Myotonic dystrophy
- Recapitulating muscle disease phenotypes with myotonic dystrophy 1 induced pluripotent stem cells: a tool for disease modeling and drug discovery
Summary: This work provides proof of principle for the use of myotonic dystrophy 1 patient-specific induced pluripotent stem cells to model muscle pathology in vitro and in drug discovery.
- Daunorubicin reduces MBNL1 sequestration caused by CUG-repeat expansion and rescues cardiac dysfunctions in a Drosophila model of myotonic dystrophy
Summary: MBNL protein sequestration by expanded CUG RNA contributes towards cardiac dysfunction in a myotonic dystrophy Drosophila model. Here, the authors identify the anticancer drug daunorubicin as a candidate therapeutic for the disease.
- (CCUG)n RNA toxicity in a Drosophila model of myotonic dystrophy type 2 (DM2) activates apoptosis
Summary: A Drosophila model of myotonic dystrophy type 2 (DM2) recapitulates several features of the human disease, identifies apoptosis as a contributing factor to DM2, and is likely to provide a convenient tool for drug screening.
- Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
Summary: Myotonic dystrophy muscle cell models displaying characteristic disease-associated molecular features can be used to investigate molecular pathophysiological mechanisms and evaluate therapeutic approaches.
- Pentamidine rescues contractility and rhythmicity in a Drosophila model of myotonic dystrophy heart dysfunction
Summary: The authors characterize a cardiac-dysfunction model of DM1 in Drosophila, and show that pentamidine rescues both contractility and rhythmicity.