Article
A novel porcine model of ataxia telangiectasia reproduces neurological features and motor deficits of human disease.
Human molecular genetics - 15 Nov 2015
Beraldi Rosanna, Chan Chun-Hung, Rogers Christopher S, Kovács Attila D, Meyerholz David K, Trantzas Constantin, Lambertz Allyn M, Darbro Benjamin W, Weber Krystal L, White Katherine A M, Rheeden Richard V, Kruer Michael C, Dacken Brian A, Wang Xiao-Jun, Davis Bryan T, Rohret Judy A, Struzynski Jason T, Rohret Frank A, Weimer Jill M, Pearce David A
Abstract excerpt
Ataxia telangiectasia (AT) is a progressive multisystem disorder caused by mutations in the AT-mutated (ATM) gene. AT is a neurodegenerative disease primarily characterized by cerebellar degeneration in children leading to motor impairment. The disease progresses with other clinical manifestations including oculocutaneous telangiectasia, immune disorders, increased susceptibly to cancer and respiratory...
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