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Centrosomal protein 290kDa

CEP290, NPHP6
This gene encodes a protein with 13 putative coiled-coil domains, a region with homology to SMC chromosome segregation ATPases, six KID motifs, three tropomyosin homology domains and an ATP/GTP binding site motif A. The protein is localized to the centrosome and cilia and has sites for N-glycosylation, tyrosine sulfation, phosphorylation, N-myristoylation, and amidation. Mutations in this gene have been associated with Joubert syndrome and nephronophthisis and the presence of antibodies against this protein is associated with several forms of cancer. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: LCa, CAN, NPHP1, FANTOM, HAD
Papers using CEP290 antibodies
Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes
Supplier
Rozet Jean-Michel et al., In Molecular Therapy. Nucleic Acids, 2001
... Tween-20/5% dry milk powder and incubated overnight at 4 °C under agitation with polyclonal rabbit anti-human CEP290 (Novus Biologicals, Littletown, CO) or monoclonal ...
Papers on CEP290
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark.
New
Cremers et al., Nijmegen, Netherlands. In Eur J Hum Genet, Jan 2016
Currently, 21 genes are known to be associated with LCA and recurrent mutations have been observed in AIPL1, CEP290, CRB1 and GUCY2D.
Targeted multi-gene panel testing for the diagnosis of Bardet Biedl syndrome: Identification of nine novel mutations across BBS1, BBS2, BBS4, BBS7, BBS9, BBS10 genes.
New
Ozkinay et al., İzmir, Turkey. In Eur J Med Genet, Dec 2015
In this study, 15 patients with clinically diagnosed BBS were investigated using a next generation sequencing panel which included 17 known BBS causing genes (BBS1, BBS2, ARL6, BBS4, BBS5, MKKS, BBS7, TTC8, BBS9, BBS10, TRIM32, BBS12, MKS1, NPHP6, WDPCP, SDCCAG8, NPHP1).
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients.
New
Stone et al., Chicago, United States. In Invest Ophthalmol Vis Sci, Dec 2015
PURPOSE: To investigate visual function in patients with CEP290 Leber congenital amaurosis (LCA-CEP290), using three full-field tests that can be performed by patients with poor fixation.
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndrome.
New
Giles et al., In J Clin Invest, Sep 2015
Juvenile ciliopathy syndromes that are associated with renal cysts and premature renal failure are commonly the result of mutations in the gene encoding centrosomal protein CEP290.
Intravitreal Injection of Splice-switching Oligonucleotides to Manipulate Splicing in Retinal Cells.
Rozet et al., Paris, France. In Mol Ther Nucleic Acids, 2014
Here, we present data in the wild-type mouse, which demonstrate that intravitreal administration of 2'-OMePS-SSO allows selective alteration of Cep290 splicing in retinal cells, including photoreceptors as shown by successful alteration of Abca4 splicing using the same approach.
Superresolution Pattern Recognition Reveals the Architectural Map of the Ciliary Transition Zone.
Liao et al., Taipei, Taiwan. In Sci Rep, 2014
CEP290 is surprisingly localized at a different axial level bridging the basal body (BB) and other TZ proteins.
CEP290 and the primary cilium.
Review
Bennett et al., Philadelphia, United States. In Adv Exp Med Biol, 2013
The protein CEP290 has recently emerged as a major player in the biology of the cilium and as a causative protein in a number of human syndromic diseases, most of which are associated with the devastating blinding disease Leber congenital amaurosis.
A Review of Secondary Photoreceptor Degenerations in Systemic Disease.
Review
Koenekoop et al., Montréal, Canada. In Cold Spring Harb Perspect Med, 2013
Examples are RPGR, CEP290, CLN3, MFSD5, and HK1 mutations that cause a wide variety of primary retinal degenerations with intact systems.
CEP proteins: the knights of centrosome dynasty.
Review
Purohit et al., Vellore, India. In Protoplasma, 2013
Moreover, CEP27, CEP55, CEP70, CEP110, CEP120, CEP135, CEP192, CEP250, CEP290, and CEP350 also seem promising for future drug discovery approaches.
[Joubert syndrome and related disorders].
Review
Jamroz et al., Katowice, Poland. In Neurol Neurochir Pol, 2012
The identification of seven causal genes (NPHP1, AHI1, CEP290, RPGRIP1L, TMEM67/MKS3, ARL13B, CC2D2A) has led to substantial progress in the understanding of the genetic basis of Joubert syndrome.
Ciliary transition zone (TZ) proteins RPGR and CEP290: role in photoreceptor cilia and degenerative diseases.
Review
Khanna et al., Worcester, United States. In Expert Opin Ther Targets, 2012
AREAS COVERED: In this review, we will discuss the identification and function of two ciliary TZ proteins, RPGR (retinitis pigmentosa GTPase regulator) and CEP290.
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis.
GeneRIF
Swaroop et al., Bethesda, United States. In J Clin Invest, 2012
Combinations of Cep290rd16 & Mkksko alleles improved ciliogenesis & sensory functions vs either mutant alone. Altered association of CEP290 & MKKS affects multiprotein complex integrity at the cilia transition zone & basal body.
Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290.
GeneRIF
van den Born et al., Rotterdam, Netherlands. In Mol Vis, 2011
Eight patients (from five families) carried the c.2991+1655A>G mutation homozygously. Nine solitary patients carried this variant combined with a nonsense, frameshift, or splice site mutation on the second allele. A new nonsense mutation: c.1078C>T.
Accumulation of the Raf-1 kinase inhibitory protein (Rkip) is associated with Cep290-mediated photoreceptor degeneration in ciliopathies.
GeneRIF
Khanna et al., Ann Arbor, United States. In J Biol Chem, 2011
Rkip prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration.
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
GeneRIF
Slusarski et al., Iowa City, United States. In Hum Mol Genet, 2011
the N-terminal region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for Lebers disease patients with mutations in CEP290
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
GeneRIF
Swaroop et al., Philadelphia, United States. In Hum Mol Genet, 2011
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy.
Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Impact
GeneRIF
Katsanis et al., Baltimore, United States. In Nat Genet, 2008
Mutations in CEP290 is associated with Bardet-Biedl syndrome
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Impact
Saunier et al., Paris, France. In Nat Genet, 2007
In addition, we show that RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy).
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
Impact
GeneRIF
Hildebrandt et al., Ann Arbor, United States. In Nat Genet, 2006
CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation
Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Impact
GeneRIF
Gleeson et al., Roma, Italy. In Nat Genet, 2006
identified mutations in the CEP290 gene in five families with variable neurological, retinal and renal manifestations
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