Molecular Mechanisms of Ataxia Telangiectasia (Medical Intelligence Unit (Unnumbered))

Ataxia telangiectasia (AT) is an incurable, rare autosomal recessive genetic disorder which affects approximately one in 40,000-100,000 and the carrier frequency is estimated to be 1:100-200. In the United Kingdom it affects 1 in 300,000 live births amounting to about 5 or 6 cases per year. Although the medial survival rate of affected persons is b Clinical features of ataxia telangiectasia / A.M.R. Taylor Mutations in the ataxia telangiectasia mutated (ATM) gene / Akira Tachibana Cell signaling in ataxia telangiectasia / Tetsuo Nakajima DNA damage and repair in ataxia telangiectasia / Melissa M. Adams and Phillip B. Carpenter Protein-protein interactions in ataxia telangiectasia / Steven M. Shell and Yue Zou Chromosomal instability in ataxia telangiectasia / Luitpold V. Distel and Susann Neubauer Cell cycle defects and apoptosis in ataxia telangiectasia / Deborah Wilsker and Fred Bunz Ataxia telangiectasia : an oxidative stress-related disease / Giovanni Pagano, Paolo Degan and Giuseppe Castello Oncogenesis in ataxia telangectasia : roles of ATM, P53, NF-kB and DDE recombination pathogenesis / David H. Dreyfus Ataxia telangiectasia and its overlap with Nijmegen breakage syndrome and ataxia-like disorders / Lindsay G. Ball and Wei Xiao Animal models for ataxia telangiectasia / Ramune Reliene and Robert H. Schiestl.