Failure of neuronal homeostasis results in common neuropsychiatric phenotypes
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Failure of normal brain development leads to mental retardation or autism in about 3% of children. Many genes integral to pathways by which synaptic modification and the remodelling of neuronal networks mediate cognitive and social development have been identified, usually through loss of function. Evidence is accumulating, however, that either loss or gain of molecular functions can be deleterious to the nervous system. Copy-number variation, regulation of gene expression by non-coding RNAs and epigenetic changes are all mechanisms by which altered gene dosage can cause the failure of neuronal homeostasis.
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Abnormal neuronal homeostasis is a risk factor for ASD.
“In a subset of patients with ASD, mutations of genes related to synaptic function have been identified, suggesting that abnormal neuronal homeostasis is a risk factor for ASD 1,2 .”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [1]
In a subset of patients with ASD, mutations of genes related to synaptic function have been identified.
“In a subset of patients with ASD, mutations of genes related to synaptic function have been identified, suggesting that abnormal neuronal homeostasis is a risk factor for ASD 1,2 .”
From Progress toward treatments for synaptic defects in autism (2013) · cites this paper as [1]
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- Authors
- Ramocki, M. B., & Zoghbi, H. Y.
- Affiliations
- Baylor College of Medicine (US)
- ORCID
- Zoghbi, Huda Y.
- Venue
- Nature
- Published
- 2008-10
- Volume
- 455
- Issue
- 7215
- Pages
- 912-918
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- PMC
- PMC2696622
- OpenAlex
- W2005800358
- Cited by
- 399
- References
- 70
- Citations by year
- 2026: 4 · 2025: 14 · 2024: 10 · 2023: 15 · 2022: 21 · 2021: 16 · 2020: 19 · 2019: 19 · 2018: 20 · 2017: 17 · 2016: 20 · 2015: 24 · 2014: 32 · 2013: 28 · 2012: 52
- FWCI
- 2.75
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- National Institute of Neurological Disorders and Stroke (L40 NS060540, T32 NS 43124, T32NS043124, K08NS062711, R01NS057819)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Neuroscience and Neuropharmacology Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neuronal homeostasis, neuropsychiatric phenotypes, intellectual disability, autism spectrum disorder, brain development, synaptic plasticity, copy number variation, non-coding RNA, epigenetic regulation, gene dosage, gain-of-function mutations, loss-of-function mutations
- MeSH terms
- Animals, Mental Disorders, Cytoskeleton, Gene Expression Regulation, Homeostasis, Humans, Neurons, Synapses
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