The DOI matches its Crossref record; 73 of the 73 references it cites were found in a registry or an index.
Mice with Shank3 Mutations Associated with ASD and Schizophrenia Display Both Shared and Distinct Defects
Open accessAbstract
Genetic studies have revealed significant overlaps of risk genes among psychiatric disorders. However, it is not clear how different mutations of the same gene contribute to different disorders. We characterized two lines of mutant mice with Shank3 mutations linked to ASD and schizophrenia. We found both shared and distinct synaptic and behavioral phenotypes. Mice with the ASD-linked InsG3680 mutation manifest striatal synaptic transmission defects before weaning age and impaired juvenile social interaction, coinciding with the early onset of ASD symptoms. On the other hand, adult mice carrying the schizophrenia-linked R1117X mutation show profound synaptic defects in prefrontal cortex and social dominance behavior. Furthermore, we found differential Shank3 mRNA stability and SHANK1/2 upregulation in these two lines. These data demonstrate that different alleles of the same gene may have distinct phenotypes at molecular, synaptic, and circuit levels in mice, which may inform exploration of these relationships in human patients.
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“alongside direct genetic evidence that links ASD and schizophrenia (Cantor and Geschwind, 2008;Ellis et al, 2016;Zhou et al, 2016).”
From The Role of the Immune System in Autism Spectrum Disorder (2017) · cites this paper as Zhou et al, 2016
In the citing paper
“Genetically modified animal models also can be used to distinguish the disease-specific pathways that are affected in ASD when the same gene is known to cause other neuropsychiatric disorders such as schizophrenia and bipolar disease, as is the case for SHANK3”
From Autism spectrum disorder: neuropathology and animal models (2017) · cites this paper as [398]
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Cites
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SHANK proteins: roles at the synapse and in autism spectrum disorder
Monteiro, P., & Feng, G. (2017) · Nature Reviews Neuroscience · doi:10.1038/nrn.2016.183 · Cited by 681
Self-citationAutism spectrum disorder: neuropathology and animal models
Varghese, M., Keshav, N., Jacot-Descombes, S., Warda, T., Wicinski, B., Dickstein, D. L., Harony-Nicolas, H., De Rubeis, S., Drapeau, E., Buxbaum, J. D., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1736-4 · Cited by 536
The Role of the Immune System in Autism Spectrum Disorder
Meltzer, A., & Van de Water, J. (2017) · Neuropsychopharmacology · doi:10.1038/npp.2016.158 · Cited by 533
Dendritic structural plasticity and neuropsychiatric disease
Forrest, M. P., Parnell, E., & Penzes, P. (2018) · Nature Reviews Neuroscience · doi:10.1038/nrn.2018.16 · Cited by 464
Microglia Require CD4 T Cells to Complete the Fetal-to-Adult Transition
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Metadata
- Authors
- Zhou, Y., Kaiser, T., Monteiro, P., Zhang, X., Van der Goes, M. S., Wang, D., Barak, B., Zeng, M., Li, C., Lu, C., Wells, M., Amaya, A., Nguyen, S., Lewis, M., Sanjana, N., Zhou, Y., Zhang, M., Zhang, F., Fu, Z., & Feng, G.
- Affiliations
- McGovern Institute for Brain Research (US)
- Broad Institute (US)
- Hong Kong University of Science and Technology (HK)
- Corresponding author
- Feng, Guoping
- ORCID
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2016-01
- Volume
- 89
- Issue
- 1
- Pages
- 147-162
- ISSN
- 0896-6273 (ISSN-L)
- PMC
- PMC4754122
- OpenAlex
- W2196375380
- Cited by
- 325
- References
- 73
- Citations by year
- 2026: 18 · 2025: 28 · 2024: 26 · 2023: 24 · 2022: 41 · 2021: 28 · 2020: 41 · 2019: 35 · 2018: 33 · 2017: 34 · 2016: 16
- FWCI
- 19.25
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Neuron (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-nd)
- Rare & Special e-Zone (The Hong Kong University of Science and Technology) (submittedVersion)
- Funders
- Simons Center for the Social Brain at MIT
- Stanley Center for Psychiatric Research at Broad Institute
- National Institute of Mental Health (5R01MH097104)
- Poitras Center for Affective Disorders Research at MIT
- Nancy Lurie Marks Family Foundation
- Simons Foundation Autism Research Initiative
- Shenzhen Overseas Innovation Team Project (KQTD20140630180249366)
- Stanley Center for Psychiatric Research at the Broad Institute
- Portuguese Foundation for Science and Technology (SFRH/BD/33894/2009)
- Autism Science Foundation
- Research Grant Council of Hong Kong (AoE/M09/12)
- Brain & Behavior Research Foundation
- Dr. Ernst und Anita Bauer-Stiftung
- Henry E. Singleton Fellowship
- NIMH (DP1-MH100706)
- NINDS (R01-NS 07312401)
- NSF Waterman Award
- Keck
- Damon Runyon
- Searle Scholars
- Klingenstein
- Vallee
- Merkin
- Simons Foundations
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Keywords
- SHANK3, autism spectrum disorder, schizophrenia, mouse model, synaptic transmission, striatum, prefrontal cortex, social interaction, social dominance, mRNA stability
- MeSH terms
- Autism Spectrum Disorder, Aging, Animals, Behavior, Animal, Disease Models, Animal, Hippocampus, Mice, Transgenic, Microfilament Proteins, Mutation, Nerve Tissue Proteins, Synaptic Transmission, Neurons, Schizophrenia, Social Behavior
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