The DOI matches its Crossref record; 108 of the 108 references it cites were found in a registry or an index.
From mTOR to cognition: molecular and cellular mechanisms of cognitive impairments in tuberous sclerosis
Open accessAbstract
Background Tuberous sclerosis (TSC) is a multi‐system disorder caused by heterozygous mutations in the TSC1 or TSC2 gene and is often associated with neuropsychiatric symptoms, including intellectual disability, specific neuropsychological deficits, autism, other behavioural disorders and epilepsy. Method Here, we review evidence from animal models of TSC for the role of specific molecular and cellular processes in the pathogenesis of cognitive, developmental and epilepsy‐related manifestations seen in the disorder. Results Recent evidence shows that, in animal models, disinhibited mTOR (mammalian target of rapamycin) signalling substantially contributes to neuropsychiatric phenotypes, including cognitive deficits and seizures. We discuss potential pathogenetic mechanisms involved in the cognitive phenotypes of TSC and present implications regarding mTOR inhibitor‐based treatments for TSC‐related neuropsychiatric features. Conclusions Results suggest that reversing the underlying molecular deficits of TSC with rapamycin or other mTOR inhibitors could result in clinically significant improvements of cognitive function and neurological symptoms, even if treatments are started in adulthood.
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“Frequently associated with deficits in long-term and working memory, along with intellectual disability, ASD, and epilepsy, TSC arises from heterozygous mutations in the TSC1 or TSC2 genes (Ehninger et al., 2009; Ehninger et al., 2008; Kong et al., 2014; Tsai et al., 2012).”
From Unifying Views of Autism Spectrum Disorders: A Consideration of Autoregulatory Feedback Loops (2016) · cites this paper as Ehninger et al., 2009
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TSC2 Mediates Cellular Energy Response to Control Cell Growth and Survival
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TSC2 is phosphorylated and inhibited by Akt and suppresses mTOR signalling
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Prolonged Rapamycin Treatment Inhibits mTORC2 Assembly and Akt/PKB
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Epidemiological Surveys of Autism and Other Pervasive Developmental Disorders: An Update
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Neurological and neuropsychiatric aspects of tuberous sclerosis complex
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Tuberous Sclerosis Associated Neuropsychiatric Disorders (TAND) and the TAND Checklist
de Vries, P. J., Whittemore, V. H., Leclezio, L., Byars, A. W., Dunn, D., Ess, K. C., Hook, D., King, B. H., Sahin, M., & Jansen, A. (2015) · Pediatric Neurology · doi:10.1016/j.pediatrneurol.2014.10.004 · Cited by 371
Metadata
- Authors
- Ehninger, D., De Vries, P. J., & Silva, A. J.
- Affiliations
- University of California, Los Angeles (US)
- Corresponding author
- Ehninger, D.
- Venue
- Journal of Intellectual Disability Research
- Publisher
- Wiley
- Published
- 2009-09-25
- Volume
- 53
- Issue
- 10
- Pages
- 838-851
- ISSN
- 0964-2633 (ISSN-L)
- 1365-2788
- PMC
- PMC2844770
- OpenAlex
- W1981844658
- Cited by
- 120
- References
- 108
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 1 · 2022: 5 · 2020: 3 · 2019: 2 · 2018: 5 · 2017: 6 · 2016: 8 · 2015: 8 · 2014: 9 · 2013: 9 · 2012: 24
- FWCI
- 2.09
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- Journal of Intellectual Disability Research (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Institute of Neurological Disorders and Stroke (R01NS038480)
- Topics
- Health Sciences › Medicine › Genetics (clinical) › Tuberous Sclerosis Complex Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › PI3K/AKT/mTOR signaling in cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- tuberous sclerosis complex, mTOR signaling, cognitive impairment, intellectual disability, epilepsy, neuropsychiatric symptoms, TSC1, TSC2, rapamycin, mTOR inhibitors, animal models, autism spectrum disorder, developmental disorders
- MeSH terms
- Animals, Behavior, Animal, Carrier Proteins, Cognition, Cognition Disorders, Cell Biology, Disease Models, Animal, Epilepsy, Humans, Molecular Biology, Risk Factors, Tuberous Sclerosis, Phosphotransferases (Alcohol Group Acceptor), Mice, Rats, TOR Serine-Threonine Kinases
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