Genes, circuits, and precision therapies for autism and related neurodevelopmental disorders
Open accessAbstract
Help for neurodevelopmental disorders: When the brain does not develop normally, the disabilities that ensue can affect a person for life. Sahin and Sur review how emerging knowledge of the molecular biology behind a suite of neurodevelopmental disorders is shedding light on the group as a whole. The new knowledge offers tantalizing leads toward more effective therapies. Science , this issue p. 10.1126/science.aab3897
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Studies on hcASD genes and iPSC-derived ASD neurons highlight signaling pathways that are commonly disrupted, such as PI3K/AKT, RAS/ERK, WNT and β-catenin.
“Consistently, studies on hcASD genes and iPSC-derived ASD neurons highlight signaling pathways that are commonly disrupted, such as PI3K/AKT [79, 80], RAS/ERK [79, 80, 82, 83], WNT and β-catenin [57, 83, 84].”
From The ASD Living Biology: from cell proliferation to clinical phenotype (2019) · cites this paper as [80]
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References 121 · Cited by 295
Research works printed but not linked: 2
- [3]Ganz M Moldin SO Rubenstein JLR Understanding Autism: From Basic Neuroscience to Treatment 2006 Boca Raton, FL Taylor & Francis 475 502
- [44]Darnell JC FMRP stalls ribosomal translocation on mRNAs linked to synaptic function and autism Cell 2011 146 247 261 21784246 PMC3232425
- Authors
- Sahin, M., & Sur, M.
- Affiliations
- F. M. Kirby Center for Neurobiology, Translational Neuroscience Center, Department of Neurology, Boston Children’s Hospital, Boston, MA 02115, USA.
- Massachusetts Institute of Technology (US)
- Corresponding author
- Sur, Mriganka
- ORCID
- Sur, Mriganka
- Venue
- Science
- Published
- 2015-11-20
- Volume
- 350
- Issue
- 6263
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- PMC
- PMC4739545
- OpenAlex
- W2178875440
- Cited by
- 295
- References
- 121
- Citations by year
- 2026: 12 · 2025: 27 · 2024: 28 · 2023: 35 · 2022: 23 · 2021: 26 · 2020: 23 · 2019: 25 · 2018: 38 · 2017: 31 · 2016: 26 · 2015: 1
- FWCI
- 4.05
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Science (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- NSF (EF1451125)
- NIH (MH085802, NS090473, EY007023, U01 NS082320, P20 NS080199, P30 HD018655)
- Department of Defense (W81XWH-13-1-0040)
- Autism Speaks
- Simons Foundation
- Tuberous Sclerosis Alliance
- Novartis
- Boston Children’s Hospital Translational Research Program
- Shire
- Nancy Lurie Marks Family Foundation
- 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, neurodevelopmental disorders, genetic risk factors, neural circuits, synaptic signaling, protein synthesis, transcriptional regulation, epigenetic regulation, cell types, precision medicine, comorbidities
- MeSH terms
- Animals, Autistic Disorder, Behavior, Brain, Clinical Trials as Topic, Genes, Humans, Mutation, Neural Pathways, Transcription, Genetic, Protein Biosynthesis, Genetic Predisposition to Disease, Chromatin Assembly and Disassembly, Epigenesis, Genetic, Mice, Metabolic Networks and Pathways, Translational Research, Biomedical, Precision Medicine, Neurodevelopmental Disorders
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