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

被引：679

作者：

Lavin, Martin F. ^{[1
,2
]}

机构：

[1] Queensland Inst Med Res, Radiat Biol & Oncol Lab, Brisbane, Qld 4029, Australia

[2] Univ Queensland, Clin Res Ctr, Brisbane, Qld 4029, Australia

来源：

NATURE REVIEWS MOLECULAR CELL BIOLOGY | 2008年 / 9卷 / 10期

关键词：

D O I：

10.1038/nrm2514

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

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页码：759 / 769

页数：11

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