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Results: 1 to 20 of 112

1.

RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.

Murga-Zamalloa CA, Swaroop A, Khanna H.

J Genet. 2009 Dec;88(4):399-407. Review.

PMID:
20090203
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Selective loss of RPGRIP1-dependent ciliary targeting of NPHP4, RPGR and SDCCAG8 underlies the degeneration of photoreceptor neurons.

Patil H, Tserentsoodol N, Saha A, Hao Y, Webb M, Ferreira PA.

Cell Death Dis. 2012 Jul 19;3:e355. doi: 10.1038/cddis.2012.96.

PMID:
22825473
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

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.

PMID:
20238008
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Human retinopathy-associated ciliary protein retinitis pigmentosa GTPase regulator mediates cilia-dependent vertebrate development.

Ghosh AK, Murga-Zamalloa CA, Chan L, Hitchcock PF, Swaroop A, Khanna H.

Hum Mol Genet. 2010 Jan 1;19(1):90-8. doi: 10.1093/hmg/ddp469. Epub .

PMID:
19815619
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Interaction of retinitis pigmentosa GTPase regulator (RPGR) with RAB8A GTPase: implications for cilia dysfunction and photoreceptor degeneration.

Murga-Zamalloa CA, Atkins SJ, Peranen J, Swaroop A, Khanna H.

Hum Mol Genet. 2010 Sep 15;19(18):3591-8. doi: 10.1093/hmg/ddq275. Epub 2010 Jul 14.

PMID:
20631154
[PubMed - indexed for MEDLINE]
Free PMC Article
6.

Interaction of ciliary disease protein retinitis pigmentosa GTPase regulator with nephronophthisis-associated proteins in mammalian retinas.

Murga-Zamalloa CA, Desai NJ, Hildebrandt F, Khanna H.

Mol Vis. 2010 Jul 17;16:1373-81.

PMID:
20664800
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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. Epub 2012 Jul 26. Review.

PMID:
22843501
[PubMed - indexed for MEDLINE]
Free Article
8.

Misexpression of the constitutive Rpgr(ex1-19) variant leads to severe photoreceptor degeneration.

Wright RN, Hong DH, Perkins B.

Invest Ophthalmol Vis Sci. 2011 Jul 15;52(8):5189-201. doi: 10.1167/iovs.11-7470.

PMID:
21546531
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Retinitis pigmentosa GTPase regulator (RPGRr)-interacting protein is stably associated with the photoreceptor ciliary axoneme and anchors RPGR to the connecting cilium.

Hong DH, Yue G, Adamian M, Li T.

J Biol Chem. 2001 Apr 13;276(15):12091-9. Epub 2000 Dec 4.

PMID:
11104772
[PubMed - indexed for MEDLINE]
Free Article
10.

The retinal ciliopathies.

Adams NA, Awadein A, Toma HS.

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

PMID:
17896309
[PubMed - indexed for MEDLINE]
11.

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C, Parapuram SK, Cheng H, Scott A, Hurd RE, Sayer JA, Otto EA, Attanasio M, O'Toole JF, Jin G, Shou C, Hildebrandt F, Williams DS, Heckenlively JR, Swaroop A.

Hum Mol Genet. 2006 Jun 1;15(11):1847-57. Epub 2006 Apr 21.

PMID:
16632484
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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

Koenekoop RK.

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

PMID:
16352478
[PubMed - indexed for MEDLINE]
13.

RpgrORF15 connects to the usher protein network through direct interactions with multiple whirlin isoforms.

Wright RN, Hong DH, Perkins B.

Invest Ophthalmol Vis Sci. 2012 Mar 21;53(3):1519-29. doi: 10.1167/iovs.11-8845. Print 2012 Mar.

PMID:
22323458
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Gene replacement therapy rescues photoreceptor degeneration in a murine model of Leber congenital amaurosis lacking RPGRIP.

Pawlyk BS, Smith AJ, Buch PK, Adamian M, Hong DH, Sandberg MA, Ali RR, Li T.

Invest Ophthalmol Vis Sci. 2005 Sep;46(9):3039-45.

PMID:
16123399
[PubMed - indexed for MEDLINE]
Free Article
15.

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. Epub 2008 Jun 1. Review.

PMID:
18632300
[PubMed - indexed for MEDLINE]
16.

Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.

Otto EA, Loeys B, Khanna H, Hellemans J, Sudbrak R, Fan S, Muerb U, O'Toole JF, Helou J, Attanasio M, Utsch B, Sayer JA, Lillo C, Jimeno D, Coucke P, De Paepe A, Reinhardt R, Klages S, Tsuda M, Kawakami I, Kusakabe T, Omran H, Imm A, Tippens M, Raymond PA, Hill J, Beales P, He S, Kispert A, Margolis B, Williams DS, Swaroop A, Hildebrandt F.

Nat Genet. 2005 Mar;37(3):282-8. Epub 2005 Feb 20.

PMID:
15723066
[PubMed - indexed for MEDLINE]
17.

Protein networks and complexes in photoreceptor cilia.

Roepman R, Wolfrum U.

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

PMID:
17953396
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
20238021
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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. Epub 2012 May 7. Review.

PMID:
22563985
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Replacement gene therapy with a human RPGRIP1 sequence slows photoreceptor degeneration in a murine model of Leber congenital amaurosis.

Pawlyk BS, Bulgakov OV, Liu X, Xu X, Adamian M, Sun X, Khani SC, Berson EL, Sandberg MA, Li T.

Hum Gene Ther. 2010 Aug;21(8):993-1004. doi: 10.1089/hum.2009.218.

PMID:
20384479
[PubMed - indexed for MEDLINE]
Free PMC Article

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