Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.

@article{Chamberlain2012MouseMO,
  title={Mouse model of muscleblind-like 1 overexpression: skeletal muscle effects and therapeutic promise.},
  author={Christopher M. Chamberlain and Laura P. W. Ranum},
  journal={Human molecular genetics},
  year={2012},
  volume={21 21},
  pages={4645-54}
}
Myotonic dystrophy (DM) is a multisystemic disease caused by CTG or CCTG expansion mutations. There is strong evidence that DM1 CUG and DM2 CCUG expansion transcripts sequester muscleblind-like (MBNL) proteins and that loss of MBNL function causes alternative splicing abnormalities that contribute to disease. Because MBNL1 loss is thought to play an important role in disease and localized AAV delivery of MBNL1 partially rescues skeletal muscle pathology in DM mice, there is strong interest in… CONTINUE READING

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in the CUG repeats of myotonic dystrophy and its pre - mRNA substrate cardiac troponin T

  • H. Du, M. S. Cline, +7 authors C. A. Thornton
  • 2010

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