Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies
Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes. Mutant RBM20 showed different target RNA binding, altered splicing and localization to cytoplasmic processing bodies.
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2021
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oai:doaj.org-article:f87c8729e80949bda7d8b7b816b640842021-11-08T11:07:19ZGain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies10.1038/s41467-021-26623-y2041-1723https://doaj.org/article/f87c8729e80949bda7d8b7b816b640842021-11-01T00:00:00Zhttps://doi.org/10.1038/s41467-021-26623-yhttps://doaj.org/toc/2041-1723Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes. Mutant RBM20 showed different target RNA binding, altered splicing and localization to cytoplasmic processing bodies.Aidan M. FenixYuichiro MiyaokaAlessandro BerteroSteven M. BlueMatthew J. SpindlerKenneth K. B. TanJuan A. Perez-BermejoAmanda H. ChanSteven J. MayerlTrieu D. NguyenCaitlin R. RussellPaweena P. LizarragaAnnie TruongPo-Lin SoAishwarya KulkarniKashish ChetalShashank SatheNathan J. SniadeckiGene W. YeoCharles E. MurryBruce R. ConklinNathan SalomonisNature PortfolioarticleScienceQENNature Communications, Vol 12, Iss 1, Pp 1-14 (2021) |
| institution |
DOAJ |
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DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Aidan M. Fenix Yuichiro Miyaoka Alessandro Bertero Steven M. Blue Matthew J. Spindler Kenneth K. B. Tan Juan A. Perez-Bermejo Amanda H. Chan Steven J. Mayerl Trieu D. Nguyen Caitlin R. Russell Paweena P. Lizarraga Annie Truong Po-Lin So Aishwarya Kulkarni Kashish Chetal Shashank Sathe Nathan J. Sniadecki Gene W. Yeo Charles E. Murry Bruce R. Conklin Nathan Salomonis Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| description |
Mutations in the splicing factor RBM20 cause aggressive Dilated Cardiomyopathy. Here the authors generated RBM20 R636S mutants and knockout in human iPSC-derived cardiomyocytes. Mutant RBM20 showed different target RNA binding, altered splicing and localization to cytoplasmic processing bodies. |
| format |
article |
| author |
Aidan M. Fenix Yuichiro Miyaoka Alessandro Bertero Steven M. Blue Matthew J. Spindler Kenneth K. B. Tan Juan A. Perez-Bermejo Amanda H. Chan Steven J. Mayerl Trieu D. Nguyen Caitlin R. Russell Paweena P. Lizarraga Annie Truong Po-Lin So Aishwarya Kulkarni Kashish Chetal Shashank Sathe Nathan J. Sniadecki Gene W. Yeo Charles E. Murry Bruce R. Conklin Nathan Salomonis |
| author_facet |
Aidan M. Fenix Yuichiro Miyaoka Alessandro Bertero Steven M. Blue Matthew J. Spindler Kenneth K. B. Tan Juan A. Perez-Bermejo Amanda H. Chan Steven J. Mayerl Trieu D. Nguyen Caitlin R. Russell Paweena P. Lizarraga Annie Truong Po-Lin So Aishwarya Kulkarni Kashish Chetal Shashank Sathe Nathan J. Sniadecki Gene W. Yeo Charles E. Murry Bruce R. Conklin Nathan Salomonis |
| author_sort |
Aidan M. Fenix |
| title |
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| title_short |
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| title_full |
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| title_fullStr |
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| title_full_unstemmed |
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| title_sort |
gain-of-function cardiomyopathic mutations in rbm20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodies |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/f87c8729e80949bda7d8b7b816b64084 |
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