Article
Conditionally targeted deletion of PSEN1 leads to diastolic heart dysfunction.
Journal of cellular physiology - 1 Feb 2018
Song Xiao-Wei, Yuan Qing-Ning, Tang Ying, Cao Mi, Shen Ya-Feng, Zeng Zhen-Yu, Lei Chang-Hai, Li SongHua, Zhao Xian-Xian, Yang Yong-Ji
Abstract excerpt
Recently, PSEN1 has been reported to have mutations in dilated cardiomyopathy pedigrees. However, the function and mechanism of PSEN1 in cardiomyopathy remains unresolved. Here, we established four types of genetically modified mice to determine the function of PSEN1 in cardiac development and pathology. PSEN1 null mutation resulted in perinatal death, retardation of heart growth, ventricular dilatation, septum...
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