Phenotypic recapitulation and correction of desmoglein-2-deficient cardiomyopathy using human-induced pluripotent stem cell-derived cardiomyocytes

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.C...

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Publicado en:Hum Mol Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2021
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC8283207/
https://ncbi.nlm.nih.gov/pubmed/33949662
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddab127
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