TY - JOUR
T1 - Ataxia-telangiectasia (A-T)
T2 - An emerging dimension of premature ageing
AU - Shiloh, Yosef
AU - Lederman, Howard M
PY - 2016/4/1
Y1 - 2016/4/1
N2 - A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebellar atrophy, immunodeficiency, oculocutaneous telangiectasia (dilated blood vessels), vestigial thymus and gonads, endocrine abnormalities, cancer predisposition and varying sensitivity to DNA damaging agents, particularly those that induce DNA double-strand breaks. With the recent increase in life expectancy of A-T patients, the premature ageing component of this disease is gaining greater awareness. The complex A-T phenotype reflects the ever growing number of functions assigned to the protein encoded by the responsible gene - the homeostatic protein kinase, ATM. The quest to thoroughly understand the complex A-T phenotype may reveal yet elusive ATM functions.
AB - A-T is a prototype genome instability syndrome and a multifaceted disease. A-T leads to neurodegeneration - primarily cerebellar atrophy, immunodeficiency, oculocutaneous telangiectasia (dilated blood vessels), vestigial thymus and gonads, endocrine abnormalities, cancer predisposition and varying sensitivity to DNA damaging agents, particularly those that induce DNA double-strand breaks. With the recent increase in life expectancy of A-T patients, the premature ageing component of this disease is gaining greater awareness. The complex A-T phenotype reflects the ever growing number of functions assigned to the protein encoded by the responsible gene - the homeostatic protein kinase, ATM. The quest to thoroughly understand the complex A-T phenotype may reveal yet elusive ATM functions.
KW - Ageing
KW - Ataxia-telangiectasia
KW - ATM
KW - DNA damage response
KW - Protein kinase
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U2 - 10.1016/j.arr.2016.05.002
DO - 10.1016/j.arr.2016.05.002
M3 - Article
C2 - 27181190
AN - SCOPUS:84971596911
JO - Ageing Research Reviews
JF - Ageing Research Reviews
SN - 1568-1637
ER -