The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons
Open accessAbstract
L-type voltage gated calcium channels have an important role in neuronal development by promoting dendritic growth and arborization. A point mutation in the gene encoding CaV1.2 causes Timothy syndrome, a neurodevelopmental disorder associated with autism spectrum disorders (ASDs). We report that channels with the Timothy syndrome alteration cause activity-dependent dendrite retraction in rat and mouse neurons and in induced pluripotent stem cell (iPSC)-derived neurons from individuals with Timothy syndrome. Dendrite retraction was independent of calcium permeation through the mutant channel, was associated with ectopic activation of RhoA and was inhibited by overexpression of the channel-associated GTPase Gem. These results suggest that CaV1.2 can activate RhoA signaling independently of Ca2+ and provide insights into the cellular basis of Timothy syndrome and other ASDs.
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Cites
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CaV1.2 Calcium Channel Dysfunction Causes a Multisystem Disorder Including Arrhythmia and Autism
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Common genetic variants on 5p14.1 associate with autism spectrum disorders
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Activity-dependent regulation of dendritic growth and patterning
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Minicolumnar abnormalities in autism
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CACNA1H mutations in autism spectrum disorders
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Self-citationSloan, S. A., Darmanis, S., Huber, N., Khan, T. A., Birey, F., Caneda, C., Reimer, R., Quake, S. R., Barres, B. A., & Paşca, S. P. (2017) · Neuron · doi:10.1016/j.neuron.2017.07.035 · Cited by 593
Self-citationMaturation and circuit integration of transplanted human cortical organoids
Revah, O., Gore, F., Kelley, K. W., Andersen, J., Sakai, N., Chen, X., Li, M.-Y., Birey, F., Yang, X., Saw, N. L., et al. (2022) · Nature · doi:10.1038/s41586-022-05277-w · Cited by 504
Self-citationDendritic structural plasticity and neuropsychiatric disease
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Metadata
- Authors
- Krey, J. F., Paşca, S. P., Shcheglovitov, A., Yazawa, M., Schwemberger, R., Rasmusson, R., & Dolmetsch, R. E.
- Venue
- Nature Neuroscience
- Published
- 2013-01-13
- Volume
- 16
- Issue
- 2
- Pages
- 201-209
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2139695427
- Cited by
- 255
- References
- 9
- FWCI
- 13.99
- Type
- journal article
- Language
- en
- Open access
- green
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- Krey, J. F., Paşca, S. P., Shcheglovitov, A., Yazawa, M., Schwemberger, R., Rasmusson, R., & Dolmetsch, R. E. (2013). Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nature Neuroscience. https://doi.org/10.1038/nn.3307
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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