Proliferation and differentiation deficits are a major convergence point for neurodevelopmental disorders
Abstract
Several lines of evidence suggest that proliferation and differentiation in neural stem cells (NSCs) are a major convergence point of neurodevelopmental disorders (NDDs). Most genes with truncating mutations are implicated in NSC proliferation and differentiation (e.g., MBD5, CDKL5, and MECP2). Similarly, reciprocal deletion/duplication copy-number variants (CNVs), such as 1q21.1 and 16p11.2, are inversely correlated with head size. In addition, pathways such as MAPK, mTOR, and RAS, which are important in cancer, a disease of uncontrolled cell proliferation, are implicated in NDDs. These deficits are a measurable output of patient-derived induced neural progenitor cells, and may represent a diagnostic tool and a possible clinical intervention point for molecular therapies, irrespective of genotype.
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Regulation of cell-proliferation pathways in the developing brain is another point of convergence in ASD, specifically mTOR, MAPK, and Wnt signaling.
“The regulation of cell-proliferation pathways in the developing brain has become another point of convergence in ASD (Ernst, 2016), specifically mammalian target of rapamycin (mTOR), mitogen activated protein kinase (MAPK) and Wnt signaling.”
From Getting to the cores of autism (2019) · cites this paper as Ernst, 2016
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Schönewolf‐Greulich, B., Ravn, K., Hamborg-Petersen, B., et al. (2013) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.36099 · Cited by 14 · see citing works
Purine metabolism in two human melanoma cell lines
Wei, S., Reillaudou, M., Apiou, F., et al. (1999) · Melanoma Research · doi:10.1097/00008390-199908000-00003 · Cited by 11 · see citing works
Martínez‐Cerdeño, V., Cunningham, C. L., Camacho, J. J., et al. (2015) · The Journal of Comparative Neurology · doi:10.1002/cne.23949 · Cited by 5 · see citing works
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Getting to the cores of autism
Iakoucheva, L. M., Muotri, A. R., & Sebat, J. (2019) · Cell · doi:10.1016/j.cell.2019.07.037 · Cited by 260 · see citing works
“Convergence of ASD Genes within Cell Signaling Pathways The regulation of cell-proliferation pathways in the developing brain has become another point of convergence in ASD (Ernst, 2016), specifically mammalian target of rapamycin (mTOR), mitogen activated protein kinase (MAPK) andWnt signaling.”
BackgroundGabriele, M., Lopez Tobon, A., D'Agostino, G., & Testa, G. (2018) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/j.pnpbp.2017.12.013 · Cited by 103 · see citing works
Micali, N., Kim, S.-K., Diaz-Bustamante, M., Stein-O’Brien, G., Seo, S., Shin, J.-H., Rash, B. G., Ma, S., Wang, Y., Olivares, N. A., et al. (2020) · Cell Reports · doi:10.1016/j.celrep.2020.107599 · Cited by 31 · see citing works
- Authors
- Ernst, C.
- Affiliations
- Douglas Mental Health University Institute (CA)
- Corresponding author
- Ernst, Carl
- ORCID
- Ernst, Carl
- Venue
- Trends in Neurosciences
- Publisher
- Elsevier BV
- Published
- 2016-05
- Volume
- 39
- Issue
- 5
- Pages
- 290-299
- ISSN
- 0166-2236 (ISSN-L)
- OpenAlex
- W2327446251
- Cited by
- 145
- References
- 94
- Citations by year
- 2026: 10 · 2025: 18 · 2024: 13 · 2023: 8 · 2022: 18 · 2021: 8 · 2020: 25 · 2019: 15 · 2018: 14 · 2017: 15 · 2016: 1
- FWCI
- 2.00
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Trends in Neurosciences (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Life Sciences › Neuroscience › Developmental Neuroscience › Neurogenesis and neuroplasticity mechanisms
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomic variations and chromosomal abnormalities
- Keywords
- neurodevelopmental disorders, neural stem cell proliferation, neural stem cell differentiation, copy number variation, truncating mutations, MBD5, CDKL5, MeCP2, 1q21.1, 16p11.2, head size, MAPK signaling, mTOR signaling, Ras signaling, molecular diagnosis, molecular therapy
- MeSH terms
- Cell Differentiation, Humans, Cell Proliferation, Neural Stem Cells, Neurodevelopmental Disorders
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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