Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia
| Autor: | Luigi Carlessi, Elena Fusar Poli, Domenico Delia |
|---|---|
| Rok vydání: | 2013 |
| Předmět: |
DNA damage
Induced Pluripotent Stem Cells Cell Cycle Proteins Ataxia Telangiectasia Mutated Proteins Protein Serine-Threonine Kinases Biology Models Biological General Biochemistry Genetics and Molecular Biology Ataxia Telangiectasia Neural Stem Cells medicine Humans Induced pluripotent stem cell Cells Cultured Induced stem cells Myocardium Tumor Suppressor Proteins Neurodegeneration Brain medicine.disease Neural stem cell DNA-Binding Proteins Neuroepithelial cell Nerve Degeneration Ataxia-telangiectasia Oxidation-Reduction Neuroscience DNA Damage |
| Zdroj: | Experimental Biology and Medicine. 238:301-307 |
| ISSN: | 1535-3699 1535-3702 |
| DOI: | 10.1177/1535370213480703 |
| Popis: | The ataxia telangiectasia mutated (ATM) kinase is a key transducer of the cellular response to DNA double strand breaks and its deficiency causes ataxia-telangiectasia (A-T), a pleiotropic genetic disorder primarily characterized by cerebellar neuropathy, immunodeficiency and cancer predisposition. While enormous progress has been achieved in elucidating the biochemical and functional regulation of ATM in DNA damage response, and more recently in redox signalling and antioxidant defence, the factors that make neurons in A-T extremely vulnerable remain unclear. Given also that ATM knockout mice do not recapitulate the central nervous system phenotype, a number of human neural stem cell (hNSC) model systems have been developed to provide insights into the mechanisms of neurodegeneration associated with ATM dysfunction. Here we review the hNSC systems developed by us an others to model A-T. |
| Databáze: | OpenAIRE |
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