1. And Its Role in Ataxia Telangiectasia
ATM
And Its Role in Ataxia Telangiectasia
(Louis-Bar syndrome)
Tauris Claiborne

2. The DDR cascade leads to DNA repair or apoptosis

3. Domain Structure of Human ATM

4. Autophosphorylation of ATM at serine 1981 is required for stabilized retention to DSBs

5. MRN complex senses DNA DSB and binds as an MR heterotetramer

6. ATM stimulates p53 to promote cell cycle arrest

7. A-T has symptoms of ataxia, telangiectasia, and radiation sensitivity

8. ATM deficient mice experience growth retardation

9. Translocation mutations lead to malignant thymic lymphoma

10. References
Ataxia-telangiectasia. (2013, March 23). Retrieved March 26, 2015, from
Cremona, C., & Behrens, A. (2013). ATM signalling and cancer. Oncogene. Retrieved March 26, 2015, from
Lavin, M. (2008). Ataxia-telangiectasia: From a rare disorder to a paradigm for cell signalling and cancer. Nature Reviews Molecular Cell Biology. Retrieved March 26, 2015, from
Shiloh, Y., & Ziv, Y. (2013). The ATM protein kinase: Regulating the cellular response to genotoxic stress, and more. Nature Reviews Molecular Cell Biology. Retrieved March 25, 2015, from
A-T. (n.d.). Retrieved March 26, 2015, from Telangiectasia.pdf
So, S., Davis, A., & Chen, D. (2009). Autophosphorylation at serine 1981 stabilizes ATM at DNA damage sites. JCB. Retrieved March 25, 2015, from
Elson, A., & Leder, P. (1996). Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proceedings of the National Academy of Sciences. Retrieved March 25, 2015, from
Barlow, C., & Wynshaw-Boris, A. (1996). Atm-Deficient Mice: A Paradigm of Ataxia Telangiectasia. Cell Press, 86(1), Retrieved March 25, 2015, from