ArticleeLife2019
Aberrant calcium channel splicing drives defects in cortical differentiation in Timothy syndrome.
Open access · goldAbstract read
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Article in eLife, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 41 papers.
0numbers the graph read from it
0cells of the map it votes in
41citing papers in PubMed
2.7field-weighted citation impact, top 9% of its field
What it found
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Who cites it
41 citing papers in PubMed, 63 citations in OpenAlex.
- Article
- Timothy syndrome and CACNA1C-Related Disorder: first international language and management guidelines consensus statement.European journal of human genetics : EJHG · 2026Review
- Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease.Molecular psychiatry · 2026Article
- A novel computational model of human iPSC-derived ventricular myocytes with improved L-type calcium current for application to Timothy syndrome.Scientific reports · 2026Article
- Timothy Syndrome and CACNA1C-Related Disorder: First International Language and Management Guidelines Consensus Statement.Research square · 2025Article
- EFTUD2 Regulates Cortical Morphogenesis via Modulation of Caspase-3 and Aifm1 Splicing Pathways.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Cell-Type-Specific Splicing of Transcription Regulators andThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X.Biology open · 2025Article
- A Natural History Study of Timothy Syndrome.Orphanet journal of rare diseases · 2024Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Multiple beta cell-independent mechanisms drive hypoglycemia in Timothy syndrome.Nature communications · 2024Article
- Cell-type-specific splicing of transcription regulators andbioRxiv : the preprint server for biology · 2024Article
- An L-type calcium channel blocker nimodipine exerts anti-fibrotic effects by attenuating TGF-β1 induced calcium response in an in vitro model of thyroid eye disease.Eye and vision (London, England) · 2024Article
- Making Ramón y Cajal proud: Development of cell identity and diversity in the cerebral cortex.Neuron · 2024Review
- Article
- Article
- Splice-switching antisense oligonucleotides for pediatric neurological disorders.Frontiers in molecular neuroscience · 2024Review
- L-type calcium channels and neuropsychiatric diseases: Insights into genetic risk variant-associated genomic regulation and impact on brain development.Channels (Austin, Tex.) · 2023Review
- PIE-seq: identifying RNA-binding protein targets by dual RNA-deaminase editing and sequencing.Nature communications · 2023Article
- CACNA1C (CaNeuropharmacology · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Georgia PanagiotakosDepartment of Neurobiology, Stanford University School of Medicine, Stanford, United States.ORCID 0000-0001-9444-2480
Christos HavelesEli & Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, United States.
Arpana ArjunEli & Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, United States.
Ralitsa PetrovaEli & Edythe Broad Center of Regeneration Medicine and Stem Cell Research, University of California, San Francisco, San Francisco, United States.ORCID 0000-0001-5586-6192
Anshul RanaGraduate Program in Biochemistry, Stanford University School of Medicine, Stanford, United States.
Thomas PortmannDepartment of Neurobiology, Stanford University School of Medicine, Stanford, United States.
Sergiu P PaşcaDepartment of Neurobiology, Stanford University School of Medicine, Stanford, United States.ORCID 0000-0002-3216-3248
Theo D PalmerDepartment of Neurosurgery, Stanford University School of Medicine, Stanford, United States.
Ricardo E DolmetschDepartment of Neurobiology, Stanford University School of Medicine, Stanford, United States.ORCID 0000-0002-2738-8338
Stanford University · USUniversity of California, San Francisco · US
Funding
PREDOCTORAL TRAINING IN DEVELOPMENTAL BIOLOGYT32HD007470 · NICHD · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI Todd Nystul · 1994 to 2026
$7.7MUsing induced pluripotent stem cells to identify cellular phenotypes of autismDP1OD003889 · OD · STANFORD UNIVERSITY · PI DOLMETSCH, RICARDO E. · 2008 to 2011
$3.2MGABRB3 and Placental Vulnerability in ASDR01MH096815 · NIMH · STANFORD UNIVERSITY · PI PALMER, THEO D · 2012 to 2016
$2.9ML-type Calcium Channel Regulation of Neuronal DifferentiationF31MH090648 · NIMH · STANFORD UNIVERSITY · PI PANAGIOTAKOS, GEORGIA · 2010 to 2012
$107kBrain and Behavior Research Foundation NARSAD Young Investigator AwardHoward Hughes Medical Institute International Student Research AwardNICHD NIH HHS T32 HD007470NIH HHS DP1 OD003889NIH HHS F31 MH090648 Predoctoral FellowshipNIH HHS Pioneer Award 5DP1OD3889NIH HHS R01 MH096815NIMH NIH HHS F31 MH090648NIMH NIH HHS R01 MH096815Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung Postdoctoral Fellowship PBSKP3-123434Simons Foundation SFARI 206574Stanford University School of Medicine Frances B Nelson Neuroscience Graduate FellowshipStanford University School of Medicine Lucile P Markey Graduate FellowshipUniversity of California, San Francisco Program for Breakthrough Biomedical Research Sandler FoundationUniversity of California, San Francisco Program for Breakthrough Biomedical Research, Sandler Foundation
Abstract
The syndromic autism spectrum disorder (ASD) Timothy syndrome (TS) is caused by a point mutation in the alternatively spliced exon 8A of the calcium channel Ca
Indexed as
Alternative SplicingAnimalsAutism Spectrum DisorderAutistic DisorderBrainCalciumCalcium ChannelsCalcium Channels, L-TypeCell DifferentiationCerebral CortexExonsGene Expression Regulation, DevelopmentalHumansInduced Pluripotent Stem CellsLong QT SyndromeMatrix Attachment Region Binding ProteinsBCL11B protein, humanBcl11b protein, mouseCACNA1C protein, humanCalciumCalcium ChannelsCalcium Channels, L-TypeL-type calcium channel alpha(1C)Matrix Attachment Region Binding ProteinsRepressor ProteinsSATB2 protein, humanTranscription FactorsTumor Suppressor Proteinscalcium channel splicinghumanhuman induced pluripotent stem cellsmouseneuronal differentiationneuroscienceregenerative medicinestem cellsTimothy syndrome
Identifiers
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Read underepoch 390
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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.