ArticleNature medicine2011
Using iPSC-derived neurons to uncover cellular phenotypes associated with Timothy syndrome.
Article in Nature medicine, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 338 papers.
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Who cites it
338 citing papers in PubMed, 586 citations in OpenAlex.
- Article
- Tutorial: interrogating biology using organoid technologies.Nature protocols · 2026Review
- The Role of Cytochrome P450 Holoenzyme Metabolism in the Origin of Neuropathologies.International journal of molecular sciences · 2026Review
- Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease.Molecular psychiatry · 2026Article
- Germline-mediated ubiquitous recombination in ScxCre male mice: implications for tendon research.bioRxiv : the preprint server for biology · 2026Article
- Article
- A novel computational model of human iPSC-derived ventricular myocytes with improved L-type calcium current for application to Timothy syndrome.Scientific reports · 2026Article
- Baker-Gordon Syndrome-Associated Synaptotagmin-1 Mutations Reduce Synaptic Strength in Mouse Primary and Human-Induced Neuronal Culture Models.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2026Article
- Germline-mediated ubiquitous recombination in ScxCre male mice: Implications for tendon research.PloS one · 2026Article
- Neuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models.Cell reports · 2025Article
- Human Assembloid Model of Emergent Neurotropic Enteroviruses.bioRxiv : the preprint server for biology · 2025Article
- The relationship between autism spectrum disorder and screen time in children: a literature review.Annals of medicine and surgery (2012) · 2025Review
- Disruptions in primary visual cortex physiology and function in a mouse model of Timothy syndrome.Cerebral cortex (New York, N.Y. : 1991) · 2025Article
- Differentiation Defect Into GABAergic Neurons in Cerebral Organoids From Autism Patients.CNS neuroscience & therapeutics · 2025Article
- The Hypoglycemic Activity ofGels (Basel, Switzerland) · 2025Article
- CACNA1A haploinsufficiency leads to reduced synaptic function and increased intrinsic excitability.Brain : a journal of neurology · 2025Article
- Development and characterization of a scalable calcium imaging assay using human iPSC-derived neurons.Frontiers in cellular neuroscience · 2025Article
- Voltage-gated calcium channels in genetic epilepsies.Journal of neurochemistry · 2024Review
- Voltage Gated Ion Channels and Sleep.The Journal of membrane biology · 2024Review
- NMDA Receptors in Neurodevelopmental Disorders: Pathophysiology and Disease Models.International journal of molecular sciences · 2024Review
278 more citing papers are in PubMed but not listed here.
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
Monogenic neurodevelopmental disorders provide key insights into the pathogenesis of disease and help us understand how specific genes control the development of the human brain. Timothy syndrome is caused by a missense mutation in the L-type calcium channel Ca(v)1.2 that is associated with developmental delay and autism. We generated cortical neuronal precursor cells and neurons from induced pluripotent stem cells derived from individuals with Timothy syndrome. Cells from these individuals have defects in calcium (Ca(2+)) signaling and activity-dependent gene expression. They also show abnormalities in differentiation, including decreased expression of genes that are expressed in lower cortical layers and in callosal projection neurons. In addition, neurons derived from individuals with Timothy syndrome show abnormal expression of tyrosine hydroxylase and increased production of norepinephrine and dopamine. This phenotype can be reversed by treatment with roscovitine, a cyclin-dependent kinase inhibitor and atypical L-type-channel blocker. These findings provide strong evidence that Ca(v)1.2 regulates the differentiation of cortical neurons in humans and offer new insights into the causes of autism in individuals with Timothy syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.