(3):932-42. doi: 10.1096/fj.14-257915. Epub 2014 Nov 24. FASEB J. 2015. PMID: 25422369 Free PMC article.
Mutations in the human RP2 gene cause X-linked retinitis pigmentosa (XLRP) and cone-rod dystrophy (XL-CORD). ...Prenylated PDE6 subunits and G-protein coupled receptor kinase 1 (GRK1) were unable to traffic effectively to the Rp2h(-/-) outer segments. Mechanistically, abse …
Mutations in the human RP2 gene cause X-linked retinitis pigmentosa (XLRP) and cone-rod dystrophy (XL-CORD). ...Prenylated PDE6 subun …
Membrane protein transport in photoreceptors: the function of PDEδ: the Proctor lecture.
Baehr W. Baehr W. Invest Ophthalmol Vis Sci. 2014 Dec 30;55(12):8653-66. doi: 10.1167/iovs.14-16066. Invest Ophthalmol Vis Sci. 2014. PMID: 25550383 Free PMC article.
The lifetime of ARL3(GTP) is controlled by its GTPase-activating protein, retinitis pigmentosa protein 2 (RP2), which accelerates GTPase activity up to 90,000-fold. RP2 null alleles in human patients are associated with severe X-linked retinitis pigmentosa (XLRP). G …
The lifetime of ARL3(GTP) is controlled by its GTPase-activating protein, retinitis pigmentosa protein 2 (RP2), which accelerates GTP …
Specificity of Arl2/Arl3 signaling is mediated by a ternary Arl3-effector-GAP complex.
Veltel S, Kravchenko A, Ismail S, Wittinghofer A. Veltel S, et al. FEBS Lett. 2008 Jul 23;582(17):2501-7. doi: 10.1016/j.febslet.2008.05.053. Epub 2008 Jun 25. FEBS Lett. 2008. PMID: 18588884 Free article.
Arl2 and Arl3, members of the Arf subfamily of small G proteins, are believed to be involved in ciliary and microtubule-dependent processes. Recently, we could identify RP2, responsible for a variant of X-linked retinitis pigmentosa, as the Arl3-specific GAP. ...We show th …
Arl2 and Arl3, members of the Arf subfamily of small G proteins, are believed to be involved in ciliary and microtubule-dependent processes. …