Ataxia-telangiectasia: from a rare disorder to a paradigm for cell signalling and cancer
Top Cited Papers
- 1 October 2008
- journal article
- review article
- Published by Springer Nature in Nature Reviews Molecular Cell Biology
- Vol. 9 (10) , 759-769
- https://doi.org/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.Keywords
This publication has 114 references indexed in Scilit:
- Phospho‐dependent interactions between NBS1 and MDC1 mediate chromatin retention of the MRN complex at sites of DNA damageEMBO Reports, 2008
- RNF8 Transduces the DNA-Damage Signal via Histone Ubiquitylation and Checkpoint Protein AssemblyCell, 2007
- RNF8 Ubiquitylates Histones at DNA Double-Strand Breaks and Promotes Assembly of Repair ProteinsCell, 2007
- Systematic Discovery of In Vivo Phosphorylation NetworksCell, 2007
- ATM deficiency impairs thymocyte maturation because of defective resolution of T cell receptor α locus coding end breaksProceedings of the National Academy of Sciences, 2007
- Oncogene-induced senescence is part of the tumorigenesis barrier imposed by DNA damage checkpointsNature, 2006
- Involvement of novel autophosphorylation sites in ATM activationThe EMBO Journal, 2006
- Activation of the DNA damage checkpoint and genomic instability in human precancerous lesionsNature, 2005
- DNA damage activates ATM through intermolecular autophosphorylation and dimer dissociationNature, 2003
- Interaction of FANCD2 and NBS1 in the DNA damage responseNature Cell Biology, 2002