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Items: 1 to 20 of 31

1.
2.

Multiprotein complexes of Retinitis Pigmentosa GTPase regulator (RPGR), a ciliary protein mutated in X-linked Retinitis Pigmentosa (XLRP).

Murga-Zamalloa C, Swaroop A, Khanna H.

Adv Exp Med Biol. 2010;664:105-14. doi: 10.1007/978-1-4419-1399-9_13. Review.

3.

Non-syndromic retinal ciliopathies: translating gene discovery into therapy.

Estrada-Cuzcano A, Roepman R, Cremers FP, den Hollander AI, Mans DA.

Hum Mol Genet. 2012 Oct 15;21(R1):R111-24. Review.

PMID:
22843501
4.

The retinal ciliopathies.

Adams NA, Awadein A, Toma HS.

Ophthalmic Genet. 2007 Sep;28(3):113-25. Review.

PMID:
17896309
5.

RPGRIP1 is mutated in Leber congenital amaurosis: a mini-review.

Koenekoop RK.

Ophthalmic Genet. 2005 Dec;26(4):175-9. Review.

PMID:
16352478
6.

Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.

Anand M, Khanna H.

Expert Opin Ther Targets. 2012 Jun;16(6):541-51. doi: 10.1517/14728222.2012.680956. Review.

7.

Leber congenital amaurosis: genes, proteins and disease mechanisms.

den Hollander AI, Roepman R, Koenekoop RK, Cremers FP.

Prog Retin Eye Res. 2008 Jul;27(4):391-419. doi: 10.1016/j.preteyeres.2008.05.003. Review.

PMID:
18632300
8.

RPGR: Its role in photoreceptor physiology, human disease, and future therapies.

Megaw RD, Soares DC, Wright AF.

Exp Eye Res. 2015 Sep;138:32-41. doi: 10.1016/j.exer.2015.06.007. Review.

9.

Photoreceptor sensory cilia and inherited retinal degeneration.

Liu Q, Zhang Q, Pierce EA.

Adv Exp Med Biol. 2010;664:223-32. doi: 10.1007/978-1-4419-1399-9_26. Review.

10.

Protein networks and complexes in photoreceptor cilia.

Roepman R, Wolfrum U.

Subcell Biochem. 2007;43:209-35. Review.

PMID:
17953396
11.
12.

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R, Wright AF.

Hum Mutat. 2002 May;19(5):486-500. Review.

PMID:
11968081
13.

Leber congenital amaurosis caused by mutations in RPGRIP1.

Li T.

Cold Spring Harb Perspect Med. 2014 Nov 20;5(4). pii: a017384. doi: 10.1101/cshperspect.a017384. Review.

PMID:
25414380
14.

RPGR: role in the photoreceptor cilium, human retinal disease, and gene therapy.

Hosch J, Lorenz B, Stieger K.

Ophthalmic Genet. 2011 Mar;32(1):1-11. doi: 10.3109/13816810.2010.535889. Review.

PMID:
21174525
15.

The Role of RPGR and Its Interacting Proteins in Ciliopathies.

Patnaik SR, Raghupathy RK, Zhang X, Mansfield D, Shu X.

J Ophthalmol. 2015;2015:414781. doi: 10.1155/2015/414781. Review.

16.

Senior-L√łken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.

Ronquillo CC, Bernstein PS, Baehr W.

Vision Res. 2012 Dec 15;75:88-97. doi: 10.1016/j.visres.2012.07.003. Review.

17.

Disease mechanisms of X-linked retinitis pigmentosa due to RP2 and RPGR mutations.

Lyraki R, Megaw R, Hurd T.

Biochem Soc Trans. 2016 Oct 15;44(5):1235-1244. Review.

PMID:
27911705
18.

Molecular complexes that direct rhodopsin transport to primary cilia.

Wang J, Deretic D.

Prog Retin Eye Res. 2014 Jan;38:1-19. doi: 10.1016/j.preteyeres.2013.08.004. Review.

19.

Rhodopsin Trafficking and Mistrafficking: Signals, Molecular Components, and Mechanisms.

Nemet I, Ropelewski P, Imanishi Y.

Prog Mol Biol Transl Sci. 2015;132:39-71. doi: 10.1016/bs.pmbts.2015.02.007. Review.

PMID:
26055054
20.

Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.

Raghupathy RK, McCulloch DL, Akhtar S, Al-mubrad TM, Shu X.

Zebrafish. 2013 Mar;10(1):62-9. doi: 10.1089/zeb.2012.0761. Review.

PMID:
23536988
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