Journal article
Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro
Neurology, Vol.53(6), pp.1352-4
12/10/1999
Abstract
McArdle's disease is due to a genetic deficiency of glycogen phosphorylase and results in a lack of glucose mobilization from glycogen during anaerobic exercise. A genetic defect in Merino sheep produces a similar picture. We constructed a first-generation adenoviral recombinant containing the full-length human phosphorylase cDNA under the control of the Rous sarcoma virus promoter. Primary myoblast cultures from phosphorylase-deficient human and sheep muscle were efficiently transduced with this vector, resulting in restoration of the phosphorylase activity. A similar correction of the genetic defect in muscles of McArdle's patients in vivo appears feasible, preferably with the use of an adeno-associated viral vector.
Details
- Title
- Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro
- Authors/Creators
- G. Pari (Author/Creator)M.M. Crerar (Author/Creator)J. Nalbantoglu (Author/Creator)E. Shoubridge (Author/Creator)A. Jani (Author/Creator)S. Tsujino (Author/Creator)S. Shanske (Author/Creator)S. DiMauro (Author/Creator)J.M. Howell (Author/Creator)G. Karpati (Author/Creator)
- Publication Details
- Neurology, Vol.53(6), pp.1352-4
- Publisher
- American Academy of Neurology
- Identifiers
- 991005541461907891
- Murdoch Affiliation
- School of Veterinary and Biomedical Sciences
- Language
- English
- Resource Type
- Journal article
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