Format

Send to

Choose Destination
See comment in PubMed Commons below
Nat Rev Mol Cell Biol. 2008 Oct;9(10):759-69. doi: 10.1038/nrm2514.

Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer.

Author information

1
Radiation Biology and Oncology Laboratory, Queensland Institute of Medical Research, Brisbane, QLD 4029, Australia. martin.lavin@qimr.edu.au

Erratum in

  • Nat Rev Mol Cell Biol. 2008 Dec;9(12). doi: 10.1038/nrm2514.

Abstract

First described over 80 years ago, ataxia-telangiectasia (A-T) was defined as a clinical entity 50 years ago. Although not encountered by most clinicians, it is a paradigm for cancer predisposition and neurodegenerative disorders and has a central role in our understanding of the DNA-damage response, signal transduction and cell-cycle control. The discovery of the protein A-T mutated (ATM) that is deficient in A-T paved the way for rapid progress on understanding how ATM functions with a host of other proteins to protect against genome instability and reduce the risk of cancer and other pathologies.

PMID:
18813293
DOI:
10.1038/nrm2514
[Indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Support Center