ArticleNature neuroscience2019
SHANK2 mutations associated with autism spectrum disorder cause hyperconnectivity of human neurons.
Article in Nature neuroscience, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 114 papers, 2 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
114 citing papers in PubMed, 2 syntheses or guidelines pooled it, 170 citations in OpenAlex.
- The utility of animal models in hiPSC-based studies of autism spectrum disorder: a systematic review.Einstein (Sao Paulo, Brazil) · 2026Pooled it
- Uncovering convergence and divergence between autism and schizophrenia using genomic tools and patients' neurons.Molecular psychiatry · 2025Pooled it
- Frequently amplified SHANK2 promotes esophageal squamous cell carcinoma progression through the DVL/YAP axis.Oncogene · 2026Article
- Multi-organ proteomic atlas of obesity regression in male mice.Nature metabolism · 2026Article
- Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders.Molecular psychiatry · 2026Article
- Glycine-modulating Slc6a20a-ASO restores NMDA receptor function in SHANK2 and SHANK3-mutant mice and cortical organoids.Nature communications · 2026Article
- GLIS3 marks a neural-like progenitor cell state that drives metastasis in pancreatic ductal adenocarcinoma.Cell reports · 2026Article
- Modelling synaptic dysfunction in childhood dementia using human iPSC-derived cortical networks.Nature communications · 2026Article
- Genetic Variants from Large Cohorts and Familial Studies Implicate Common Mechanisms in Schizophrenia.Biology · 2026Review
- The emerging role of gene therapy in autism spectrum disorder.Discover mental health · 2026Review
- Distinct synaptic mechanisms underlie NRXN1 variant and disorder background-dependent phenotypes in iPSC-derived neurons.Cell reports · 2026Article
- Inflammation-induced impairment of synaptic plasticity accelerates atherosclerosis co-depression disease: insights from bioinformatics analysis and transcriptomics.Cell & bioscience · 2026Article
- Convergent thyroid-ATPase interactions regulate collective behavior in Danionella.Cell reports · 2026Article
- Linking auditory brain responses to cortical microstructure and sensory behaviors in autism spectrum disorder: a preliminary study.Frontiers in psychiatry · 2026Article
- Hypersynchronous iPSC-derived SHANK2 neuronal networks are rescued by mGluR5 agonism.Stem cell reports · 2025Article
- Familial Molecular Burden in Autism Spectrum Disorder: A Next-Generation Sequencing Study of Polish Affected Families.International journal of molecular sciences · 2025Article
- Distinct Synaptic Mechanisms DrivebioRxiv : the preprint server for biology · 2025Article
- doc2a and doc2b contribute to locomotor and social behaviors by down-regulating npas4b in zebrafish.BMC biology · 2025Article
- Review
- Clinical utility of genome sequencing in autism: illustrative examples from a genomic research study.Journal of medical genetics · 2025Article
54 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 4 institutions in 2 countries.
Funding
Abstract
Heterozygous loss-of-function mutations in SHANK2 are associated with autism spectrum disorder (ASD). We generated cortical neurons from induced pluripotent stem cells derived from neurotypic and ASD-affected donors. We developed sparse coculture for connectivity assays where SHANK2 and control neurons were differentially labeled and sparsely seeded together on a lawn of unlabeled control neurons. We observed increases in dendrite length, dendrite complexity, synapse number, and frequency of spontaneous excitatory postsynaptic currents. These findings were phenocopied in gene-edited homozygous SHANK2 knockout cells and rescued by gene correction of an ASD SHANK2 mutation. Dendrite length increases were exacerbated by IGF1, TG003, or BDNF, and suppressed by DHPG treatment. The transcriptome in isogenic SHANK2 neurons was perturbed in synapse, plasticity, and neuronal morphogenesis gene sets and ASD gene modules, and activity-dependent dendrite extension was impaired. Our findings provide evidence for hyperconnectivity and altered transcriptome in SHANK2 neurons derived from ASD subjects.
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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.