ArticleProceedings of the National Academy of Sciences of the United States of America2010
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 215 papers, 8 of them syntheses that pooled it.
What it found
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Who cites it
215 citing papers in PubMed, 8 syntheses or guidelines pooled it, 379 citations in OpenAlex.
- Phelan-McDermid syndrome-associated psychosis: a systematic review.Acta neuropsychiatrica · 2024Pooled it
- Pooled it
- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature.Molecular autism · 2019Pooled it
- Genetic variability in scaffolding proteins and risk for schizophrenia and autism-spectrum disorders: a systematic review.Journal of psychiatry & neuroscience : JPN · 2018Pooled it
- Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.European journal of human genetics : EJHG · 2018Pooled it
- Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.PLoS genetics · 2014Pooled it
- Distribution of disease-associated copy number variants across distinct disorders of cognitive development.Journal of the American Academy of Child and Adolescent Psychiatry · 2013Pooled it
- De novo mutation in schizophrenia.Schizophrenia bulletin · 2012Pooled it
- Article
- Extracellular vesicles from stem cells rescue cellular phenotypes and behavioral deficits in SHANK3-associated ASD neuronal and mouse models.Cell death & disease · 2026Article
- Zebrafish in neurodevelopmental disorders studies: Genetic models and pathological involvement of microglia.Developmental medicine and child neurology · 2025Review
- Comprehensive behavioral characterization and impaired hippocampal synaptic transmission in R1117X Shank3 mutant mice.Translational psychiatry · 2025Article
- Thyroid Hormone Dynamics and DIO2 Variants in Schizophrenia: Exploring Genetic Links to Neuroendocrine Imbalance.Journal of cellular and molecular medicine · 2025Article
- Zebrafish as a tool for autism research: unraveling the roles of Shank3, Cntnap2, Neuroligin3, and Arid1b in synaptic and behavioral abnormalities.Neurogenetics · 2025Review
- Gut microbiota diversity is altered in a sex-dependent manner in Shank3B heterozygote mice.Frontiers in microbiomes · 2025Article
- Intestinal Microbiota Is a Key Target for Load Swimming to Improve Anxiety Behavior and Muscle Strength in Shank 3Molecular neurobiology · 2024Article
- Exploring the Landscape of Pre- and Post-Synaptic Pediatric Disorders with Epilepsy: A Narrative Review on Molecular Mechanisms Involved.International journal of molecular sciences · 2024Review
- Human stem cell-based models to study synaptic dysfunction and cognition in schizophrenia: A narrative review.Schizophrenia research · 2024Review
- Shank3 mutation impairs glutamate signaling and myelination in ASD mouse model and human iPSC-derived OPCs.Science advances · 2024Article
- Clinical, developmental and serotonemia phenotyping of a sample of 70 Italian patients with Phelan-McDermid Syndrome.Journal of neurodevelopmental disorders · 2024Article
155 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
30 authors at 13 institutions in 3 countries.
Funding
Abstract
Schizophrenia likely results from poorly understood genetic and environmental factors. We studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 schizophrenia patients with unaffected parents. Two de novo mutations (R1117X and R536W) were identified in two families, one being found in three affected brothers, suggesting germline mosaicism. Zebrafish and rat hippocampal neuron assays revealed behavior and differentiation defects resulting from the R1117X mutant. As mutations in SHANK3 were previously reported in autism, the occurrence of SHANK3 mutations in subjects with a schizophrenia phenotype suggests a molecular genetic link between these two neurodevelopmental disorders.
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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.