Brain and induced pluripotent stem cell-derived neural stem cells as an in vitro model of neurodegeneration in ataxia-telangiectasia

Luigi Carlessi, Elena Fusar Poli, Domenico Delia

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)301-307
Number of pages7
JournalExperimental Biology and Medicine
Volume238
Issue number3
DOIs
Publication statusPublished - Mar 2013

Keywords

  • Atm
  • Dna damage
  • Ips cells
  • Neural stem cell
  • Neurodegeneration

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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