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Plakophilin-2 Haploinsufficiency Causes Calcium Handling Deficits and Modulates the Cardiac Response Towards Stress

Human variants in plakophilin-2 (PKP2) associate with most cases of familial arrhythmogenic cardiomyopathy (ACM). Recent studies show that PKP2 not only maintains intercellular coupling, but also regulates transcription of genes involved in Ca(2+) cycling and cardiac rhythm. ACM penetrance is low an...

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Detalles Bibliográficos
Autores principales: van Opbergen, Chantal J.M., Noorman, Maartje, Pfenniger, Anna, Copier, Jaël S., Vermij, Sarah H., Li, Zhen, van der Nagel, Roel, Zhang, Mingliang, de Bakker, Jacques M.T., Glass, Aaron M., Mohler, Peter J., Taffet, Steven M., Vos, Marc A., van Rijen, Harold V.M., Delmar, Mario, van Veen, Toon A.B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747156/
https://www.ncbi.nlm.nih.gov/pubmed/31438494
http://dx.doi.org/10.3390/ijms20174076