Ontology highlight
ABSTRACT:
SUBMITTER: Zheng G
PROVIDER: S-EPMC6340891 | biostudies-literature | 2019 Feb
REPOSITORIES: biostudies-literature
Zheng Guoxing G Jiang Changying C Li Yulin Y Yang Dandan D Ma Youcai Y Zhang Bing B Li Xuan X Zhang Pei P Hu Xiaoyu X Zhao Xueqiang X Du Jie J Lin Xin X
Protein & cell 20180706 2
Arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) is a genetic cardiac muscle disease that accounts for approximately 30% sudden cardiac death in young adults. The Ser358Leu mutation of transmembrane protein 43 (TMEM43) was commonly identified in the patients of highly lethal and fully penetrant ARVD subtype, ARVD5. Here, we generated TMEM43 S358L mouse to explore the underlying mechanism. This mouse strain showed the classic pathologies of ARVD patients, including structural ab ...[more]