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• W3037177645 endingPage "31" @default.
• W3037177645 startingPage "1" @default.
• W3037177645 abstract "Tuberous sclerosis complex (TSC) is a rare genetic disorder that is caused by mutations in TSC1 or TSC2. TSC is a multi-organ disorder characterized by development of non-malignant cellular overgrowths, called hamartomas, in different organs of the body. TSC is also characterized as a neurodevelopmental disorder presenting with epilepsy and autism, and formation of cortical malformations (tubers), subependymal giant cell astrocytomas (SEGAs), and subependymal nodules (SENs) in the patient's brain. In this chapter, we are going to give an overview of neural stem cell and neuronal development in TSC. In addition, we will also describe previously developed animal models of TSC that display seizures, autistic-like behaviors, and neuronal cell abnormalities in vivo, and we will compare them to disease phenotypes detected with human stem cell derived neuronal cells in vitro. We will describe the effects of TSC-mutations in different neural cell subtypes, and discuss the mitochondrial function, autophagy, and synaptic development and functional deficits in the neurons. Finally, we will review utilization of these human TSC-patient derived neuronal models for drug screening to develop new treatment options for the neurological phenotypes seen in TSC patients." @default.
• W3037177645 created "2020-07-02" @default.
• W3037177645 creator A5041711882 @default.
• W3037177645 creator A5079691093 @default.
• W3037177645 date "2020-01-01" @default.
• W3037177645 modified "2023-09-23" @default.
• W3037177645 title "Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons" @default.
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