Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors.

@article{Mah2007PhysiologicalCO,
  title={Physiological correction of Pompe disease by systemic delivery of adeno-associated virus serotype 1 vectors.},
  author={Cathryn S. Mah and Christina A. Pacak and Kerry O Cresawn and Lara R DeRuisseau and Sean A Germain and Melissa A Lewis and Denise A Cloutier and D D Fuller and Barry Byrne},
  journal={Molecular therapy : the journal of the American Society of Gene Therapy},
  year={2007},
  volume={15 3},
  pages={501-7}
}
Pompe disease is caused by a lack of functional lysosomal acid alpha-glucosidase (GAA) and can ultimately lead to fatal hypertrophic cardiomyopathy and respiratory insufficiency. Previously, we demonstrated the ability of recombinant adeno-associated virus serotype 1 (rAAV2/1) vector to restore the therapeutic levels of cardiac and diaphragmatic GAA enzymatic activity in vivo in a mouse model of Pompe disease. We have further characterized cardiac and respiratory function in rAAV2/1-treated… CONTINUE READING