The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies
Open accessAbstract
Phosphotidylinositol (PtdIns) signaling is tightly regulated both spatially and temporally by subcellularly localized PtdIns kinases and phosphatases that dynamically alter downstream signaling events. Joubert syndrome is characterized by a specific midbrain-hindbrain malformation ('molar tooth sign'), variably associated retinal dystrophy, nephronophthisis, liver fibrosis and polydactyly and is included in the newly emerging group of 'ciliopathies'. In individuals with Joubert disease genetically linked to JBTS1, we identified mutations in the INPP5E gene, encoding inositol polyphosphate-5-phosphatase E, which hydrolyzes the 5-phosphate of PtdIns(3,4,5)P3 and PtdIns(4,5)P2. Mutations clustered in the phosphatase domain and impaired 5-phosphatase activity, resulting in altered cellular PtdIns ratios. INPP5E localized to cilia in major organs affected by Joubert syndrome, and mutations promoted premature destabilization of cilia in response to stimulation. These data link PtdIns signaling to the primary cilium, a cellular structure that is becoming increasingly recognized for its role in mediating cell signals and neuronal function.
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
HEF1-Dependent Aurora A Activation Induces Disassembly of the Primary Cilium
Pugacheva, E. N., Jablonski, S. A., Hartman, T. R., Henske, E. P., & Golemis, E. A. (2007) · Cell · doi:10.1016/j.cell.2007.04.035 · Cited by 890
The Graded Response to Sonic Hedgehog Depends on Cilia Architecture
Caspary, T., Larkins, C. E., & Anderson, K. V. (2007) · Developmental Cell · doi:10.1016/j.devcel.2007.03.004 · Cited by 727
Jiang, X.-R., Jimenez, G., Chang, E., Frolkis, M., Kusler, B., Sage, M., Beeche, M., Bodnar, A. G., Wahl, G. M., Tlsty, T. D., et al. (1999) · Nature Genetics · doi:10.1038/5056 · Cited by 668
PDGFRαα Signaling Is Regulated through the Primary Cilium in Fibroblasts
Schneider, L., Clement, C. A., Teilmann, S. C., Pazour, G. J., Hoffmann, E. K., Satir, P., & Christensen, S. T. (2005) · Current Biology · doi:10.1016/j.cub.2005.09.012 · Cited by 592
Rodriguez, L. G., Wu, X., & Guan, J.-L. (2004) · Cell Migration · doi:10.1385/1-59259-860-9:023 · Cited by 557
Valente, E. M., Silhavy, J. L., Brancati, F., Barrano, G., Krishnaswami, S. R., Castori, M., Lancaster, M. A., Boltshauser, E., Boccone, L., Al-Gazali, L., et al. (2006) · Nature Genetics · doi:10.1038/ng1805 · Cited by 403
Self-citationMutations in the Cilia Gene ARL13B Lead to the Classical Form of Joubert Syndrome
Cantagrel, V., Silhavy, J. L., Bielas, S. L., Swistun, D., Marsh, S. E., Bertrand, J. Y., Audollent, S., Attié-Bitach, T., Holden, K. R., Dobyns, W. B., et al. (2008) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.06.023 · Cited by 390
Self-citationG-Protein Signaling Through Tubby Proteins
Santagata, S., Boggon, T. J., Baird, C. L., Gomez, C. A., Zhao, J., Shan, W. S., Myszka, D. G., & Shapiro, L. (2001) · Science · doi:10.1126/science.1061233 · Cited by 389
Centriole ciliation is related to quiescence and DNA synthesis in 3T3 cells
Tucker, R. W., Pardee, A. B., & Fujiwara, K. (1979) · Cell · doi:10.1016/0092-8674(79)90261-7 · Cited by 366
Gherman, A., Davis, E. E., & Katsanis, N. (2006) · Nature Genetics · doi:10.1038/ng0906-961 · Cited by 291
Kim, J., Krishnaswami, S. R., & Gleeson, J. G. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn277 · Cited by 290
Self-citationINGLIS, P., BOROEVICH, K., & LEROUX, M. (2006) · Trends in Genetics · doi:10.1016/j.tig.2006.07.006 · Cited by 206
Chizhikov, V. V., Davenport, J., Zhang, Q., Shih, E. K., Cabello, O. A., Fuchs, J. L., Yoder, B. K., & Millen, K. J. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.5586-06.2007 · Cited by 204
Zhang, X., Hartz, P. A., Philip, E., Racusen, L. C., & Majerus, P. W. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.3.1574 · Cited by 167
Self-citationeasyLINKAGE-Plus--automated linkage analyses using large-scale SNP data
Hoffmann, K., & Lindner, T. H. (2005) · Bioinformatics · doi:10.1093/bioinformatics/bti571 · Cited by 164
Proliferation Versus Migration in Platelet-derived Growth Factor Signaling
Donatis, A. D., Comito, G., Buricchi, F., Vinci, M. C., Parenti, A., Caselli, A., Camici, G., Manao, G., Ramponi, G., & Cirri, P. (2008) · Journal of Biological Chemistry · doi:10.1074/jbc.m709428200 · Cited by 155
Genotypes and phenotypes of Joubert syndrome and related disorders
Valente, E. M., Brancati, F., & Dallapiccola, B. (2007) · European Journal of Medical Genetics · doi:10.1016/j.ejmg.2007.11.003 · Cited by 143
Self-citationKisseleva, M. V., Wilson, M. P., & Majerus, P. W. (2000) · Journal of Biological Chemistry · doi:10.1074/jbc.m910119199 · Cited by 142
Self-citationAHI1 gene mutations cause specific forms of Joubert syndrome–related disorders
Valente, E. M., Brancati, F., Silhavy, J. L., Castori, M., Marsh, S., Barrano, G., Bertini, E., Boltshauser, E., Zaki, M. S., Aleem, A. K. A., et al. (2006) · Annals of Neurology · doi:10.1002/ana.20749 · Cited by 140
Self-citationSaar, K., Al‐Gazali, L., Sztriha, L., Rueschendorf, F., Nur-E-Kamal, M., Reis, A., & Bayoumi, R. (1999) · The American Journal of Human Genetics · doi:10.1086/302655 · Cited by 136
Self-citationSpecificity Determinants in Phosphoinositide Dephosphorylation
Tsujishita, Y., Guo, S., Stolz, L. E., York, J. D., & Hurley, J. H. (2001) · Cell · doi:10.1016/s0092-8674(01)00326-9 · Cited by 132
Distinguishing the four genetic causes of jouberts syndrome–related disorders
Valente, E. M., Marsh, S., Castori, M., Dixon‐Salazar, T., Bertini, E., Al‐Gazali, L., Messer, J., Barbot, C., Woods, C. G., Boltshauser, E., et al. (2005) · Annals of Neurology · doi:10.1002/ana.20422 · Cited by 113
Self-citationHigginbotham, H., Bielas, S. L., Tanaka, T., & Gleeson, J. G. (2004) · Transgenic Research · doi:10.1023/b:trag.0000026071.41735.8e · Cited by 109
Self-citationKisseleva, M. V., Cao, L., & Majerus, P. W. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m105969200 · Cited by 97
Self-citationVicinanza, M., D’Angelo, G., Campli, A. D., & Matteis, M. A. D. (2008) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-008-8353-2 · Cited by 86
A highly informative SNP linkage panel for human genetic studies
Murray, S. S., Oliphant, A., Shen, R., McBride, C., Steeke, R., Shannon, S. G., Rubano, T., Kermani, B. G., Fan, J., Chee, M. S., et al. (2004) · Nature Methods · doi:10.1038/nmeth712 · Cited by 69
Kong, A. M., Horan, K., Sriratana, A., Bailey, C. G., Collyer, L. J., Nandurkar, H. H., Shisheva, A., Layton, M. J., Rasko, J. E. J., Rowe, T., et al. (2006) · Molecular and Cellular Biology · doi:10.1128/mcb.00203-06 · Cited by 51
Caldwell, K. K., Lips, D. L., Bansal, V. S., & Majerus, P. W. (1991) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)55281-9 · Cited by 48
Self-citationVandeput, F., Backers, K., Villeret, V., Pesesse, X., & Erneux, C. (2006) · Cellular Signalling · doi:10.1016/j.cellsig.2006.05.010 · Cited by 30
Rohatgi, R., & Scott, M. P. (2008) · Science · doi:10.1126/science.1160448 · Cited by 12
Solano (2000) · doi:10.1002/1531-8249(200002)47:2 · Cited by 3
Research works printed but not linked: 2
- Alieva, I.B., Gorgidze, L.A., Komarova, Y.A., Chernobelskaya, O.A. & Vorobjev, I.A. Experimental model for studying the primary cilia in tissue culture cells. Membr. Cell Biol. 12, 895–905 (1999).
- Gleeson, J.G. et al. Genetic and neuroradiological heterogeneity of double cortex syndrome. Ann. Neurol. 47, 265–269 (2000). · doi:10.1002/1531-8249(200002)47:2<265::aid-ana22>3.0.co;2-n
Cited by
The primary cilium: a signalling centre during vertebrate development
Goetz, S. C., & Anderson, K. V. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2774 · Cited by 1,824
The emerging mechanisms of isoform-specific PI3K signalling
Vanhaesebroeck, B., Guillermet-Guibert, J., Graupera, M., & Bilanges, B. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2882 · Cited by 1,767
Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation
Balla, T. (2013) · Physiological Reviews · doi:10.1152/physrev.00028.2012 · Cited by 1,638
Hildebrandt, F., Benzing, T., & Katsanis, N. (2011) · New England Journal of Medicine · doi:10.1056/nejmra1010172 · Cited by 1,331
PI3K signalling: the path to discovery and understanding
Vanhaesebroeck, B., Stephens, L., & Hawkins, P. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3290 · Cited by 987
Metadata
- Authors
- 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., Kayserili, H., Swistun, D., Scott, L. C., Bertini, E., Boltshauser, E., Fazzi, E., Travaglini, L., Field, S. J., Gayral, S., Jacoby, M., Schurmans, S., Dallapiccola, B., Majerus, P. W., Valente, E. M., & Gleeson, J. G.
- Venue
- Nature Genetics
- Published
- 2009-08-09
- Volume
- 41
- Issue
- 9
- Pages
- 1032-1036
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2114339744
- Cited by
- 396
- References
- 32
- FWCI
- 17.29
- Type
- journal article
- Language
- en
- Open access
- green
- Licence
- www.springer.com/tdm (tdm)
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
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.
