Article
Repeat length increases disease penetrance and severity in C9orf72 ALS/FTD BAC transgenic mice.
Human molecular genetics - 25 Feb 2021
Pattamatta Amrutha, Nguyen Lien, Olafson Hailey R, Scotti Marina M, Laboissonniere Lauren A, Richardson Jared, Berglund J Andrew, Zu Tao, Wang Eric T, Ranum Laura P W
Abstract excerpt
C9orf72 ALS/FTD patients show remarkable clinical heterogeneity, but the complex biology of the repeat expansion mutation has limited our understanding of the disease. BAC transgenic mice were used to better understand the molecular mechanisms and repeat length effects of C9orf72 ALS/FTD. Genetic analyses of these mice demonstrate that the BAC transgene and not integration site effects cause ALS/FTD phenotypes....
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