Article
Seipin ablation in mice results in severe generalized lipodystrophy.
Human molecular genetics - 1 Aug 2011
Cui Xin, Wang Yuhui, Tang Yin, Liu Yixiao, Zhao Liping, Deng Jingna, Xu Guoheng, Peng Xingui, Ju Shenghong, Liu George, Yang Hongyuan
Abstract excerpt
Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is an autosomal recessive disorder characterized by an almost complete loss of adipose tissue, insulin resistance and fatty liver. Here, we create the first murine model of BSCL2 by targeted disruption of seipin, the causative gene for BSC...
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