Article
A rat model of ataxia-telangiectasia: evidence for a neurodegenerative phenotype.
Human molecular genetics - 1 Jan 2017
Quek Hazel, Luff John, Cheung KaGeen, Kozlov Sergei, Gatei Magtouf, Lee C Soon, Bellingham Mark C, Noakes Peter G, Lim Yi Chieh, Barnett Nigel L, Dingwall Steven, Wolvetang Ernst, Mashimo Tomoji, Roberts Tara L, Lavin Martin F
Abstract excerpt
Ataxia-telangiectasia (A-T), an autosomal recessive disease caused by mutations in the ATM gene is characterised by cerebellar atrophy and progressive neurodegeneration which has been poorly recapitulated in Atm mutant mice. Consequently, pathways leading to neurodegeneration in A-T are poorly understood. We describe here the generation of an Atm knockout rat model that does not display cerebellar atrophy but...
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