Article
Glycogen stored in skeletal but not in cardiac muscle in acid alpha-glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded human enzyme.
Molecular therapy : the journal of the American Society of Gene Therapy - 1 Nov 2002
Raben Nina, Jatkar Tejas, Lee Alicia, Lu Nina, Dwivedi Sunita, Nagaraju Kanneboyina, Plotz Paul H
Abstract excerpt
Although many lysosomal disorders are corrected by a small amount of the missing enzyme, it has been generally accepted that 20-30% of normal acid alpha-glucosidase (GAA) activity, provided by gene or enzyme replacement therapy, would be required to reverse the myopathy and cardiomyopathy in Pompe disease. We have addressed the issue of reversibility of the disease in the Gaa(-/-) mouse model. We have made...
Topics
- Animals
- Blotting, Western
- Cardiomyopathies
- Female
- Gene Transfer Techniques
- Glycogen
- Glycogen Storage Disease Type II
- Humans
- Mice
- Mice, Knockout