The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons
Open accessAbstract
Mutations of the cyclin-dependent kinase-like 5 (CDKL5) and netrin-G1 (NTNG1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to Rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism. We report here that CDKL5 is localized at excitatory synapses and contributes to correct dendritic spine structure and synapse activity. To exert this role, CDKL5 binds and phosphorylates the cell adhesion molecule NGL-1. This phosphorylation event ensures a stable association between NGL-1 and PSD95. Accordingly, phospho-mutant NGL-1 is unable to induce synaptic contacts whereas its phospho-mimetic form binds PSD95 more efficiently and partially rescues the CDKL5-specific spine defects. Interestingly, similarly to rodent neurons, iPSC-derived neurons from patients with CDKL5 mutations exhibit aberrant dendritic spines, thus suggesting a common function of CDKL5 in mice and humans.
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Cites
Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2
Amir, R. E., Van den Veyver, I. B., Wan, M., Tran, C. Q., Francke, U., & Zoghbi, H. Y. (1999) · Nature Genetics · doi:10.1038/13810 · Cited by 4,990
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations
O’Roak, B. J., Vives, L., Girirajan, S., Karakoc, E., Krumm, N., Coe, B. P., Levy, R., Ko, A., Lee, C., Smith, J. D., et al. (2012) · Nature · doi:10.1038/nature10989 · Cited by 2,165
The Story of Rett Syndrome: From Clinic to Neurobiology
Chahrour, M., & Zoghbi, H. Y. (2007) · Neuron · doi:10.1016/j.neuron.2007.10.001 · Cited by 1,265
Migaud, M., Charlesworth, P., Dempster, M., Webster, L. C., Watabe, A. M., Makhinson, M., He, Y., Ramsay, M. F., Morris, R. G. M., Morrison, J. H., et al. (1998) · Nature · doi:10.1038/24790 · Cited by 1,160
Integration of biochemical signalling in spines
Kennedy, M. B., Beale, H. C., Carlisle, H. J., & Washburn, L. R. (2005) · Nature Reviews Neuroscience · doi:10.1038/nrn1685 · Cited by 286
Disruption of Netrin G1 by a balanced chromosome translocation in a girl with Rett syndrome
Borg, I., Freude, K., Kübart, S., Hoffmann, K., Menzel, C., Laccone, F., Firth, H., Ferguson-Smith, M. A., Tommerup, N., Ropers, H.-H., et al. (2005) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201429 · Cited by 95
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de la Torre-Ubieta, L., Won, H., Stein, J. L., & Geschwind, D. H. (2016) · Nature Medicine · doi:10.1038/nm.4071 · Cited by 827
Dendritic Spines: The Locus of Structural and Functional Plasticity
Sala, C., & Segal, M. (2014) · Physiological Reviews · doi:10.1152/physrev.00012.2013 · Cited by 465
Self-citationDendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464
Induced pluripotent stem cells: the new patient?
Bellin, M., Marchetto, M. C., Gage, F. H., & Mummery, C. L. (2012) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3448 · Cited by 431
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Metadata
- Authors
- Ricciardi, S., Ungaro, F., Hambrock, M., Rademacher, N., Stefanelli, G., Brambilla, D., Sessa, A., Magagnotti, C., Bachi, A., Giarda, E., Verpelli, C., Kilstrup-Nielsen, C., Sala, C., Kalscheuer, V. M., & Broccoli, V.
- Venue
- Nature Cell Biology
- Published
- 2012-08-26
- Volume
- 14
- Issue
- 9
- Pages
- 911-923
- ISSN
- 1465-7392 (ISSN-L)
- 1476-4679
- OpenAlex
- W1999024554
- Cited by
- 266
- References
- 6
- FWCI
- 10.98
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. https://app.cochat.ai/papers/10.1038/ncb2566
- The paper
- Ricciardi, S., Ungaro, F., Hambrock, M., Rademacher, N., Stefanelli, G., Brambilla, D., Sessa, A., Magagnotti, C., Bachi, A., Giarda, E., Verpelli, C., Kilstrup-Nielsen, C., Sala, C., Kalscheuer, V. M., & Broccoli, V. (2012). CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature Cell Biology. https://doi.org/10.1038/ncb2566
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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.
