Novel Junctophilin-2 Mutation A405S Is Associated With Basal Septal Hypertrophy and Diastolic Dysfunction

Junctophilin-2 (JPH2) is a structural calcium (Ca(2+)) handling protein, which approximates the cardiomyocyte transverse tubules (TTs) to the sarcoplasmic reticulum. This facilitates communication of the voltage-gated Ca(2+) channel and the ryanodine receptor RyR2. A human patient with hypertrophic...

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Detalles Bibliográficos
Autores principales: Quick, Ann P., Landstrom, Andrew P., Wang, Qiongling, Beavers, David L., Reynolds, Julia O., Barreto-Torres, Giselle, Tran, Viet, Showell, Jordan, Philippen, Leonne E., Morris, Shaine A., Skapura, Darlene, Bos, J. Martijn, Pedersen, Steen E., Pautler, Robia G., Ackerman, Michael J., Wehrens, Xander H.T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2017
Materias:
PRECLINICAL RESEARCH
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5384575/
https://www.ncbi.nlm.nih.gov/pubmed/28393127
http://dx.doi.org/10.1016/j.jacbts.2016.11.004

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