Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.

@article{Koeberl2011EnhancedEO,
  title={Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.},
  author={Dwight D. Koeberl and Xiaoyan Luo and Baodong Sun and Alison J. McVie-Wylie and Jian Dai and Songtao Li and Suhrad G. Banugaria and Y-T Chen and Deeksha Bali},
  journal={Molecular genetics and metabolism},
  year={2011},
  volume={103 2},
  pages={107-12}
}
Enzyme replacement therapy (ERT) with acid α-glucosidase has become available for Pompe disease; however, the response of skeletal muscle, as opposed to the heart, has been attenuated. The poor response of skeletal muscle has been attributed to the low abundance of the cation-independent mannose-6-phosphate receptor (CI-MPR) in skeletal muscle compared to heart. To further understand the role of CI-MPR in Pompe disease, muscle-specific CI-MPR conditional knockout (KO) mice were crossed with GAA… CONTINUE READING