ArticleProceedings of the National Academy of Sciences of the United States of America1998
Loss of function of the tuberous sclerosis 2 tumor suppressor gene results in embryonic lethality characterized by disrupted neuroepithelial growth and development.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 107 citations in OpenAlex.
- mTORC1 activation induces B7-H3-dependent metabolic reprogramming in renal cell carcinoma (RCC).Oncogene · 2026Article
- Cell Type-Specific mTORC1 Signaling and Translational Control in Synaptic Plasticity and Memory.Journal of neurochemistry · 2025Review
- The Role of mTOR Signaling in Tumor-Induced Alterations to Neuronal Function in Diffusely Infiltrating Glioma.Biomedicines · 2025Review
- Behavioral phenotyping identifies autism-like repetitive stereotypies in a Tsc2 haploinsufficient rat model.Behavioral and brain functions : BBF · 2025Article
- Signaling pathway regulators in preimplantation embryos.Journal of molecular histology · 2024Review
- Modeling genetic mosaicism of the mammalian target of rapamycin pathway in the cerebral cortex.Frontiers in mammal science · 2023Article
- Review
- Nutrients in the fate of pluripotent stem cells.Cell metabolism · 2021Review
- Effects of Mutations in TSC Genes on Neurodevelopment and Synaptic Transmission.International journal of molecular sciences · 2021Review
- mTOR inhibitor improves autistic-like behaviors related to Tsc2 haploinsufficiency but not following developmental status epilepticus.Journal of neurodevelopmental disorders · 2021Article
- Revisiting Brain Tuberous Sclerosis Complex in Rat and Human: Shared Molecular and Cellular Pathology Leads to Distinct Neurophysiological and Behavioral Phenotypes.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Review
- Choosing The Right Animal Model for Renal Cancer Research.Translational oncology · 2020Review
- The Neurodevelopmental Pathogenesis of Tuberous Sclerosis Complex (TSC).Frontiers in neuroanatomy · 2020Review
- Tuberous Sclerosis (tsc2+/-) Model Eker Rats Reveals Extensive Neuronal Loss with Microglial Invasion and Vascular Remodeling Related to Brain Neoplasia.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2020Article
- Mechanistic Target of Rapamycin Pathway in Epileptic Disorders.Journal of Korean Neurosurgical Society · 2019Article
- Negative Regulation of mTOR Signaling Restricts Cell Proliferation in the Floor Plate.Frontiers in neuroscience · 2019Article
- mTOR signaling in stem and progenitor cells.Development (Cambridge, England) · 2018Review
- Importance of tuberin in carcinogenesis.Oncology letters · 2017Article
- mTOR inhibitor reverses autistic-like social deficit behaviours in adult rats with both Tsc2 haploinsufficiency and developmental status epilepticus.European archives of psychiatry and clinical neuroscience · 2017Article
- Inactivation of Tsc2 in Mesoderm-Derived Cells Causes Polycystic Kidney Lesions and Impairs Lung Alveolarization.The American journal of pathology · 2016Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
Abstract
Germline defects in the tuberous sclerosis 2 (TSC2) tumor suppressor gene predispose humans and rats to benign and malignant lesions in a variety of tissues. The brain is among the most profoundly affected organs in tuberous sclerosis (TSC) patients and is the site of development of the cortical tubers for which the hereditary syndrome is named. A spontaneous germline inactivation of the Tsc2 locus has been described in an animal model, the Eker rat. We report that the homozygous state of this mutation (Tsc2(Ek/Ek)) was lethal in mid-gestation (the equivalent of mouse E9.5-E13.5), when Tsc2 mRNA was highly expressed in embryonic neuroepithelium. During this period homozygous mutant Eker embryos lacking functional Tsc2 gene product, tuberin, displayed dysraphia and papillary overgrowth of the neuroepithelium, indicating that loss of tuberin disrupted the normal development of this tissue. Interestingly, there was significant intraspecies variability in the penetrance of cranial abnormalities in mutant embryos: the Long-Evans strain Tsc2(Ek/Ek) embryos displayed these defects whereas the Fisher 344 homozygous mutant embryos had normal-appearing neuroepithelium. Taken together, our data indicate that the Tsc2 gene participates in normal brain development and suggest the inactivation of this gene may have similar functional consequences in both mature and embryonic brain.
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