Neurodevelopmental disorders : employing iPSC technologies to define and treat childhood brain diseases /: employing iPSC technologies to define and treat childhood brain diseases. (2020)

• Record Type: Book
• Further Information: Note: Emanuel DiCicco-Bloom, James H. Millonig, editors.
• Other Names: DiCicco-Bloom, Emanuel; Millonig, James H
• Contents: Intro -- Contents -- About the Editors -- Modeling Neurodevelopmental Deficits in Tuberous Sclerosis Complex with Stem Cell Derived Neural Precursors and Neurons -- 1 Background of Tuberous Sclerosis Complex -- 1.1 Neurology of TSC -- 1.2 mTORC1 and mTORC2 -- 2 Neural Stem Cell Development in TSC -- 2.1 TSC2 Deficiency in hESCs and hiPSCs -- 2.2 Effects of mTORC1 Pathway Activation in Human Neural Stem Cell Proliferation -- 2.3 Differentiation Capacity and Morphological Development of TSC-Deficient Stem Cell Derived NPCs -- 2.4 Abnormal Purkinje Cell Differentiation of TSC2-Deficient hiPSCs 3 Gliosis and Myelination in TSC -- 3.1 Astrocyte Differentiation from TSC-Deficient Neural Precursor Cells -- 3.2 Development of Oligodendrocytes and Myelination Deficits in TSC -- 4 Cellular Homeostasis and Viability in TSC -- 4.1 Mitochondrial Dysfunction in TSC -- 4.2 Autophagy in TSC -- 5 Autism and Epilepsy in TSC -- 5.1 MTOR-Pathway in Autism and Epilepsy -- 5.2 Tsc-Deficient Rodent Models of Epilepsy and Autism -- 5.3 Genes Associated with Neural Differentiation and Synaptic Development in TSC2-Deficient Human Neurons 5.4 Synaptic Function and Excitability of TSC2-Deficient Human Neurons -- 6 Future Prospects -- 6.1 Pharmacological Treatment of Neurological Deficits in TSC -- 6.2 Drug Screening Assays in TSC2-Deficient Human Neurons -- References -- Advances in Human Stem Cells and Genome Editing to Understand and Develop Treatment for Fragile X Syndrome -- 1 Introduction -- 2 Unique and Complex Genetics of FXS -- 2.1 CGG Expansion of the Human FMR1 Gene -- 2.2 Epigenetic Silencing of the Human FMR1 Gene -- 3 Human Pluripotent Stem Cells Models for FXS 3.1 Unique Features of Human Genetics and Neural Development Require Human FXS Models -- 3.2 Human Pluripotent Stem Cells as a Platform to Understand the Pathogenesis of FXS -- 3.3 Human PSCs for Understanding FMR1 Silencing in FXS -- 4 Human PSCS for Targeting FMR1 Gene Reactivation for Treating FXS -- 4.1 Rationale for FMR1 Gene Restoration as a Potential Therapy -- 4.2 FMR1 Gene Restoration Strategies by Targeting Known Pathways -- 4.3 Search for Novel FMR1 Gene Restoration Strategies Using High-Throughput Screening of Chemicals -- 4.4 FMR1 Gene Reactivation by Genetic Targeting of CGG Repeats 5 Summary: Challenges and Perspectives -- References -- IPSC Models of Chromosome 15Q Imprinting Disorders: From Disease Modeling to Therapeutic Strategies -- 1 Prader-Willi Syndrome -- 2 Angelman Syndrome -- 3 15q11-q13 Duplication -- 4 Special Considerations for Disease Models of Imprinting Disorders -- 5 Physiological and Morphological Phenotypes -- 5.1 Cellular Phenotypes in Angelman Syndrome-Derived Neurons -- 5.2 Cellular Phenotypes in Dup15q Syndrome-Derived Neurons -- 5.3 Cellular Phenotypes in Prader-Willi Syndrome-Derived Neurons
• Publisher Details: Cham : Springer
• Publication Date: 2020
• Copyright Date: 2020
• Extent: 1 online resource (305 pages)
• Subjects: 618.92/8; 612.8; Pediatric neurology -- Diagnosis; Brain -- Diseases; Neurosciences; Medical -- Neuroscience; Neurosciences; Electronic books; Electronic books
• Languages: English
• ISBNs: 9783030454937
• Related ISBNs: 9783030454920
• Access Rights: Legal Deposit; Only available on premises controlled by the deposit library and to one user at any one time; The Legal Deposit Libraries (Non-Print Works) Regulations (UK).
• Access Usage: Restricted: Printing from this resource is governed by The Legal Deposit Libraries (Non-Print Works) Regulations (UK) and UK copyright law currently in force.