Duncan E. Crombie, Claire L. Curl, Antonia JA Raaijmakers, Priyadharshini Sivakumaran, Tejal Kulkarni, Raymond CB Wong, Itsunari Minami, Marguerite V. Evans-Galea, Shiang Y. Lim, Lea Delbridge, Louise A. Corben, Mirella Dottori, Norio Nakatsuji, Ian A. Trounce et al.
Abstract:We sought to identify the impacts of Friedreich's ataxia (FRDA) on cardiomyocytes. FRDA is an autosomal recessive degenerative condition with neuronal and non-neuronal manifestations, the latter including progressive cardiomyopathy of the left ventricle, the leading cause of death in FRDA. Little is known about the cellular pathogenesis of FRDA in cardiomyocytes. Induced pluripotent stem cells (iPSCs) were derived from three FRDA individuals with characterized GAA repeats. The cells were differentiated into ca…
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