Abstract

Analysis of mutations and correlation with clinical illness has been greatly expanded by the analysis of a number of families with both phosphofructokinase (PFK) and acid maltase deficiencies. Plans for gene therapy of acid maltase deficiency have moved forward in several areas. A number of metabolic/genetic myopathies have been diagnosed.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Type
Intramural Research (Z01)
Project #
1Z01AR041099-02
Application #
3770200
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
2
Fiscal Year
1993
Total Cost
Indirect Cost

  Institution

Name
National Institute of Arthritis and Musculoskeletal and Skin Diseases
Department
Type
DUNS #
City
State
Country
United States
Zip Code

  Publications

Raben, N; Roberts, A; Plotz, P H (2007) Role of autophagy in the pathogenesis of Pompe disease. Acta Myol 26:45-8
Raben, Nina; Takikita, Shoichi; Pittis, Maria G et al. (2007) Deconstructing Pompe disease by analyzing single muscle fibers: to see a world in a grain of sand... Autophagy 3:546-52
Fukuda, Tokiko; Roberts, Ashley; Plotz, Paul H et al. (2007) Acid alpha-glucosidase deficiency (Pompe disease). Curr Neurol Neurosci Rep 7:71-7
Fukuda, Tokiko; Ahearn, Meghan; Roberts, Ashley et al. (2006) Autophagy and mistargeting of therapeutic enzyme in skeletal muscle in Pompe disease. Mol Ther 14:831-9
Fukuda, Tokiko; Roberts, Ashley; Ahearn, Meghan et al. (2006) Autophagy and lysosomes in Pompe disease. Autophagy 2:318-20
Fukuda, Tokiko; Ewan, Lindsay; Bauer, Martina et al. (2006) Dysfunction of endocytic and autophagic pathways in a lysosomal storage disease. Ann Neurol 59:700-8
Wang, Wei; Parker, Gretchen E; Skurat, Alexander V et al. (2006) Relationship between glycogen accumulation and the laforin dual specificity phosphatase. Biochem Biophys Res Commun 350:588-92
Raben, Nina; Fukuda, Tokiko; Gilbert, Abigail L et al. (2005) Replacing acid alpha-glucosidase in Pompe disease: recombinant and transgenic enzymes are equipotent, but neither completely clears glycogen from type II muscle fibers. Mol Ther 11:48-56
Isenberg, D A; Allen, E; Farewell, V et al. (2004) International consensus outcome measures for patients with idiopathic inflammatory myopathies. Development and initial validation of myositis activity and damage indices in patients with adult onset disease. Rheumatology (Oxford) 43:49-54
Raben, Nina; Nagaraju, Kanneboyina; Lee, Alicia et al. (2003) Induction of tolerance to a recombinant human enzyme, acid alpha-glucosidase, in enzyme deficient knockout mice. Transgenic Res 12:171-8

Showing the most recent 10 out of 17 publications