Jianchao Zhang, Ying Peng, Wanrong Fu, Ruifei Wang, Jinhua Cao, Shuang Li, Xiaoxu Tian, Zhonggen Li, Chongpei Hua, Yafei Zhai, Yangyang Liu, Mengduan Liu, Jihong Sun, Xiaowei Li, Xiaoyan Zhao, Jianzeng Dong
Pleckstrin homology domain-containing family M member 2 (PLEKHM2) is an essential adaptor for lysosomal trafficking and its homozygous truncation have been reported to cause early onset dilated cardiomyopathy (DCM). However, the molecular mechanism of PLEKHM2 deficiency in DCM pathogenesis and progression is poorly understood. Here, we generated an in vitro model of PLEKHM2 knockout (KO) induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) to elucidate the potential pathogenic mechanism of PLEKHM2-deficient cardiomyopathy...
March 15, 2024: Cell Death Discovery