ArticleMolecular psychiatry2019
Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.
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Article in Molecular psychiatry, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 48 papers, 1 of them a synthesis that pooled it.
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48citing papers in PubMed, 1 pooled it
3.2field-weighted citation impact, top 7% of its field
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Who cites it
48 citing papers in PubMed, 1 synthesis or guideline pooled it, 77 citations in OpenAlex.
- The Caribbean-Hispanic Alzheimer's disease brain transcriptome reveals ancestry-specific disease mechanisms.Neurobiology of disease · 2023Pooled it
- Transcriptional Heterogeneity of Oligodendrocytes: Molecular Basis of Diversity Across Development, Brain Regions, and Neurological Diseases.Neurology international · 2026Review
- Molecular Signatures of Schizophrenia and Insights into Potential Biological Convergence.International journal of molecular sciences · 2025Review
- Psychiatric Implications of Genetic Variations in Oligodendrocytes: Insights from hiPSC Models.Life (Basel, Switzerland) · 2025Review
- Canonical and non-canonical roles of oligodendrocyte precursor cells in mental disorders.Npj mental health research · 2025Review
- Impairment of Oligodendroglial Lineage Cells: An Important Player in the Pathogenesis of Psychiatric Disorders.Advances in neurobiology · 2025Review
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Probing the molecular and cellular pathological mechanisms of schizophrenia using human induced pluripotent stem cell models.Schizophrenia research · 2024Review
- RAPIDASH: Tag-free enrichment of ribosome-associated proteins reveals composition dynamics in embryonic tissue, cancer cells, and macrophages.Molecular cell · 2024Article
- Human Pluripotent Stem Cell-Derived Astrocyte Functionality Compares Favorably with Primary Rat Astrocytes.eNeuro · 2024Article
- Dysregulation of myelination-related genes in schizophrenia.Journal of neurochemistry · 2024Review
- Hub genes, a diagnostic model, and immune infiltration based on ferroptosis-linked genes in schizophrenia.IBRO neuroscience reports · 2024Article
- The Genomic Intersection of Oligodendrocyte Dynamics in Schizophrenia and Aging Unravels Novel Pathological Mechanisms and Therapeutic Potentials.International journal of molecular sciences · 2024Review
- Functional myelin in cognition and neurodevelopmental disorders.Cellular and molecular life sciences : CMLS · 2024Review
- Deciphering Oligodendrocyte Lineages in the Human Fetal Central Nervous System Using Single-Cell RNA Sequencing.Molecular neurobiology · 2024Article
- Comparing stem cells, transdifferentiation and brain organoids as tools for psychiatric research.Translational psychiatry · 2024Review
- RAPIDASH: A tag-free enrichment of ribosome-associated proteins reveals compositional dynamics in embryonic tissues and stimulated macrophages.bioRxiv : the preprint server for biology · 2023Article
- Functional analysis of rare anti-Müllerian hormone protein-altering variants identified in women with PCOS.Molecular human reproduction · 2023Article
- An In Vitro Model of Glioma Development.Genes · 2023Article
- Neuron-Glial Antigen 2 Participates in Liver Fibrosis via Regulating the Differentiation of Bone Marrow Mesenchymal Stem Cell to Myofibroblast.International journal of molecular sciences · 2023Article
Corrections and comments
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Authors and funding
44 authors at 8 institutions in 3 countries.
Femke M de Vrij *Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Christian G Bouwkamp *Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Nilhan Gunhanlar *Department of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Guy ShpakDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Bas LendemeijerDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Maarouf BaghdadiDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Shreekara GopalakrishnaDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-8555-0292
Mehrnaz GhazviniDepartment of Developmental Biology, and Erasmus MC iPS Facility, Erasmus Medical Center, Rotterdam, The Netherlands.
Tracy M LiDepartment of Developmental Biology, and Erasmus MC iPS Facility, Erasmus Medical Center, Rotterdam, The Netherlands.
Marialuisa QuadriDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Simone OlgiatiDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Guido J BreedveldDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Michiel CoesmansDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Edwin MientjesDepartment of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.
Ton de WitDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Frans W VerheijenDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
H Berna BeverlooDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Dan CohenMental Health Care Organization North-Holland North, Heerhugowaard, The Netherlands.
Rob M KokParnassia Psychiatric Institute, The Hague, The Netherlands.
P Roberto BakkerDepartment of Psychiatry and Psychology, School of Mental Health and Neuroscience, Maastricht University Medical Center, Maastricht, The Netherlands.
Aviva NijburgParnassia Psychiatric Institute, The Hague, The Netherlands.
Annet T SpijkerParnassia Psychiatric Institute, The Hague, The Netherlands.
P M Judith HaffmansFaculty of Social and Behavioral Sciences Clinical, Health and Neuro Psychology, Department of Affective Disorders, PsyQ, Leiden University, Leiden, The Netherlands.
Erik HoencampParnassia Psychiatric Institute, The Hague, The Netherlands.
Veerle BerginkDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
GROUP Study Consortium
Jacob A VorstmanDepartment of Psychiatry, Brain Center Rudolf Magnus, University Medical Center Utrecht, Utrecht, The Netherlands.
Timothy WuCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.
Loes M Olde LoohuisCenter for Neurobehavioral Genetics, Semel Institute for Neuroscience and Human Behavior, University of California, Los Angeles, CA, USA.ORCID http://orcid.org/0000-0002-3327-7837
Najaf AminDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Carolyn D LangenDepartment of Radiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Albert HofmanDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Witte J HoogendijkDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
M Arfan IkramDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0003-0372-8585
Meike W VernooijDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Henning TiemeierDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-4395-1397
André G UitterlindenDepartment of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands.
Ype ElgersmaDepartment of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.ORCID http://orcid.org/0000-0002-3758-1297
Ben DistelDepartment of Medical Biochemistry, Academic Medical Centre, Amsterdam, The Netherlands.
Joost GribnauDepartment of Developmental Biology, and Erasmus MC iPS Facility, Erasmus Medical Center, Rotterdam, The Netherlands.
Tonya WhiteDepartment of Medical Informatics, Erasmus Medical Center, Rotterdam, The Netherlands.
Vincenzo BonifatiDepartment of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.
Steven A KushnerDepartment of Psychiatry, Erasmus Medical Center, Rotterdam, The Netherlands. s.kushner@erasmusmc.nl.ORCID http://orcid.org/0000-0002-9777-3338
Erasmus MC · NLParnassia Groep · NLLeiden University · NLUniversity of California, Los Angeles · USAmsterdam UMC Location University of Amsterdam · NLGGZ Noord-Holland-Noord · NLMaastricht University · NLUniversity of Toronto · CA
Funding
Comprehensive Sequencing and Analysis of Variation in NHLBI CohortsUC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2010 to 2010
$14.7MNorthwest Genomics CenterUC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2010 to 2010
$14.0MNorthwest Genomics CenterRC2HL102926 · NHLBI · UNIVERSITY OF WASHINGTON · PI GREEN, PHILIP P, NICKERSON, DEBORAH A · 2009 to 2009
$11.0MComprehensive Sequencing and Analysis of Variation in NHLBI CohortsRC2HL102925 · NHLBI · BROAD INSTITUTE, INC. · PI ALTSHULER, DAVID, GABRIEL, STACEY · 2009 to 2009
$10.2MA Large-Scale Schizophrenia Association Study in SwedenR01MH077139 · NIMH · UNIV OF NORTH CAROLINA CHAPEL HILL · PI SULLIVAN, PATRICK F · 2007 to 2018
$9.9MARRA - NHLBI Lung Cohorts Sequencing ProjectRC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2009 to 2009
$2.6MARRA - NHLBI Lung Cohorts Sequencing ProjectUC2HL102923 · NHLBI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, BARNES, KATHLEEN C · 2010 to 2010
$2.6MWHI Sequencing Project (WHISP)UC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2010 to 2010
$2.4MGENETICS OF SCHIZOPHRENIA IN LATINO POPULATIONSR01MH060881 · NIMH · UNIVERSITY OF TEXAS HLTH SCI CTR SAN ANT · PI ESCAMILLA, MICHAEL A · 2000 to 2003
$2.1MWHI Sequencing Project (WHISP)RC2HL102924 · NHLBI · OHIO STATE UNIVERSITY · PI CARLSON, CHRISTOPHER S, JACKSON, REBECCA D · 2009 to 2009
$2.1MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsUC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2010 to 2010
$1.5MHuman Exome Sequencing in Six Well-Phenotyped NHLBI CohortsRC2HL103010 · NHLBI · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2009 to 2009
$817kNHLBI NIH HHS RC2 HL102923NHLBI NIH HHS RC2 HL102924NHLBI NIH HHS RC2 HL102925NHLBI NIH HHS RC2 HL102926NHLBI NIH HHS RC2 HL103010NHLBI NIH HHS UC2 HL102923NHLBI NIH HHS UC2 HL102924NHLBI NIH HHS UC2 HL102925NHLBI NIH HHS UC2 HL102926NHLBI NIH HHS UC2 HL103010NIMH NIH HHS R01 MH060875NIMH NIH HHS R01 MH060881NIMH NIH HHS R01 MH077139
Abstract
Schizophrenia is highly heritable, yet its underlying pathophysiology remains largely unknown. Among the most well-replicated findings in neurobiological studies of schizophrenia are deficits in myelination and white matter integrity; however, direct etiological genetic and cellular evidence has thus far been lacking. Here, we implement a family-based approach for genetic discovery in schizophrenia combined with functional analysis using induced pluripotent stem cells (iPSCs). We observed familial segregation of two rare missense mutations in Chondroitin Sulfate Proteoglycan 4 (CSPG4) (c.391G > A [p.A131T], MAF 7.79 × 10
Indexed as
AdultAntigensCell DifferentiationChondroitin Sulfate Proteoglycan 4Chondroitin Sulfate ProteoglycansDiffusion Tensor ImagingFamilyFemaleHumansInduced Pluripotent Stem CellsMaleMembrane ProteinsMutationOligodendrocyte Precursor CellsOligodendrogliaPedigreeAntigensChondroitin Sulfate Proteoglycan 4Chondroitin Sulfate ProteoglycansCSPG4 protein, humanMembrane ProteinsProteoglycans
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