Cellular and synaptic network defects in autism
Open accessAbstract
Many candidate genes are now thought to confer susceptibility to autism spectrum disorders (ASDs). Here we review four interrelated complexes, each composed of multiple families of genes that functionally coalesce on common cellular pathways. We illustrate a common thread in the organization of glutamatergic synapses and suggest a link between genes involved in Tuberous Sclerosis Complex, Fragile X syndrome, Angelman syndrome and several synaptic ASD candidate genes. When viewed in this context, progress in deciphering the molecular architecture of cellular protein-protein interactions together with the unraveling of synaptic dysfunction in neural networks may prove pivotal to advancing our understanding of ASDs.
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Dysregulated mTOR signaling has been identified in autism, Fragile X syndrome, tuberous sclerosis, neurofibromatosis, and PTEN mediated macroencephaly.
“Dysregulated mTOR signaling has been identified in autism, Fragile X syndrome, tuberous sclerosis, neurofibromatosis, and PTEN mediated macroencephaly (Peca et al., 2012; Bourgeron, 2009).”
From Loss of mTOR-Dependent Macroautophagy Causes Autistic-like Synaptic Pruning Deficits (2014) · cites this paper as Peca et al., 2012
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- Authors
- Peça, J., & Feng, G.
- Affiliations
- McGovern Institute for Brain Research (US)
- Broad Institute (US)
- Corresponding author
- Feng, Guoping
- Venue
- Current Opinion in Neurobiology
- Publisher
- Elsevier BV
- Published
- 2012-10
- Volume
- 22
- Issue
- 5
- Pages
- 866-872
- ISSN
- 0959-4388 (ISSN-L)
- PMC
- PMC3407823
- OpenAlex
- W1975150453
- Cited by
- 96
- References
- 74
- Citations by year
- 2026: 1 · 2025: 4 · 2024: 6 · 2023: 6 · 2022: 9 · 2021: 6 · 2020: 3 · 2019: 2 · 2018: 6 · 2017: 6 · 2016: 10 · 2015: 11 · 2014: 7 · 2013: 16 · 2012: 3
- FWCI
- 1.45
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Current Opinion in Neurobiology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- DSpace@MIT (Massachusetts Institute of Technology) (submittedVersion, cc-by-nc-nd)
- Funders
- Harvard University (7649)
- Hartwell Foundation
- National Institute of Mental Health (R01MH081201)
- Broad Institute
- National Institutes of Health
- Simons Foundation Autism Research Initiative
- 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
- autism spectrum disorder, synaptic dysfunction, glutamatergic synapses, tuberous sclerosis complex, fragile X syndrome, Angelman syndrome, protein-protein interaction
- MeSH terms
- Autistic Disorder, Brain, Humans, Nerve Net, Synapses
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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