ArticleCell stem cell2014
Modeling a genetic risk for schizophrenia in iPSCs and mice reveals neural stem cell deficits associated with adherens junctions and polarity.
Erratum issuedOpen access · bronzeAbstract read
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Article in Cell stem cell, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 156 papers, 1 of them a synthesis that pooled it.
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156citing papers in PubMed, 1 pooled it
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156 citing papers in PubMed, 1 synthesis or guideline pooled it, 254 citations in OpenAlex.
- Mental health dished up-the use of iPSC models in neuropsychiatric research.Journal of neural transmission (Vienna, Austria : 1996) · 2020Pooled it
- Hyperdynamic microtubule-based structural changes in Monocyte-Derived-Neuronal-like cells from patients with schizophrenia.Schizophrenia (Heidelberg, Germany) · 2026Article
- Control of microglial dynamics by the Arp2/3 complex and the autism- and schizophrenia-associated protein CYFIP1.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- Altered development and network connectivity in a human neuronal model of 15q11.2 deletion-related neurodevelopmental disorders.Translational psychiatry · 2025Article
- Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.Genome medicine · 2025Article
- Rare Copy Number Variants Reveal Critical Cell Types and Periods of Brain Development in Neurodevelopmental Disorders.Biological psychiatry global open science · 2025Article
- Cerebral organoid research for pediatric patients with neurological disorders.Clinical and experimental pediatrics · 2025Article
- Antiviral immunity within neural stem cells distinguishes Enterovirus-D68 strain differences in forebrain organoids.Journal of neuroinflammation · 2024Article
- Probing the molecular and cellular pathological mechanisms of schizophrenia using human induced pluripotent stem cell models.Schizophrenia research · 2024Review
- In vivo and ex vivo gene therapy for neurodegenerative diseases: a promise for disease modification.Naunyn-Schmiedeberg's archives of pharmacology · 2024Review
- Network-based drug repurposing for schizophrenia.Neuropsychopharmacology : official publication of the American College of Neuropsychopharmacology · 2024Article
- Induced pluripotent stem cells (iPSCs): molecular mechanisms of induction and applications.Signal transduction and targeted therapy · 2024Review
- Loss of Function in the Neurodevelopmental Disease and Schizophrenia-Associated Gene CYFIP1 in Human Microglia-like Cells Supports a Functional Role in Synaptic Engulfment.Biological psychiatry · 2024Article
- Beyond the Global Brain Differences: Intraindividual Variability Differences in 1q21.1 Distal and 15q11.2 BP1-BP2 Deletion Carriers.Biological psychiatry · 2024Article
- Metergoline Shares Properties with Atypical Antipsychotic Drugs Identified by Gene Expression Signature Screen.Neurotoxicity research · 2023Article
- Non-synaptic function of the autism spectrum disorder-associated gene SYNGAP1 in cortical neurogenesis.Nature neuroscience · 2023Article
- Human pluripotent stem cell (hPSC) and organoid models of autism: opportunities and limitations.Translational psychiatry · 2023Review
- Shedding light on latent pathogenesis and pathophysiology of mental disorders: The potential of iPS cell technology.Psychiatry and clinical neurosciences · 2023Review
- Article
- Opportunities and limitations for studying neuropsychiatric disorders using patient-derived induced pluripotent stem cells.Molecular psychiatry · 2023Review
96 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
26 authors at 4 institutions in 3 countries.
Ki-Jun YoonInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Ha Nam NguyenInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Graduate Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Gianluca UrsiniLieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Fengyu ZhangLieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Nam-Shik KimInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Zhexing WenInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Georgia MakriInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
David NauenDepartment of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Joo Heon ShinLieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Youngbin ParkInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Raeeun ChungInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Eva PekleInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Ce ZhangInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Maxwell ToweInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Syed Mohammed Qasim HussainiInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Yohan LeeChild Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892, USA.
Dan RujescuDepartment of Psychiatry, Ludwig-Maximilians University, Nussbaumstrasse 7, 80336, Munich, Germany.
David St ClairUniversity of Aberdeen Royal Cornhill Hospital, Aberdeen AB25 2ZD, UK.
Joel E KleinmanLieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Thomas M HydeLieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Gregory KraussDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Kimberly M ChristianInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Judith L RapoportChild Psychiatry Branch, National Institute of Mental Health, Bethesda, MD 20892, USA.
Daniel R WeinbergerDepartment of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Lieber Institute for Brain Development, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.
Hongjun SongInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Graduate Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: shongju1@jhmi.edu.
Guo-Li MingInstitute for Cell Engineering, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; Graduate Program in Cellular and Molecular Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA; The Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA. Electronic address: gming1@jhmi.edu.
Johns Hopkins University · USNational Institute of Mental Health · USLudwig-Maximilians-Universität München · DEUniversity of Aberdeen · GB
Funding
Childhood Onset SchizophreniaZIAMH002581 · NIMH · NATIONAL INSTITUTE OF MENTAL HEALTH · PI RAPOPORT, JUDITH L. · 2009 to 2017
$25.5MTraining Program in Cellular and Molecular MedicineT32GM008752 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI RAO, RAJINI · 2000 to 2019
$11.7MDevelopment of new neurons in the adult brainR01NS047344 · NINDS · JOHNS HOPKINS UNIVERSITY · PI SONG, HONGJUN · 2003 to 2011
$3.4MCalcium signaling in neuronal navigationR01NS048271 · NINDS · JOHNS HOPKINS UNIVERSITY · PI MING, GUO-LI · 2004 to 2014
$3.2MLocal circuitry mechanisms regulating adult hippocampal neurogenesisR37NS047344 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI SONG, HONGJUN · 2013 to 2019
$2.9MNeural Development of Human Induced Pluripotent Stem Cells from Schizophrenia PatR33MH087874 · NIMH · JOHNS HOPKINS UNIVERSITY · PI SONG, HONGJUN · 2011 to 2012
$805kNeurobiology of MeCP2 in adult neurogenesisR01HD069184 · NICHD · JOHNS HOPKINS UNIVERSITY · PI MING, GUO-LI · 2010 to 2012
$734kNeural Development of Human Induced Pluripotent Stem Cells from Schizophrenia PatR21MH087874 · NIMH · JOHNS HOPKINS UNIVERSITY · PI SONG, HONGJUN · 2009 to 2010
$488kCircuitry mechanisms regulating adult hippocampal neurogenesisR56NS047344 · NINDS · JOHNS HOPKINS UNIVERSITY · PI SONG, HONGJUN · 2012 to 2012
$405kInvestigating the role of DISC1 using iPSCs from patients with mental disordersF31MH102978 · NIMH · JOHNS HOPKINS UNIVERSITY · PI NGUYEN, HA NAM · 2013 to 2014
$83kNICHD NIH HHS HD069184NICHD NIH HHS R01 HD069184NIGMS NIH HHS T32 GM008752NIMH NIH HHS F31 MH102978NIMH NIH HHS F31MH102978NIMH NIH HHS MH087874NIMH NIH HHS R21 MH087874NIMH NIH HHS R33 MH087874NINDS NIH HHS NS047344NINDS NIH HHS NS048271NINDS NIH HHS R01 NS047344NINDS NIH HHS R01 NS048271NINDS NIH HHS R37 NS047344NINDS NIH HHS R56 NS047344
Abstract
Defects in brain development are believed to contribute toward the onset of neuropsychiatric disorders, but identifying specific underlying mechanisms has proven difficult. Here, we took a multifaceted approach to investigate why 15q11.2 copy number variants are prominent risk factors for schizophrenia and autism. First, we show that human iPSC-derived neural progenitors carrying 15q11.2 microdeletion exhibit deficits in adherens junctions and apical polarity. This results from haploinsufficiency of CYFIP1, a gene within 15q11.2 that encodes a subunit of the WAVE complex, which regulates cytoskeletal dynamics. In developing mouse cortex, deficiency in CYFIP1 and WAVE signaling similarly affects radial glial cells, leading to their ectopic localization outside of the ventricular zone. Finally, targeted human genetic association analyses revealed an epistatic interaction between CYFIP1 and WAVE signaling mediator ACTR2 and risk for schizophrenia. Our findings provide insight into how CYFIP1 regulates neural stem cell function and may contribute to the susceptibility of neuropsychiatric disorders.
Indexed as
Actin-Related Protein 2Adaptor Proteins, Signal TransducingAdherens JunctionsAdultAnimalsAutistic DisorderCell LineCell PolarityChromosome AberrationsChromosomes, Human, Pair 15DNA Copy Number VariationsEpistasis, GeneticGenetic Association StudiesHaploinsufficiencyHumansInduced Pluripotent Stem CellsActin-Related Protein 2Adaptor Proteins, Signal TransducingCYFIP1 protein, humanWASF1 protein, humanWiskott-Aldrich Syndrome Protein Family
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