Article
Rats with a missense mutation in Atm display neuroinflammation and neurodegeneration subsequent to accumulation of cytosolic DNA following unrepaired DNA damage.
Journal of leukocyte biology - 1 Apr 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
Mutations in the ataxia-telangiectasia (A-T)-mutated (ATM) gene give rise to the human genetic disorder A-T, characterized by immunodeficiency, cancer predisposition, and neurodegeneration. Whereas a series of animal models recapitulate much of the A-T phenotype, they fail to present with ataxia or neurodegeneration. We describe here the generation of an Atm missense mutant [amino acid change of leucine (L) to...
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