Molecular basis of ataxia telangiectasia and related diseases

LG Ball, W Xiao - Acta Pharmacologica Sinica, 2005 - Wiley Online Library
Ataxia telangiectasia (AT) is a rare human disease characterized by extreme cellular
sensitivity to radiation and a predisposition to cancer, with a hallmark of onset in early …

ATM and ataxia telangiectasia: second in molecular medicine review series

PJ McKinnon - EMBO reports, 2004 - embopress.org
Ataxia telangiectasia (AT) has long intrigued the biomedical research community owing to
the spectrum of defects that are characteristic of the disease, including neurodegeneration …

ATM: the product of the gene mutated in ataxia-telangiectasia

MF Lavin - The International Journal of Biochemistry & Cell …, 1999 - Elsevier
Ataxia-telangiectasia mutated (ATM) is the product of the gene mutated in the human
genetic disorder ataxia-telangeictasia (AT). It is a 370 kDa protein that is a member of the …

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

MF Lavin - Nature reviews Molecular cell biology, 2008 - nature.com
First described over 80 years ago, ataxia-telangiectasia (AT) was defined as a clinical entity
50 years ago. Although not encountered by most clinicians, it is a paradigm for cancer …

Pathogenesis of ataxia-telangiectasia: the next generation of ATM functions

M Ambrose, RA Gatti - Blood, The Journal of the American …, 2013 - ashpublications.org
In 1988, the gene responsible for the autosomal recessive disease ataxia-telangiectasia
(AT) was localized to 11q22. 3-23.1. It was eventually cloned in 1995. Many independent …

Predominance of null mutations in ataxia-telangiectasia

S Gilad, R Khosravi, D Shkedy, T Uziel… - Human molecular …, 1996 - academic.oup.com
Ataxia-telangiectasia (AT) is an autosomal recessive disorder involving cerebellar
degeneration, immunodeficiency, chromosomal instability, radiosensitivity and cancer …

Ataxia-telangiectasia: a review

L Bott, C Thumerelle, JC Cuvellier… - Archives de Pediatrie …, 2006 - europepmc.org
Ataxia-telangiectasia (AT) is an autosomal recessive inherited disease caused by mutational
inactivation of the ATM gene. It is a multisystemic disease, characterized by progressive …

The ATM gene and ataxia telangiectasia

A Mavrou, GT Tsangaris, E Roma… - Anticancer research, 2008 - ar.iiarjournals.org
Ataxia telangiectasia (AT) is a rare neurodegenerative, autosomal recessive disorder
characterized by chromosome instability, radiosensitivity, immunodeficiency and a …

Ataxia-telangiectasia: future prospects

MW Chaudhary, RS Al-Baradie - The application of clinical …, 2014 - Taylor & Francis
Ataxia-telangiectasia (AT) is an autosomal recessive multi-system disorder caused by
mutation in the ataxia-telangiectasia mutated gene (ATM). ATM is a large serine/threonine …

ATM (ataxia telangiectasia mutated): expanding roles in the DNA damage response and cellular homeostasis

Y Shiloh - Biochemical Society Transactions, 2001 - portlandpress.com
DNA damage is one of the most acute threats to cellular homeostasis and life. The cell
responds to such damage by activating a vast array of responses, ranging from DNA repair …