Recombinant Human Centrosomal protein of 290 kDa (CEP290), partial

1. Arima syndrome patients had a specific CEP290 homozygous variant or compound heterozygous variants. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. PMID: 29217415
2. Together with a physical interaction between RPGR and the C-terminal domain of CEP290, our data suggest that RPGR and CEP290 genetically interact and highlight the involvement of hypomorphic alleles of genes as potential modifiers of heterogeneous retinal ciliopathies. PMID: 26936822
3. One of the more common molecular subtypes of LCA is caused by mutation in the gene encoding CEP290 (Centrosomal protein 290), which has been localized in the outer retina to the photoreceptor cilium PMID: 28510626
4. our data highlight the tremendous therapeutic prospective of AONs for the treatment of not only CEP290-associated Leber congenital amaurosis (LCA)but potentially many other subtypes of retinal dystrophy caused by splicing mutations PMID: 27106101
5. We identified eight mutated genes in 27 (21 + 6) Japanese families, TMEM67 (7/27, 25.9%) and CEP290 (6/27, 22.2%) were the most commonly mutated. Interestingly, 9 of 12 CEP290 disease alleles were c.6012-12T>A (75.0%), an allele that has not been reported in non-Japanese populations PMID: 27434533
6. We identified four novel CNVs in three different genes (one duplication in USH2A gene, two duplications in CEP290 gene, and one duplication in RIMS2 gene) in total four families, at a detection rate of 8% (4/50). PMID: 28118666
7. Two novel variants were detected: c.2536G>T (p.G846X) in the CRB1 gene and c.4929delA (p.Lys1643fsX2) in the CEP290 gene. PMID: 26165328
8. NPHP5 and Cep290 regulate BBSome integrity, ciliary trafficking and cargo delivery. PMID: 25552655
9. The natural history of early loss of photoreceptor function with retained cone cell nuclei is common to both CEP290-Leber congenital amaurosis patients and the rd16;Nrl-/- murine model. PMID: 24671090
10. results provide a link between CEP290 and DNA replication stress and suggest CDK inhibition as a potential treatment strategy for a wide range of ciliopathy syndromes. PMID: 26301811
11. DDA3 controls astral spindle formation and spindle positioning by targeting Cep290 to the centrosome. Depletion of Cep290 caused a reduction of the astral spindle, leading to misorientation of the mitotic spindle. PMID: 25998387
12. mutation in CEP290 gene in all three affected siblings.This novel 1-bp deletion results in a frameshift mutation leading to a premature stop codon and a truncated protein PMID: 24175892
13. The novel centriolar satellite protein SSX2IP targets Cep290 to the ciliary transition zone. PMID: 24356449
14. Data indicate that genetic interactions between BBSome components and CEP290 could underlie the variable expression and overlapping phenotypes of ciliopathies caused by CEP290 mutations. PMID: 23943788
15. Here we discuss many of these diverse aspects of CEP290 biology and pathology in an attempt to link what we know about the molecular mechanisms of CEP290 function with what we know about CEP290-associated disease. PMID: 24664739
16. Talpid3 and Cep290 play overlapping and distinct roles in ciliary vesicle formation through regulation of centriolar satellite accretion and Rab8a PMID: 24421332
17. NPHP5 mutations impair protein interaction with Cep290 and localize to centrosomes, thereby compromising cilia formation. PMID: 23446637
18. Disruption of particular CEP290 functional domains may lead to particular disease phenotypes. PMID: 24051377
19. Patients with Leber congenital amaurosis (LCA) and CEP290 mutations had a wide spectrum of visual acuity that was not related to age or length of follow-up. PMID: 23411883
20. Rkip prevents cilia formation and is associated with Cep290-mediated photoreceptor degeneration. PMID: 21685394
21. 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. PMID: 22355252
22. 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. PMID: 21245082
23. an overview of all CEP290 mutations identified so far, with their associated phenotypes (Review) PMID: 20690115
24. These data provide the first clear demonstration of respiratory cilia ultrastructural defects in Leber congenital amaurosis patients with CEP290 mutations. PMID: 20805370
25. A novel nonsense mutation in CEP290 results in nonsense-associated altered splicing. PMID: 20130272
26. Variations of macular microstructures were observed among LCA (Leber congenital amaurosis) patients with different genotypes. PMID: 19959640
27. 3H11Ag is a DNA- and nuclear matrix-associated protein PMID: 15474516
28. CEP290 (also known as NPHP6) interacts with and modulates the activity of ATF4, a transcription factor implicated in cAMP-dependent renal cyst formation PMID: 16682973
29. CEP290 mutations represent one of the most frequent causes of Leber congenital amaurosis identified so far. PMID: 16909394
30. Results confirm the high frequency of NPHP6/CEP290 mutations in our series of LCA families hailing worldwide (22%). However, it is shown that conversely to other LCA genes, NPHP6 is involved in families of European descent only (38/38). PMID: 17345604
31. findings of preserved foveal cones and visual brain anatomy in Leber congenital amaurosis with CEP290 mutations, despite blindness and rod cell death, suggest an opportunity for visual restoration of central vision in this form of inherited blindness PMID: 17554762
32. Mutations in the CEP290 gene were identified in cohort with Joubert syndrome-related disorders. PMID: 17564967
33. These data identify the CEP290 gene as responsible for Meckel syndrome. PMID: 17564974
34. NPHP6/CEP290 may have a role in Joubert syndrome and Senior-Loken syndrome PMID: 17617513
35. a novel locus for MKS to a 3-Mb interval on 12q21. Sequencing of the CEP290 gene located in the minimal critical region showed a homozygous 1-bp deletion supposed to lead to loss of function of the encoded centrosomal protein CEP290/nephrocystin-6. PMID: 17705300
36. RPE65 gene mutations represented a significant cause of LCA in the Italian population, whereas GUCY2D and CEP290 mutations had a lower frequency than that found in other reports. PMID: 17724218
37. CEP290 is a key mediator involved in G protein trafficking. The assessment of olfactory function can, therefore, serve as a useful diagnostic tool for genetic screening of certain syndromic ciliary diseases. PMID: 17898177
38. CEP290 c.2991_1655A>G mutation frequency in Spanish non-syndromic Leber congenital amaurosis families is lower than that of other countries. PMID: 18079693
39. Mutations in CEP290 is associated with Bardet-Biedl syndrome PMID: 18327255
40. These results suggest that CEP290 cooperates with Rab8a to promote ciliogenesis and that this function is antagonized by CP110. PMID: 18694559
41. CEP290 binds to PCM-1 and localizes to centriolar satellites in a PCM-1- and microtubule-dependent manner. PMID: 18772192
42. CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal protein CEP290. PMID: 18950740
43. CEP290 mutational spectrum in ciliopathies. PMID: 19764032
44. Findings suggest a critical function for mouse CEP290 in ciliary transport and provide insights into the mechanism of early-onset photoreceptor degeneration. PMID: 16632484

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HGNC: 29021

OMIM: 610142

KEGG: hsa:80184

STRING: 9606.ENSP00000448012

UniGene: Hs.150444