Increased Gene Dosage of Ube3a Results in Autism Traits and Decreased Glutamate Synaptic Transmission in Mice
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Tripling the dosage of an autism- and Angelman syndrome–related gene in mice results in reduced glutamatergic synaptic transmission and autism behavioral traits.
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Studies aimed at modeling the core phenotypes associated with ASDs in animals have focused on studying social and repetitive behaviors in mice and pair-bonding behaviors in the prairie vole.
“Studies aimed at modeling, in animals, the core phenotypes associated with ASDs have focused on studying social and repetitive behaviors in mice [530-532] and pair-bonding behaviors in the prairie vole (Microtus ochrogaster) [533,534].”
From Reward circuitry dysfunction in psychiatric and neurodevelopmental disorders and genetic syndromes: animal models and clinical findings (2012) · cites this paper as [532]
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References 64 · Cited by 267
- Authors
- Smith, S. E. P., Zhou, Y.-D., Zhang, G., Jin, Z., Stoppel, D. C., & Anderson, M. P.
- Affiliations
- Beth Israel Deaconess Medical Center (US)
- Beth Israel Deaconess Medical Center, Departments of Pathology and Neurology, Harvard Medical School, Boston, MA 02215, USA.
- Corresponding author
- Anderson, Matthew P.
- Venue
- Science Translational Medicine
- Published
- 2011-10-05
- Volume
- 3
- Issue
- 103
- Pages
- 103ra97-103ra97
- ISSN
- 1946-6234 (ISSN-L)
- 1946-6242
- PMC
- PMC3356696
- OpenAlex
- W2153306606
- Cited by
- 267
- References
- 64
- Citations by year
- 2026: 9 · 2025: 9 · 2024: 18 · 2023: 16 · 2022: 15 · 2021: 17 · 2020: 30 · 2019: 12 · 2018: 22 · 2017: 19 · 2016: 12 · 2015: 29 · 2014: 15 · 2013: 22 · 2012: 21
- FWCI
- 11.77
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science Translational Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Mental Health (F32MH087085)
- National Institute of Neurological Disorders and Stroke (R21NS070295, K02NS054674, R01NS081916, R01NS057444)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cognitive Neuroscience › Autism Spectrum Disorder Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- UBE3A, autism spectrum disorder, gene dosage, copy number variation, excitatory synaptic transmission, social interaction, communication difficulties, presynaptic release probability, E3 ubiquitin ligase, mouse model
- MeSH terms
- Animals, Autistic Disorder, Electrophysiology, Mice, Transgenic, Synaptic Transmission, Glutamic Acid, Ubiquitin-Protein Ligases, Mice
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