The DOI matches its Crossref record; 77 of the 77 references it cites were found in a registry or an index.
CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content
Open accessAbstract
Mutations in human CEP290 cause cilia-related disorders that range in severity from isolated blindness to perinatal lethality. Here, we describe a Chlamydomonas reinhardtii mutant in which most of the CEP290 gene is deleted. Immunoelectron microscopy indicated that CEP290 is located in the flagellar transition zone in close association with the prominent microtubule–membrane links there. Ultrastructural analysis revealed defects in these microtubule–membrane connectors, resulting in loss of attachment of the flagellar membrane to the transition zone microtubules. Biochemical analysis of isolated flagella revealed that the mutant flagella have abnormal protein content, including abnormal levels of intraflagellar transport proteins and proteins associated with ciliopathies. Experiments with dikaryons showed that CEP290 at the transition zone is dynamic and undergoes rapid turnover. The results indicate that CEP290 is required to form microtubule–membrane linkers that tether the flagellar membrane to the transition zone microtubules, and is essential for controlling flagellar protein composition.
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Cites
Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
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Effect of gene therapy on visual function in Leber’s congenital amaurosis
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Cited by
Genes and molecular pathways underpinning ciliopathies
Reiter, J. F., & Leroux, M. R. (2017) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm.2017.60 · Cited by 1,588
Ciliogenesis: building the cell's antenna
Ishikawa, H., & Marshall, W. F. (2011) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3085 · Cited by 961
Proteomics of Primary Cilia by Proximity Labeling
Mick, D. U., Rodrigues, R. B., Leib, R. D., Adams, C. M., Chien, A. S., Gygi, S. P., & Nachury, M. V. (2015) · Developmental Cell · doi:10.1016/j.devcel.2015.10.015 · Cited by 409
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Nachury, M. V., & Mick, D. U. (2019) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-019-0116-4 · Cited by 397
IFT–Cargo Interactions and Protein Transport in Cilia
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Metadata
- Authors
- Craige, B., Tsao, C.-C., Diener, D. R., Hou, Y., Lechtreck, K.-F., Rosenbaum, J. L., & Witman, G. B.
- Venue
- Journal of Cell Biology
- Publisher
- Rockefeller University Press
- Published
- 2010-09-06
- Volume
- 190
- Issue
- 5
- Pages
- 927-940
- ISSN
- 0021-9525 (ISSN-L)
- 1540-8140
- OpenAlex
- W2129394277
- Cited by
- 386
- References
- 77
- FWCI
- 19.95
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Craige, B., Tsao, C.-C., Diener, D. R., Hou, Y., Lechtreck, K.-F., Rosenbaum, J. L., & Witman, G. B. (2010). CEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content. Journal of Cell Biology. https://doi.org/10.1083/jcb.201006105
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