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pro vyhledávání: '"Y. L. Onderwater"'
Autor:
S. M. Kamel, C. J. M. van Opbergen, C. D. Koopman, A. O. Verkerk, B. J. D. Boukens, B. de Jonge, Y. L. Onderwater, E. van Alebeek, S. Chocron, C. Polidoro Pontalti, W. J. Weuring, M. A. Vos, T. P. de Boer, T. A. B. van Veen, J. Bakkers
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Arrhythmogenic cardiomyopathy is a genetically inherited disease caused by deletion of an arginine in Phospholamban (PLN), a small protein that regulates intracellular calcium levels. Here the authors show that zebrafish with the PLN p.Arg14del mutat
Externí odkaz:
https://doaj.org/article/3fe9035389c84ef186c3c9c4ea25cda4
Autor:
Jeroen Bakkers, Y. L. Onderwater, C. J. M. van Opbergen, Charlotte D. Koopman, Arie O. Verkerk, M A Vos, T.P. de Boer, Sonja Chocron, Sarah M. Kamel, T. A. B. van Veen, C. Polidoro Pontalti
The heterozygous phospholamban (PLN) p.Arg14del (R14del) mutation is found in patients with dilated or arrhythmogenic cardiomyopathy. The PLN R14del mutation triggers cardiac contractile dysfunction and arrhythmogenesis by affecting intracellular Ca2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7b3dd8407ba6295804169280bed07532
https://doi.org/10.1101/2020.11.25.397422
https://doi.org/10.1101/2020.11.25.397422