The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Neurodevelopmental Disorders: From Genetics to Functional Pathways
Open accessAbstract
Neurodevelopmental disorders (NDDs) are a class of disorders affecting brain development and function and are characterized by wide genetic and clinical variability. In this review, we discuss the multiple factors that influence the clinical presentation of NDDs, with particular attention to gene vulnerability, mutational load, and the two-hit model. Despite the complex architecture of mutational events associated with NDDs, the various proteins involved appear to converge on common pathways, such as synaptic plasticity/function, chromatin remodelers and the mammalian target of rapamycin (mTOR) pathway. A thorough understanding of the mechanisms behind these pathways will hopefully lead to the identification of candidates that could be targeted for treatment approaches.
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Cites
Transcriptomic Analysis of Autistic Brain Reveals Convergent Molecular Pathology
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Induced pluripotent stem cells (iPSCs): molecular mechanisms of induction and applications
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Self-citationAdvanced in vitro models: Microglia in action
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Metadata
- Authors
- Parenti, I., Rabaneda, L. G., Schoen, H., & Novarino, G.
- Venue
- Trends in Neurosciences
- Publisher
- Elsevier BV
- Published
- 2020-08
- Volume
- 43
- Issue
- 8
- Pages
- 608-621
- ISSN
- 0166-2236 (ISSN-L)
- OpenAlex
- W3033740108
- Cited by
- 618
- References
- 39
- FWCI
- 9.21
- Type
- journal article
- Language
- en
- Open access
- hybrid
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
