The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dynamic cooperation of Lamin A/C and Polycomb repress...

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Autores principales:	Nicolò Salvarani, Silvia Crasto, Michele Miragoli, Alessandro Bertero, Marianna Paulis, Paolo Kunderfranco, Simone Serio, Alberto Forni, Carla Lucarelli, Matteo Dal Ferro, Veronica Larcher, Gianfranco Sinagra, Paolo Vezzoni, Charles E. Murry, Giuseppe Faggian, Gianluigi Condorelli, Elisa Di Pasquale
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2019
Materias:	Science Q
Acceso en línea:	https://doaj.org/article/975fc60819e84ad6adb18ec63c887d5c
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spelling	oai:doaj.org-article:975fc60819e84ad6adb18ec63c887d5c2021-12-02T14:39:39ZThe K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy10.1038/s41467-019-09929-w2041-1723https://doaj.org/article/975fc60819e84ad6adb18ec63c887d5c2019-05-01T00:00:00Zhttps://doi.org/10.1038/s41467-019-09929-whttps://doaj.org/toc/2041-1723Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dynamic cooperation of Lamin A/C and Polycomb repressor complex 2 at the SCN5A promoter.Nicolò SalvaraniSilvia CrastoMichele MiragoliAlessandro BerteroMarianna PaulisPaolo KunderfrancoSimone SerioAlberto ForniCarla LucarelliMatteo Dal FerroVeronica LarcherGianfranco SinagraPaolo VezzoniCharles E. MurryGiuseppe FaggianGianluigi CondorelliElisa Di PasqualeNature PortfolioarticleScienceQENNature Communications, Vol 10, Iss 1, Pp 1-16 (2019)
institution	DOAJ
collection	DOAJ
language	EN
topic	Science Q
spellingShingle	Science Q Nicolò Salvarani Silvia Crasto Michele Miragoli Alessandro Bertero Marianna Paulis Paolo Kunderfranco Simone Serio Alberto Forni Carla Lucarelli Matteo Dal Ferro Veronica Larcher Gianfranco Sinagra Paolo Vezzoni Charles E. Murry Giuseppe Faggian Gianluigi Condorelli Elisa Di Pasquale The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
description	Mutation of LMNA, encoding Lamin A/C nuclear proteins, cause dilated cardiomyopathy and conduction disorders. Here, the authors show that patient-specific iPSC-derived CMs carrying the K219T LMNA mutation have downregulated Nav1.5 channels due to dynamic cooperation of Lamin A/C and Polycomb repressor complex 2 at the SCN5A promoter.
format	article
author	Nicolò Salvarani Silvia Crasto Michele Miragoli Alessandro Bertero Marianna Paulis Paolo Kunderfranco Simone Serio Alberto Forni Carla Lucarelli Matteo Dal Ferro Veronica Larcher Gianfranco Sinagra Paolo Vezzoni Charles E. Murry Giuseppe Faggian Gianluigi Condorelli Elisa Di Pasquale
author_facet	Nicolò Salvarani Silvia Crasto Michele Miragoli Alessandro Bertero Marianna Paulis Paolo Kunderfranco Simone Serio Alberto Forni Carla Lucarelli Matteo Dal Ferro Veronica Larcher Gianfranco Sinagra Paolo Vezzoni Charles E. Murry Giuseppe Faggian Gianluigi Condorelli Elisa Di Pasquale
author_sort	Nicolò Salvarani
title	The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
title_short	The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
title_full	The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
title_fullStr	The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
title_full_unstemmed	The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy
title_sort	k219t-lamin mutation induces conduction defects through epigenetic inhibition of scn5a in human cardiac laminopathy
publisher	Nature Portfolio
publishDate	2019
url	https://doaj.org/article/975fc60819e84ad6adb18ec63c887d5c
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The K219T-Lamin mutation induces conduction defects through epigenetic inhibition of SCN5A in human cardiac laminopathy

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