ArticleMolecular brain2015
Human induced pluripotent stem cell derived neurons as a model for Williams-Beuren syndrome.
Article in Molecular brain, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Neural excitation/inhibition imbalance and neurodevelopmental pathology in human copy number variant syndromes: a systematic review.Journal of neurodevelopmental disorders · 2025Pooled it
- Modeling Williams syndrome from a neurodevelopmental perspective: recent advances, model-based translational insights and future directions.World journal of pediatrics : WJP · 2026Review
- Metabolomic profiles in serum uncover novel biomarkers in children with Williams-Beuren syndrome.Scientific reports · 2025Article
- Altered trial-to-trial responses to reward outcomes in KCNMA1 knockout mice during probabilistic learning tasks.Behavioral and brain functions : BBF · 2024Article
- Article
- Modeling common and rare genetic risk factors of neuropsychiatric disorders in human induced pluripotent stem cells.Schizophrenia research · 2024Review
- Multiscale modeling uncovers 7q11.23 copy number variation-dependent changes in ribosomal biogenesis and neuronal maturation and excitability.The Journal of clinical investigation · 2024Article
- The Potential Role of Thyroid Hormone Therapy in Neural Progenitor Cell Differentiation and Its Impact on Neurodevelopmental Disorders.Molecular neurobiology · 2024Article
- Modelling phenotypes, variants and pathomechanisms of syndromic diseases in different systems.Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V · 2024Article
- Hyperacusis in the AdultInternational journal of molecular sciences · 2023Article
- Duplication Versus Deletion Through the Lens of 15q13.3: Clinical and Research Implications of Studying Copy Number Variants Associated with Neuropsychiatric Disorders in Induced Pluripotent Stem Cell-Derived Neurons.Stem cell reviews and reports · 2023Review
- Current Application of iPS Cells in the Dental Tissue Regeneration.Biomedicines · 2022Review
- Human Brain Models of Intellectual Disability: Experimental Advances and Novelties.International journal of molecular sciences · 2022Review
- Single Extracellular Vesicle Analysis Using Flow Cytometry for Neurological Disorder Biomarkers.Frontiers in integrative neuroscience · 2022Article
- Williams syndrome.Nature reviews. Disease primers · 2021Review
- Core transcriptional networks in Williams syndrome: IGF1-PI3K-AKT-mTOR, MAPK and actin signaling at the synapse echo autism.Human molecular genetics · 2021Article
- Patient-derived iPSC modeling of rare neurodevelopmental disorders: Molecular pathophysiology and prospective therapies.Neuroscience and biobehavioral reviews · 2021Review
- Co-Treatment With Verapamil and Curcumin Attenuates the Behavioral Alterations Observed in Williams-Beuren Syndrome Mice by Regulation of MAPK Pathway and Microglia Overexpression.Frontiers in pharmacology · 2021Article
- Copy number variants (CNVs): a powerful tool for iPSC-based modelling of ASD.Molecular autism · 2020Review
- A Temperature-Controlled Patch Clamp Platform Demonstrated on Jurkat T Lymphocytes and Human Induced Pluripotent Stem Cell-Derived Neurons.Bioengineering (Basel, Switzerland) · 2020Article
Corrections and comments
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Authors and funding
11 authors at 4 institutions in 1 country.
Funding
Abstract
backgroundWilliams-Beuren Syndrome (WBS) is caused by the microdeletion of approximately 25 genes on chromosome 7q11.23, and is characterized by a spectrum of cognitive and behavioural features.
resultsWe generated cortical neurons from a WBS individual and unaffected (WT) control by directed differentiation of induced pluripotent stem cells (iPSCs). Single cell mRNA analyses and immunostaining demonstrated very efficient production of differentiated cells expressing markers of mature neurons of mixed subtypes and from multiple cortical layers. We found that there was a profound alteration in action potentials, with significantly prolonged WBS repolarization times and a WBS deficit in voltage-activated K(+) currents. Miniature excitatory synaptic currents were normal, indicating that unitary excitatory synaptic transmission was not altered. Gene expression profiling identified 136 negatively enriched gene sets in WBS compared to WT neurons including gene sets involved in neurotransmitter receptor activity, synaptic assembly, and potassium channel complexes.
conclusionsOur findings provide insight into gene dysregulation and electrophysiological defects in WBS patient neurons.
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