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Glycogen Storage Disease Type VII

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Disease relevance of Glycogen Storage Disease Type VII


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Chemical compound and disease context of Glycogen Storage Disease Type VII


Biological context of Glycogen Storage Disease Type VII


Gene context of Glycogen Storage Disease Type VII


  1. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. Nichols, R.C., Rudolphi, O., Ek, B., Exelbert, R., Plotz, P.H., Raben, N. Am. J. Hum. Genet. (1996) [Pubmed]
  2. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. Howard, T.D., Akots, G., Bowden, D.W. Genomics (1996) [Pubmed]
  3. A comparative study on glucagon effect between McArdle disease and Tarui disease. Mineo, I., Kono, N., Shimizu, T., Sumi, S., Nonaka, K., Tarui, S. Muscle Nerve (1984) [Pubmed]
  4. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. Haller, R.G., Lewis, S.F. N. Engl. J. Med. (1991) [Pubmed]
  5. Muscle phosphofructokinase deficiency. Biochemical and immunological studies of phosphofructokinase isozymes in muscle culture. Davidson, M., Miranda, A.F., Bender, A.N., DiMauro, S., Vora, S. J. Clin. Invest. (1983) [Pubmed]
  6. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. Tsujino, S., Servidei, S., Tonin, P., Shanske, S., Azan, G., DiMauro, S. Am. J. Hum. Genet. (1994) [Pubmed]
  7. Calcium activates erythrocyte AMP deaminase [isoform E (AMPD3)] through a protein-protein interaction between calmodulin and the N-terminal domain of the AMPD3 polypeptide. Mahnke, D.K., Sabina, R.L. Biochemistry (2005) [Pubmed]
  8. Increased plasma uric acid after exercise in muscle phosphofructokinase deficiency. Kono, N., Mineo, I., Shimizu, T., Hara, N., Yamada, Y., Nonaka, K., Tarui, S. Neurology (1986) [Pubmed]
  9. Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency. Lewis, S.F., Vora, S., Haller, R.G. J. Appl. Physiol. (1991) [Pubmed]
  10. Muscle phosphofructokinase deficiency: two cases with unusual polysaccharide accumulation and immunologically active enzyme protein. Agamanolis, D.P., Askari, A.D., Di Mauro, S., Hays, A., Kumar, K., Lipton, M., Raynor, A. Muscle Nerve (1980) [Pubmed]
  11. Iodoacetate inhibition of glyceraldehyde-3-phosphate dehydrogenase as a model of human myophosphorylase deficiency (McArdle's disease) and phosphofructokinase deficiency (Tarui's disease). Brumback, R.A. J. Neurol. Sci. (1980) [Pubmed]
  12. Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS. Malucelli, E., Lodi, R., Martinuzzi, A., Tonon, C., Barbiroli, B., Iotti, S. Dynamic medicine [electronic resource] : DM. (2005) [Pubmed]
  13. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. Nakajima, H., Kono, N., Yamasaki, T., Hotta, K., Kawachi, M., Kuwajima, M., Noguchi, T., Tanaka, T., Tarui, S. J. Biol. Chem. (1990) [Pubmed]
  14. Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency. Vissing, J., Galbo, H., Haller, R.G. Neurology (1996) [Pubmed]
  15. A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing. Hamaguchi, T., Nakajima, H., Noguchi, T., Ono, A., Kono, N., Tarui, S., Kuwajima, M., Matsuzawa, Y. Biochem. Biophys. Res. Commun. (1994) [Pubmed]
  16. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. Aasly, J., van Diggelen, O.P., Boer, A.M., Brønstad, G. Eur. J. Neurol. (2000) [Pubmed]
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