Article
Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes.
Human molecular genetics - 9 Jul 2021
Shiba Mikio, Higo Shuichiro, Kondo Takumi, Li Junjun, Liu Li, Ikeda Yoshihiko, Kohama Yasuaki, Kameda Satoshi, Tabata Tomoka, Inoue Hiroyuki, Nakamura Satoki, Takeda Maki, Ito Emiko, Takashima Seiji, Miyagawa Shigeru, Sawa Yoshiki, Hikoso Shungo, Sakata Yasushi
Abstract excerpt
Desmoglein-2, encoded by DSG2, is one of the desmosome proteins that maintain the structural integrity of tissues, including heart. Genetic mutations in DSG2 cause arrhythmogenic cardiomyopathy, mainly in an autosomal dominant manner. Here, we identified a homozygous stop-gain mutations in DSG2 (c.C355T, p.R119X) that led to complete desmoglein-2 deficiency in a patient with severe biventricular heart failure....
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