Abstract| Volume 18, ISSUE 6, SUPPLEMENT , S12, June 2016

Modeling Heart Failure in Danon Disease Using Patient-Specific Induced Pluripotent Stem Cell-Derived Cardiomyocytes

      Background: Danon disease (DD) is a rare X-linked dominant lysosomal glycogen storage disease caused by LAMP2 (lysosomal-associated membrane protein 2) deficiency. The disease phenotype is characterized by severe cardiomyopathy and skeletal muscle weakness. It is often associated with mental retardation. Dysregulation of autophagy has been described in these patients but the precise mechanism causing the disease is still not fully understood. We generated patient-specific induced pluripotent stem cell-derived cardiomyocytes (iPS-CMs) with the aim of using this in vitro model to elucidate the DD physiopathology.
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