The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium
Open accessAbstract
Joubert syndrome (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement, ataxia and mental retardation. Mutations in CEP290 mutations are responsible for the cerebello-oculo-renal subtype of JS that includes kidney cysts and retinal degeneration, two phenotypes commonly linked to ciliopathies. CEP290 mutations are also associated with Meckel-Gruber syndrome and Bardet-Biedl syndrome (BBS). Here we demonstrate that CEP290 interacts with a centriolar satellite protein PCM-1, which is implicated in BBS4 function. CEP290 binds to PCM-1 and localizes to centriolar satellites in a PCM-1- and microtubule-dependent manner. The depletion of CEP290 disrupts subcellular distribution and protein complex formation of PCM-1. In accord with PCM-1's role in microtubule organization, CEP290 knockdown causes the disorganization of the cytoplasmic microtubule network. Moreover, we show that both CEP290 and PCM-1 are required for ciliogenesis and are involved in the ciliary targeting of Rab8, a small GTPase shown to collaborate with BBS protein complex to promote ciliogenesis. Our results suggest that PCM-1 is a potential mediator that may link CEP290 with BBS proteins in common molecular pathways.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Nachury, M. V., Loktev, A. V., Zhang, Q., Westlake, C. J., Peränen, J., Merdes, A., Slusarski, D. C., Scheller, R. H., Bazan, J. F., Sheffield, V. C., et al. (2007) · Cell · doi:10.1016/j.cell.2007.03.053 · Cited by 1,384
Cited by
Taverna, E., Götz, M., & Huttner, W. B. (2014) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev-cellbio-101011-155801 · Cited by 759
Bielas, S. L., Silhavy, J. L., Brancati, F., Kisseleva, M. V., Al-Gazali, L., Sztriha, L., Bayoumi, R. A., Zaki, M. S., Abdel-Aleem, A., Rosti, R. O., et al. (2009) · Nature Genetics · doi:10.1038/ng.423 · Cited by 396
Self-citationCiliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease
Keryer, G., Pineda, J. R., Liot, G., Kim, J., Dietrich, P., Benstaali, C., Smith, K., Cordelières, F. P., Spassky, N., Ferrante, R. J., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci57552 · Cited by 168
Self-citationRole for the IFT-A Complex in Selective Transport to the Primary Cilium
Fu, W., Wang, L., Kim, S., Li, J., & Dynlacht, B. D. (2016) · Cell Reports · doi:10.1016/j.celrep.2016.10.018 · Cited by 86
Holdgaard, S. G., Cianfanelli, V., Pupo, E., Lambrughi, M., Lubas, M., Nielsen, J. C., Eibes, S., Maiani, E., Harder, L. M., Wesch, N., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-12094-9 · Cited by 84
Metadata
- Authors
- Kim, J., Krishnaswami, S. R., & Gleeson, J. G.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2008-09-04
- Volume
- 17
- Issue
- 23
- Pages
- 3796-3805
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2099730852
- Cited by
- 290
- References
- 1
- FWCI
- 10.90
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. https://app.cochat.ai/papers/10.1093/hmg/ddn277
- The paper
- Kim, J., Krishnaswami, S. R., & Gleeson, J. G. (2008). CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium. Human Molecular Genetics. https://doi.org/10.1093/hmg/ddn277
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
