The DOI matches its Crossref record; 218 of the 218 references it cites were found in a registry or an index.
The tuberous sclerosis complex
Open accessAbstract
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder that results from mutations in the TSC1 or TSC2 genes and is associated with hamartoma formation in multiple organ systems. The neurological manifestations of TSC are particularly challenging and include infantile spasms, intractable epilepsy, cognitive disabilities, and autism. Progress over the past 15 years has demonstrated that the TSC1 or TSC2 encoded proteins modulate cell function via the mTOR signaling cascade and serve as keystones in regulating cell growth and proliferation. The mTOR pathway provides an intersection for an intricate network of protein cascades that respond to cellular nutrition, energy levels, and growth‐factor stimulation. In the brain, TSC1 and TSC2 have been implicated in cell body size, dendritic arborization, axonal outgrowth and targeting, neuronal migration, cortical lamination, and spine formation. Antagonism of the mTOR pathway with rapamycin and related compounds may provide new therapeutic options for TSC patients.
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1 retracted
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Retractedp53, the cellular gatekeeper for growth and division
Levine, A. J. (1997) · Cell · doi:10.1016/s0092-8674(00)81871-1 · Cited by 7,693
Mutation and cancer: statistical study of retinoblastoma
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Phosphorylation and regulation of Akt/PKB by the rictor-mTOR complex
Sarbassov, D. D., Guertin, D. A., Ali, S. M., & Sabatini, D. M. (2005) · Science · doi:10.1126/science.1106148 · Cited by 6,216
AKT/PKB signaling: navigating downstream
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TOR signaling in growth and metabolism
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HIFα Targeted for VHL-Mediated Destruction by Proline Hydroxylation: Implications for O 2 Sensing
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TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
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Cited by
Akt Signaling Pathway in Macrophage Activation and M1/M2 Polarization
Vergadi, E., Ieronymaki, E., Lyroni, K., Vaporidi, K., & Tsatsanis, C. (2017) · The Journal of Immunology · doi:10.4049/jimmunol.1601515 · Cited by 1,148
Zoghbi, H. Y., & Bear, M. F. (2012) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a009886 · Cited by 797
Cytokine dysregulation in autism spectrum disorders (ASD): Possible role of the environment
Goines, P. E., & Ashwood, P. (2013) · Neurotoxicology and Teratology · doi:10.1016/j.ntt.2012.07.006 · Cited by 314
mTOR: A pathogenic signaling pathway in developmental brain malformations
Crino, P. B. (2011) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2011.07.008 · Cited by 266
Self-citationSexually divergent induction of microglial-associated neuroinflammation with hippocampal aging
Mangold, C. A., Wronowski, B., Du, M., Masser, D. R., Hadad, N., Bixler, G. V., Brucklacher, R. M., Ford, M. M., Sonntag, W. E., & Freeman, W. M. (2017) · Journal of Neuroinflammation · doi:10.1186/s12974-017-0920-8 · Cited by 203
Metadata
- Authors
- Orlova, K. A., & Crino, P. B.
- Venue
- Annals of the New York Academy of Sciences
- Publisher
- Wiley
- Published
- 2010-01
- Volume
- 1184
- Issue
- 1
- Pages
- 87-105
- ISSN
- 0077-8923 (ISSN-L)
- 1749-6632
- OpenAlex
- W2076174029
- Cited by
- 401
- References
- 218
- FWCI
- 17.32
- Type
- journal article
- Language
- en
- Open access
- green
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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.
