Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies

Mutations in the cardiac splicing factor RBM20 lead to malignant dilated cardiomyopathy (DCM). To understand the mechanism of RBM20-associated DCM, we engineered isogenic iPSCs with DCM-associated missense mutations in RBM20 as well as RBM20 knockout (KO) iPSCs. iPSC-derived engineered heart tissues...

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Detalles Bibliográficos
Autores principales: Fenix, Aidan M., Miyaoka, Yuichiro, Bertero, Alessandro, Blue, Steven M., Spindler, Matthew J., Tan, Kenneth K. B., Perez-Bermejo, Juan A., Chan, Amanda H., Mayerl, Steven J., Nguyen, Trieu D., Russell, Caitlin R., Lizarraga, Paweena P., Truong, Annie, So, Po-Lin, Kulkarni, Aishwarya, Chetal, Kashish, Sathe, Shashank, Sniadecki, Nathan J., Yeo, Gene W., Murry, Charles E., Conklin, Bruce R., Salomonis, Nathan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566601/
https://www.ncbi.nlm.nih.gov/pubmed/34732726
http://dx.doi.org/10.1038/s41467-021-26623-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8566601/
https://www.ncbi.nlm.nih.gov/pubmed/34732726
http://dx.doi.org/10.1038/s41467-021-26623-y

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