Article
Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes.
Journal of cellular and molecular medicine - 1 Feb 2018
Hallas Tova, Eisen Binyamin, Shemer Yuval, Ben Jehuda Ronen, Mekies Lucy N, Naor Shulamit, Schick Revital, Eliyahu Sivan, Reiter Irina, Vlodavsky Eugene, Katz Yeshayahu Shai, Õunap Katrin, Lorber Avraham, Rodenburg Richard, Mandel Hanna, Gherghiceanu Mihaela, Binah Ofer
Abstract excerpt
Mutations in SCO2 are among the most common causes of COX deficiency, resulting in reduced mitochondrial oxidative ATP production capacity, often leading to hypertrophic cardiomyopathy (HCM). To date, none of the recent pertaining reports provide deep understanding of the SCO2 disease pathophysiology. To investigate the cardiac pathology of the disease, we were the first to generate induced pluripotent stem cell...
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