Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery

Titin-truncating variants (TTNtv) are the single largest genetic cause of dilated cardiomyopathy (DCM). In this study we modeled disease phenotypes of A-band TTNtv-induced DCM in human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) using genome editing and tissue engineering techno...

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Detalles Bibliográficos
Autores principales: Huang, Guanyi, Bisaria, Anjali, Wakefield, Devin L., Yamawaki, Tracy M., Luo, Xin, Zhang, Jingli A., Vigneault, Patrick, Wang, Jinghong, Reagan, Jeffrey D., Oliverio, Oliver, Zhou, Hong, Li, Chi-Ming, Vila, Olaia F., Wang, Songli, Malik, Fady I., Hartman, James J., Hale, Christopher M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9860080/
https://www.ncbi.nlm.nih.gov/pubmed/36525964
http://dx.doi.org/10.1016/j.stemcr.2022.11.008

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