| Autor: |
Cleber A. Trujillo, Katerina Semendeferi, Branka Hrvoj-Mihic, Mauro F.C. Lins, Priscilla D. Negraes, Alysson R. Muotri |
| Rok vydání: |
2016 |
| Předmět: |
|
| DOI: |
10.1016/b978-0-12-800105-9.00008-1 |
| Popis: |
Mutations that alter gene expression or protein function can result in or contribute to neurological and psychiatric conditions such as intellectual disability and autism spectrum disorders. Successful reprogramming of adult somatic cells can lead to the generation of stem cell lines from patients who have these genetically based diseases. Patient-specific induced pluripotent stem cells (iPSCs) also represent a valuable tool to unveil the mechanisms of neurological disorders and test potential drug treatments. iPSCs can generate human neurons to evaluate whether the affected genome is associated with specific cellular phenotypes in a manner similar to that predicted by the clinical data or other models. This chapter will explore conceptual and scientific advances in an understanding of the genetics and genomics of neurodevelopmental disorders and the potential that iPSC technology brings to disease modeling. We focus on exploring the links among different fields, from genomics to neurological disorders, translational science, and drug screening, using iPSC technology as a tool to understand neurodevelopmental disorders. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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