Induced pluripotent stem cells from patients with ataxia-telangiectasia [thesis]

Samual Nayler
A-T (Ataxia-Telangiectasia) is a multi-systemic, rare genetic disorder hallmarked by predisposition to cancer, immune deficiency and most notably progressive neurodegeneration [1]. A-T results from mutation of the ATM gene (11q22.3). ATM is a protein kinase belonging to the phosphatidylinositol 3-kinase-like family [2]. ATM exerts control over Publications during candidature Nayler, S., Gatei, M., Kozlov, S., Gatti, R., Mar, J.C., Wells, C.A., Lavin, M., and Wolvetang, E. (2012). Induced
more » ... 12). Induced pluripotent stem cells from Ataxia-Telangiectasia recapitulate the cellular phenotype. Stem Cells Transl Med 1, 523-535. (Work from this publication appears in chapters two and three of this thesis that include additional details and experimental results).
doi:10.14264/uql.2015.23 fatcat:57knl4kzqrhapfgz4loll4y7bq