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Role of Nuclear Lamin A/C in the Regulation of Nav1.5 Channel and Microtubules: Lesson From the Pathogenic Lamin A/C Variant Q517X

In this work, we studied an lmna nonsense mutation encoding for the C-terminally truncated Lamin A/C (LMNA) variant Q517X, which was described in patients affected by a severe arrhythmogenic cardiomyopathy with history of sudden death. We found that LMNA Q517X stably expressed in HL-1 cardiomyocytes...

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Detalles Bibliográficos
Autores principales: De Zio, Roberta, Pietrafesa, Giusy, Milano, Serena, Procino, Giuseppe, Bramerio, Manuela, Pepe, Martino, Forleo, Cinzia, Favale, Stefano, Svelto, Maria, Gerbino, Andrea, Carmosino, Monica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9277463/
https://www.ncbi.nlm.nih.gov/pubmed/35846372
http://dx.doi.org/10.3389/fcell.2022.918760