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Items: 1 to 20 of 111

1.

CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.

Kim J, Krishnaswami SR, Gleeson JG.

Hum Mol Genet. 2008 Dec 1;17(23):3796-805. doi: 10.1093/hmg/ddn277. Epub 2008 Sep 4.

2.

Centriolar satellites are assembly points for proteins implicated in human ciliopathies, including oral-facial-digital syndrome 1.

Lopes CA, Prosser SL, Romio L, Hirst RA, O'Callaghan C, Woolf AS, Fry AM.

J Cell Sci. 2011 Feb 15;124(Pt 4):600-12. doi: 10.1242/jcs.077156. Epub 2011 Jan 25.

3.

BBS mutations modify phenotypic expression of CEP290-related ciliopathies.

Zhang Y, Seo S, Bhattarai S, Bugge K, Searby CC, Zhang Q, Drack AV, Stone EM, Sheffield VC.

Hum Mol Genet. 2014 Jan 1;23(1):40-51. doi: 10.1093/hmg/ddt394. Epub 2013 Aug 13.

4.

The centriolar satellite proteins Cep72 and Cep290 interact and are required for recruitment of BBS proteins to the cilium.

Stowe TR, Wilkinson CJ, Iqbal A, Stearns T.

Mol Biol Cell. 2012 Sep;23(17):3322-35. doi: 10.1091/mbc.E12-02-0134. Epub 2012 Jul 5.

5.

The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone.

Klinger M, Wang W, Kuhns S, Bärenz F, Dräger-Meurer S, Pereira G, Gruss OJ.

Mol Biol Cell. 2014 Feb;25(4):495-507. doi: 10.1091/mbc.E13-09-0526. Epub 2013 Dec 19.

6.

The centriolar satellite protein CCDC66 interacts with CEP290 and functions in cilium formation and trafficking.

Conkar D, Culfa E, Odabasi E, Rauniyar N, Yates JR 3rd, Firat-Karalar EN.

J Cell Sci. 2017 Apr 15;130(8):1450-1462. doi: 10.1242/jcs.196832. Epub 2017 Feb 24.

PMID:
28235840
7.

CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.

Tsang WY, Bossard C, Khanna H, Peränen J, Swaroop A, Malhotra V, Dynlacht BD.

Dev Cell. 2008 Aug;15(2):187-97. doi: 10.1016/j.devcel.2008.07.004.

8.

The CP110-interacting proteins Talpid3 and Cep290 play overlapping and distinct roles in cilia assembly.

Kobayashi T, Kim S, Lin YC, Inoue T, Dynlacht BD.

J Cell Biol. 2014 Jan 20;204(2):215-29. doi: 10.1083/jcb.201304153. Epub 2014 Jan 13.

9.

A core complex of BBS proteins cooperates with the GTPase Rab8 to promote ciliary membrane biogenesis.

Nachury MV, Loktev AV, Zhang Q, Westlake CJ, Peränen J, Merdes A, Slusarski DC, Scheller RH, Bazan JF, Sheffield VC, Jackson PK.

Cell. 2007 Jun 15;129(6):1201-13.

10.

The centriolar satellite protein AZI1 interacts with BBS4 and regulates ciliary trafficking of the BBSome.

Chamling X, Seo S, Searby CC, Kim G, Slusarski DC, Sheffield VC.

PLoS Genet. 2014 Feb 13;10(2):e1004083. doi: 10.1371/journal.pgen.1004083. eCollection 2014 Feb.

11.

Ccdc13 is a novel human centriolar satellite protein required for ciliogenesis and genome stability.

Staples CJ, Myers KN, Beveridge RD, Patil AA, Howard AE, Barone G, Lee AJ, Swanton C, Howell M, Maslen S, Skehel JM, Boulton SJ, Collis SJ.

J Cell Sci. 2014 Jul 1;127(Pt 13):2910-9. doi: 10.1242/jcs.147785. Epub 2014 May 9.

12.

A new cellular stress response that triggers centriolar satellite reorganization and ciliogenesis.

Villumsen BH, Danielsen JR, Povlsen L, Sylvestersen KB, Merdes A, Beli P, Yang YG, Choudhary C, Nielsen ML, Mailand N, Bekker-Jensen S.

EMBO J. 2013 Nov 27;32(23):3029-40. doi: 10.1038/emboj.2013.223. Epub 2013 Oct 11.

13.

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.

Barbelanne M, Song J, Ahmadzai M, Tsang WY.

Hum Mol Genet. 2013 Jun 15;22(12):2482-94. doi: 10.1093/hmg/ddt100. Epub 2013 Feb 27.

14.

Centriolar satellites: molecular characterization, ATP-dependent movement toward centrioles and possible involvement in ciliogenesis.

Kubo A, Sasaki H, Yuba-Kubo A, Tsukita S, Shiina N.

J Cell Biol. 1999 Nov 29;147(5):969-80. Erratum in: J Cell Biol 1999 Dec 27;147(7):1585.

15.

DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.

Slaats GG, Saldivar JC, Bacal J, Zeman MK, Kile AC, Hynes AM, Srivastava S, Nazmutdinova J, den Ouden K, Zagers MS, Foletto V, Verhaar MC, Miles C, Sayer JA, Cimprich KA, Giles RH.

J Clin Invest. 2015 Sep;125(9):3657-66. doi: 10.1172/JCI80657. Epub 2015 Aug 24.

16.

Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.

Murga-Zamalloa CA, Ghosh AK, Patil SB, Reed NA, Chan LS, Davuluri S, Peränen J, Hurd TW, Rachel RA, Khanna H.

J Biol Chem. 2011 Aug 12;286(32):28276-86. doi: 10.1074/jbc.M111.237560. Epub 2011 Jun 17.

17.

FOP is a centriolar satellite protein involved in ciliogenesis.

Lee JY, Stearns T.

PLoS One. 2013;8(3):e58589. doi: 10.1371/journal.pone.0058589. Epub 2013 Mar 12.

18.

A non-canonical function of Plk4 in centriolar satellite integrity and ciliogenesis through PCM1 phosphorylation.

Hori A, Barnouin K, Snijders AP, Toda T.

EMBO Rep. 2016 Mar;17(3):326-37. doi: 10.15252/embr.201541432. Epub 2016 Jan 11.

19.

Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration.

Drivas TG, Holzbaur EL, Bennett J.

J Clin Invest. 2013 Oct;123(10):4525-39. doi: 10.1172/JCI69448. Epub 2013 Sep 24.

20.

CEP290, a gene with many faces: mutation overview and presentation of CEP290base.

Coppieters F, Lefever S, Leroy BP, De Baere E.

Hum Mutat. 2010 Oct;31(10):1097-108. doi: 10.1002/humu.21337. Review.

PMID:
20690115

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