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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.


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.


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.


Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.

Rachel RA, May-Simera HL, Veleri S, Gotoh N, Choi BY, Murga-Zamalloa C, McIntyre JC, Marek J, Lopez I, Hackett AN, Zhang J, Brooks M, den Hollander AI, Beales PL, Li T, Jacobson SG, Sood R, Martens JR, Liu P, Friedman TB, Khanna H, Koenekoop RK, Kelley MW, Swaroop A.

J Clin Invest. 2012 Apr;122(4):1233-45. doi: 10.1172/JCI60981. Epub 2012 Mar 26. Erratum in: J Clin Invest. 2012 Aug 1;122(8):3025. Zhang, Jun [added].


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.


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.


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.


Nephrocystin proteins NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery.

Barbelanne M, Hossain D, Chan DP, Peränen J, Tsang WY.

Hum Mol Genet. 2015 Apr 15;24(8):2185-200. doi: 10.1093/hmg/ddu738. Epub 2014 Dec 30.


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.


Ectopic expression of human BBS4 can rescue Bardet-Biedl syndrome phenotypes in Bbs4 null mice.

Chamling X, Seo S, Bugge K, Searby C, Guo DF, Drack AV, Rahmouni K, Sheffield VC.

PLoS One. 2013;8(3):e59101. doi: 10.1371/journal.pone.0059101. Epub 2013 Mar 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.


Hypomorphic CEP290/NPHP6 mutations result in anosmia caused by the selective loss of G proteins in cilia of olfactory sensory neurons.

McEwen DP, Koenekoop RK, Khanna H, Jenkins PM, Lopez I, Swaroop A, Martens JR.

Proc Natl Acad Sci U S A. 2007 Oct 2;104(40):15917-22. Epub 2007 Sep 26.


The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.

Baye LM, Patrinostro X, Swaminathan S, Beck JS, Zhang Y, Stone EM, Sheffield VC, Slusarski DC.

Hum Mol Genet. 2011 Apr 15;20(8):1467-77. doi: 10.1093/hmg/ddr025. Epub 2011 Jan 21.


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.


Bardet-Biedl syndrome type 4 (BBS4)-null mice implicate Bbs4 in flagella formation but not global cilia assembly.

Mykytyn K, Mullins RF, Andrews M, Chiang AP, Swiderski RE, Yang B, Braun T, Casavant T, Stone EM, Sheffield VC.

Proc Natl Acad Sci U S A. 2004 Jun 8;101(23):8664-9. Epub 2004 Jun 1.


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.


Loss of Raf-1 kinase inhibitory protein delays early-onset severe retinal ciliopathy in Cep290rd16 mouse.

Subramanian B, Anand M, Khan NW, Khanna H.

Invest Ophthalmol Vis Sci. 2014 Aug 14;55(9):5788-94. doi: 10.1167/iovs.14-14954.


Bardet-Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Su X, Driscoll K, Yao G, Raed A, Wu M, Beales PL, Zhou J.

Hum Mol Genet. 2014 Oct 15;23(20):5441-51. doi: 10.1093/hmg/ddu267. Epub 2014 Jun 16.


Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.

Frank V, den Hollander AI, Brüchle NO, Zonneveld MN, Nürnberg G, Becker C, Du Bois G, Kendziorra H, Roosing S, Senderek J, Nürnberg P, Cremers FP, Zerres K, Bergmann C.

Hum Mutat. 2008 Jan;29(1):45-52.


Intrinsic protein-protein interaction-mediated and chaperonin-assisted sequential assembly of stable bardet-biedl syndrome protein complex, the BBSome.

Zhang Q, Yu D, Seo S, Stone EM, Sheffield VC.

J Biol Chem. 2012 Jun 8;287(24):20625-35. doi: 10.1074/jbc.M112.341487. Epub 2012 Apr 12.

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