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CEP104/FAP256 and associated cap complex maintain stability of the ciliary tip.
Legal T, Parra M, Tong M, Black CS, Joachimiak E, Valente-Paterno M, Lechtreck K, Gaertig J, Bui KH. Legal T, et al. J Cell Biol. 2023 Nov 6;222(11):e202301129. doi: 10.1083/jcb.202301129. Epub 2023 Sep 26. J Cell Biol. 2023. PMID: 37756660 Free PMC article.
In the tip region, the central pair lacks typical projections and twists significantly. By analyzing cells lacking a ciliary tip-enriched protein CEP104/FAP256 by cryo-electron tomography and proteomics, we discovered candidates for the central pair cap complex and explain …
In the tip region, the central pair lacks typical projections and twists significantly. By analyzing cells lacking a ciliary tip-enriched pr …
Joubert Syndrome.
Parisi M, Glass I. Parisi M, et al. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 9 [updated 2017 Jun 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301500 Free Books & Documents. Review.
Cep104 is a component of the centriole distal tip complex that regulates centriole growth and contributes to Drosophila spermiogenesis.
Ryniawec JM, Hannaford MR, Zibrat ME, Fagerstrom CJ, Galletta BJ, Aguirre SE, Guice BA, Dean SM, Rusan NM, Rogers GC. Ryniawec JM, et al. Curr Biol. 2023 Oct 9;33(19):4202-4216.e9. doi: 10.1016/j.cub.2023.08.075. Epub 2023 Sep 19. Curr Biol. 2023. PMID: 37729913
We found that Cep104 regulates centriole growth and promotes centriole elongation through its microtubule-binding TOG domain. Furthermore, analysis of Cep104 null flies revealed that Cep104 and Cep97 cooperate during spermiogenesis to align spermatids and coo …
We found that Cep104 regulates centriole growth and promotes centriole elongation through its microtubule-binding TOG domain. Further …
CEP104 gene may involve in the pathogenesis of a new developmental disorder other than joubert syndrome.
Badv RS, Mahdiannasser M, Rasoulinezhad M, Habibi L, Rashidi-Nezhad A. Badv RS, et al. Mol Biol Rep. 2022 Aug;49(8):7231-7237. doi: 10.1007/s11033-022-07353-w. Epub 2022 Mar 31. Mol Biol Rep. 2022. PMID: 35359234
BACKGROUND: The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. ...Therefore, we suggest that the CEP104 gene might also be involved in a disorder other than JBTS 25, a point that deserves to be emer …
BACKGROUND: The CEP104 gene (OMIM: 616,690) encodes the centrosome protein 104 (CEP104) that is involved in cilia function. .. …
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling.
Frikstad KM, Molinari E, Thoresen M, Ramsbottom SA, Hughes F, Letteboer SJF, Gilani S, Schink KO, Stokke T, Geimer S, Pedersen LB, Giles RH, Akhmanova A, Roepman R, Sayer JA, Patzke S. Frikstad KM, et al. Cell Rep. 2019 Aug 13;28(7):1907-1922.e6. doi: 10.1016/j.celrep.2019.07.025. Cell Rep. 2019. PMID: 31412255 Free PMC article.
CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. ...However, CEP104 is not required for the ciliary recruitment of CSPP1, indicating that an intra-ciliary CEP104-CSPP1 complex controls axoneme length and Hedgehog signaling competence …
CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. ...However, CEP104 is not required for the ciliary …
CEP104 and CEP290; Genes with Ciliary Functions Cause Intellectual Disability in Multiple Families.
Khoshbakht S, Beheshtian M, Fattahi Z, Bazazzadegan N, Parsimehr E, Fadaee M, Vazehan R, Faraji Zonooz M, Abolhassani A, Makvand M, Kariminejad A, Celik A, Kahrizi K, Najmabadi H. Khoshbakht S, et al. Arch Iran Med. 2021 May 1;24(5):364-373. doi: 10.34172/aim.2021.53. Arch Iran Med. 2021. PMID: 34196201 Free article.
Lymphoblastoid cell lines (LCLs) derived from the members of affected families were established for two families carrying CEP104 mutations. RNA and protein expression studies were carried out on these cells using qPCR and Western blot, respectively. ...(Cys786Phefs*11) and …
Lymphoblastoid cell lines (LCLs) derived from the members of affected families were established for two families carrying CEP104 muta …
The Ciliopathy-Associated Cep104 Protein Interacts with Tubulin and Nek1 Kinase.
Al-Jassar C, Andreeva A, Barnabas DD, McLaughlin SH, Johnson CM, Yu M, van Breugel M. Al-Jassar C, et al. Structure. 2017 Jan 3;25(1):146-156. doi: 10.1016/j.str.2016.11.014. Epub 2016 Dec 22. Structure. 2017. PMID: 28017521 Free PMC article.
The molecular mechanisms underpinning cilia assembly are incompletely understood. Cep104 is a key factor involved in cilia formation and length regulation that rides on the ends of elongating and shrinking cilia. ...Furthermore, we identify the kinase Nek1, another ciliopa …
The molecular mechanisms underpinning cilia assembly are incompletely understood. Cep104 is a key factor involved in cilia formation …
Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.
Luo M, Cao L, Cao Z, Ma S, Shen Y, Yang D, Lu C, Lin Z, Liu Z, Yu Y, Cai R, Chen C, Gao H, Wang X, Cao M, Ma X. Luo M, et al. Mol Genet Genomic Med. 2019 Dec;7(12):e1004. doi: 10.1002/mgg3.1004. Epub 2019 Oct 18. Mol Genet Genomic Med. 2019. PMID: 31625690 Free PMC article.
RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690). RESULTS: We identified two novel heterozygous mutations of CEP104 in the proband, which were c.2364+1G>A and c.414delC (p.Asn138Lysfs*11) …
RT-PCR and Sanger sequencing were used to confirm the abnormal transcript of centrosomal protein 104 (CEP104, OMIM: 616690). RESULTS: …
Biophysical and Structural Characterization of the Centriolar Protein Cep104 Interaction Network.
Rezabkova L, Kraatz SH, Akhmanova A, Steinmetz MO, Kammerer RA. Rezabkova L, et al. J Biol Chem. 2016 Aug 26;291(35):18496-504. doi: 10.1074/jbc.M116.739771. Epub 2016 Jul 8. J Biol Chem. 2016. PMID: 27402853 Free PMC article.
Knowledge on the interaction networks of ciliary proteins is therefore key for understanding the processes that are underlying these severe diseases and the mechanisms of ciliogenesis in general. Cep104 has recently been identified as a key player in the regulation of cili …
Knowledge on the interaction networks of ciliary proteins is therefore key for understanding the processes that are underlying these severe …
Roles of TOG and jelly-roll domains of centrosomal protein CEP104 in its functions in cilium elongation and Hedgehog signaling.
Yamazoe T, Nagai T, Umeda S, Sugaya Y, Mizuno K. Yamazoe T, et al. J Biol Chem. 2020 Oct 23;295(43):14723-14736. doi: 10.1074/jbc.RA120.013334. Epub 2020 Aug 20. J Biol Chem. 2020. PMID: 32820051 Free PMC article.
Thus, CEP104 has been implicated in ciliogenesis. However, the mechanism by which CEP104 regulates ciliogenesis remains elusive. ...Moreover, CEP104 depletion does not affect CP110 removal from the mother centriole, which suggests that CEP104 functions …
Thus, CEP104 has been implicated in ciliogenesis. However, the mechanism by which CEP104 regulates ciliogenesis remains elusiv …
25 results