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Cited by 255

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 access
Krey, Jocelyn F, Paşca, Sergiu P, Shcheglovitov, Aleksandr, Yazawa, Masayuki, Schwemberger, Rachel, Rasmusson, Randall, Dolmetsch, Ricardo E·2013·Nature Neuroscience

Abstract

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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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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CoChat. (2026). Citation check: Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. https://app.cochat.ai/papers/10.1038/nn.3307
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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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