| Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome. | Biallelic variants in CEP164 cause a motile ciliopathy-like syndrome.
Devlin LA, Coles J, Jackson CL, Barroso-Gil M, Green B, Walker WT, Thomas NS, Thompson J, Rock SA, Neatu R, Powell L, Molinari E, Genomics England Research Consortium, Wilson IJ, Cordell HJ, Olinger E, Miles CG, Sayer JA, Wheway G, Lucas JS., Free PMC Article | 02/11/2023 |
| Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies. | Molecular mechanisms underlying the role of the centriolar CEP164-TTBK2 complex in ciliopathies.
Rosa E Silva I, Binó L, Johnson CM, Rutherford TJ, Neuhaus D, Andreeva A, Čajánek L, van Breugel M., Free PMC Article | 03/26/2022 |
| these data support a conserved role for CEP164 throughout the development of numerous organs, which, we suggest, accounts for the multi-system disease phenotype of CEP164-mediated Nephronophthisis-related ciliopathies | Embryonic and foetal expression patterns of the ciliopathy gene CEP164.
Devlin LA, Ramsbottom SA, Overman LM, Lisgo SN, Clowry G, Molinari E, Powell L, Miles CG, Sayer JA., Free PMC Article | 04/4/2020 |
| data suggest that CEP164 is not required in the DNA damage response. | CEP164-null cells generated by genome editing show a ciliation defect with intact DNA repair capacity.
Daly OM, Gaboriau D, Karakaya K, King S, Dantas TJ, Lalor P, Dockery P, Krämer A, Morrison CG. | 08/5/2017 |
| This study reveals a novel role for CEP164 in the pathogenesis of nephronophthisis, in which mutations cause ciliary defects coupled with DNA damage induced replicative stress, cell death, and epithelial-to-mesenchymal transition | Nephronophthisis-associated CEP164 regulates cell cycle progression, apoptosis and epithelial-to-mesenchymal transition.
Slaats GG, Ghosh AK, Falke LL, Le Corre S, Shaltiel IA, van de Hoek G, Klasson TD, Stokman MF, Logister I, Verhaar MC, Goldschmeding R, Nguyen TQ, Drummond IA, Hildebrandt F, Giles RH., Free PMC Article | 07/4/2015 |
| Evidence is provided that TTBK2 effectively phosphorylate Cep164 and Cep97 and inhibits the interaction between Cep164 and its binding partner Dishevelled-3 (an important regulator of ciliogenesis) in a kinase activity-dependent manner. | Binding to Cep164, but not EB1, is essential for centriolar localization of TTBK2 and its function in ciliogenesis.
Oda T, Chiba S, Nagai T, Mizuno K. | 05/30/2015 |
| data suggest that TTBK2 also acts upstream of Cep164, contributing to the assembly of distal appendages | Cep164 triggers ciliogenesis by recruiting Tau tubulin kinase 2 to the mother centriole.
Čajánek L, Nigg EA., Free PMC Article | 09/20/2014 |
| Cep164 is targeted to the apical domain of the mother centriole to provide the molecular link between the mother centriole and the membrane biogenesis machinery that initiates cilia formation. | Cep164 mediates vesicular docking to the mother centriole during early steps of ciliogenesis.
Schmidt KN, Kuhns S, Neuner A, Hub B, Zentgraf H, Pereira G., Free PMC Article | 02/23/2013 |
| findings indicate that ARL13B, INPP5E, PDE6D, and CEP164 form a distinct functional network that is involved in JBTS and NPHP but independent of the ones previously defined by NPHP and MKS proteins | ARL13B, PDE6D, and CEP164 form a functional network for INPP5E ciliary targeting.
Humbert MC, Weihbrecht K, Searby CC, Li Y, Pope RM, Sheffield VC, Seo S., Free PMC Article | 02/23/2013 |
| Study identifies by whole-exome resequencing, mutations of MRE11, ZNF423, and CEP164 as causing Nephronophthisis-related ciliopathies. | Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling.
Chaki M, Airik R, Ghosh AK, Giles RH, Chen R, Slaats GG, Wang H, Hurd TW, Zhou W, Cluckey A, Gee HY, Ramaswami G, Hong CJ, Hamilton BA, Cervenka I, Ganji RS, Bryja V, Arts HH, van Reeuwijk J, Oud MM, Letteboer SJ, Roepman R, Husson H, Ibraghimov-Beskrovnaya O, Yasunaga T, Walz G, Eley L, Sayer JA, Schermer B, Liebau MC, Benzing T, Le Corre S, Drummond I, Janssen S, Allen SJ, Natarajan S, O'Toole JF, Attanasio M, Saunier S, Antignac C, Koenekoop RK, Ren H, Lopez I, Nayir A, Stoetzel C, Dollfus H, Massoudi R, Gleeson JG, Andreoli SP, Doherty DG, Lindstrad A, Golzio C, Katsanis N, Pape L, Abboud EB, Al-Rajhi AA, Lewis RA, Omran H, Lee EY, Wang S, Sekiguchi JM, Saunders R, Johnson CA, Garner E, Vanselow K, Andersen JS, Shlomai J, Nurnberg G, Nurnberg P, Levy S, Smogorzewska A, Otto EA, Hildebrandt F., Free PMC Article | 10/20/2012 |
| Single nucleotide polymorphisms of CCND2, RAD23B, GRP78, CEP164, MDM2, and ALDH2 genes were significantly associated with development and recurrence of hepatocellular carcinoma in Japanese patients with hepatitis C virus. | Genetic risk of hepatocellular carcinoma in patients with hepatitis C virus: a case control study.
Tomoda T, Nouso K, Sakai A, Ouchida M, Kobayashi S, Miyahara K, Onishi H, Nakamura S, Yamamoto K, Shimizu K. | 08/11/2012 |
| Results show that Cep164 knockdown compromises the cell survival upon UV damage, and that UV irradiation significantly enhances the interaction between Cep164 and XPA. | UV-dependent interaction between Cep164 and XPA mediates localization of Cep164 at sites of DNA damage and UV sensitivity.
Pan YR, Lee EY. | 01/21/2010 |
| Cep164 is a key player in the DNA damage-activated signaling cascade. | Cep164 is a mediator protein required for the maintenance of genomic stability through modulation of MDC1, RPA, and CHK1.
Sivasubramaniam S, Sun X, Pan YR, Wang S, Lee EY., Free PMC Article | 01/21/2010 |
| These data implicate distal appendages in primary cilia formation and identify Cep164 as an excellent marker for these structures. | Cep164, a novel centriole appendage protein required for primary cilium formation.
Graser S, Stierhof YD, Lavoie SB, Gassner OS, Lamla S, Le Clech M, Nigg EA., Free PMC Article | 01/21/2010 |