Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

Journal of Biological Chemistry

Volumn 283, Issue 49, 2008, Pages 33816-33825

  Tagliabracci, Vincent S ^a   Girard, Jean Marie ^b   Segvich, Dyann ^a   Meyer, Catalina ^a   Turnbull, Julie ^b   Zhao, Xiaochu ^b   Minassian, Berge A ^b   DePaoli Roach, Anna A ^a   Roach, Peter J ^a,c  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MS405A ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BIOCHEMISTRY; CENTRIFUGATION; CHEMICAL REACTIONS; ENZYMES; METABOLISM; PELLETIZING; POLYSACCHARIDES;

ABNORMAL METABOLISMS; ABNORMAL MORPHOLOGIES; DUAL SPECIFICITIES; ELECTRON MICROSCOPY.; ESSENTIAL COMPONENTS; GLYCOGEN METABOLISMS; GLYCOGEN SYNTHASE; LOW SPEEDS; NEURODEGENERATION; PROTEIN PHOSPHATASES; TISSUE EXTRACTS;

PHOSPHORYLATION;

GLUCOSE 6 PHOSPHATE; GLYCOGEN; GLYCOGEN PHOSPHATE; LAFORIN; PROTEIN; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; DISEASE COURSE; EPM2A GENE; GENE; GENE MUTATION; GLYCOGEN METABOLISM; GLYCOGEN MUSCLE LEVEL; MOUSE; MYOCLONUS EPILEPSY; NONHUMAN; ONSET AGE; PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN FUNCTION;

ANIMALS; DISEASE MODELS, ANIMAL; DUAL-SPECIFICITY PHOSPHATASES; ETHANOL; GLYCOGEN; HUMANS; LAFORA DISEASE; MICE; MICE, TRANSGENIC; MODELS, BIOLOGICAL; MODELS, GENETIC; PHOSPHATES; POLYMERS; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; TIME FACTORS;

MUS;

EID: 57749088693     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M807428200     Document Type: Article

References (51)

1. Roach, P. J. (2002) Curr. Mol. Med. 2, 101-120
2. Ball, S., Guan, H. P., James, M., Myers, A., Keeling, P., Mouille, G., Buleon, A., Colonna, P., and Preiss, J. (1996) Cell 86, 349-352
3. Gunja-Smith, Z., Marshall, J. J., Mercier, C., Smith, E. E., and Whelan, W. J. (1970) FEBS Lett. 12, 101-104
4. Shearer, J., and Graham, T. E. (2004) Exerc. Sport Sci. Rev. 32, 120-126
5. Lomako, J., Lomako, W. M., Whelan, W. J., and Marchase, R. B. (1993) FEBS Lett. 329, 263-267
6. Lomako, J., Lomako, W. M., Kirkman, B. R., and Whelan, W. J. (1994) Biofactors 4, 167-171
7. Fontana, J. D. (1980) FEBS Lett. 109, 85-92
8. Ritte, G., Heydenreich, M., Mahlow, S., Haebel, S., Kotting, O., and Steup, M. (2006) FEBS Lett. 580, 4872-4876
9. Cavanagh, J. B. (1999) Brain Res. 29, 265-295
10. Nakajima, H., Raben, N., Hamaguchi, T., and Yamasaki, T. (2002) Curr. Mol. Med. 2, 197-212
11. DiMauro, S., and Lamperti, C. (2001) Muscle Nerve 24, 984-999
12. Ganesh, S., Puri, R., Singh, S., Mittal, S., and Dubey, D. (2006) J. Hum. Genet. 51, 1-8
13. Chan, E. M., Andrade, D. M., Franceschetti, S., and Minassian, B. (2005) Adv. Neurol. 95, 47-57
14. Delgado-Escueta, A. V. (2007) Curr. Neurol. Neurosci. Rep. 7, 428-433
15. Minassian, B. A., Lee, J. R., Herbrick, J. A., Huizenga, J., Soder, S., Mungall, A. J., Dunham, I., Gardner, R., Fong, C. Y., Carpenter, S., Jardim, L., Satishchandra, P., Andermann, E., Snead, O. C., 3rd, Lopes-Cendes, I., Tsui, L. C., Delgado-Escueta, A. V., Rouleau, G. A., and Scherer, S. W. (1998) Nat. Genet. 20, 171-174
16. Ianzano, L., Zhang, J., Chan, E. M., Zhao, X. C., Lohi, H., Scherer, S. W., and Minassian, B. A. (2005) Hum. Mut. 26, 397
17. Boraston, A. B., Bolam, D. N., Gilbert, H. J., and Davies, G. J. (2004) Biochem. J. 382, 769-781
18. Chan, E. M., Ackerley, C. A., Lohi, H., Ianzano, L., Cortez, M. A., Shannon, P., Scherer, S. W., and Minassian, B. A. (2004) Hum. Mol. Genet. 13, 1117-1129
19. Wang, J., Stuckey, J. A., Wishart, M. J., and Dixon, J. E. (2002) J. Biol. Chem. 277, 2377-2380
20. Chan, E. M., Young, E. J., Ianzano, L., Munteanu, I., Zhao, X., Christopoulos, C. C., Avanzini, G., Elia, M., Ackerley, C. A., Jovic, N. J., Bohlega, S., Andermann, E., Rouleau, G. A., Delgado-Escueta, A. V., Minassian, B. A., and Scherer, S. W. (2003) Nat. Genet. 35, 125-127
21. Ganesh, S., Delgado-Escueta, A. V., Sakamoto, T., Avila, M. R., Machado-Salas, J., Hoshii, Y., Akagi, T., Gomi, H., Suzuki, T., Amano, K., Agarwala, K. L., Hasegawa, Y., Bai, D. S., Ishihara, T., Hashikawa, T., Itohara, S., Cornford, E. M., Niki, H., and Yamakawa, K. (2002) Hum. Mol. Genet 11, 1251-1262
22. Gentry, M. S., Worby, C. A., and Dixon, J. E. (2005) Proc. Natl. Acad. Sci. U. S. A. 102, 8501-8506
23. Vilchez, D., Ros, S., Cifuentes, D., Pujadas, L., Valles, J., Garcia-Fojeda, B., Criado-Garcia, O., Fernandez-Sanchez, E., Medrano-Fernandez, I., Dominguez, J., Garcia-Rocha, M., Soriano, E., Rodriguez de Cordoba, S., and Guinovart, J. J. (2007) Nat. Neurosci. 10, 1407-1413
24. Cheng, A., Zhang, M., Gentry, M. S., Worby, C. A., Dixon, J. E., and Saltiel, A. R. (2007) Gene Dev. 21, 2399-2409
25. Worby, C. A., Gentry, M. S., and Dixon, J. E. (2008) J. Biol. Chem. 283, 4069-4076
26. Tagliabracci, V. S., Turnbull, J., Wang, W., Girard, J. M., Zhao, X., Skurat, A. V., Delgado-Escueta, A. V., Minassian, B. A., Depaoli-Roach, A. A., and Roach, P. J. (2007) Proc. Natl. Acad. Sci. U. S. A. 104, 19262-19266
27. Skurat, A. V., Cao, Y., and Roach, P. J. (1993) J. Biol. Chem. 268, 14701-14707
28. Bergmeyer, H. U. (1974) Methods of Enzymatic Analysis, 2nd English Ed., pp. 1196-1201, Academic Press, New York
29. Suzuki, Y., Lanner, C., Kim, J. H., Vilardo, P. G., Zhang, H., Yang, J., Cooper, L. D., Steele, M., Kennedy, A., Bock, C. B., Scrimgeour, A., Lawrence, J. C., Jr., and DePaoli-Roach, A. A. (2001) Mol. Cell. Biol. 21, 2683-2694
30. Krisman, C. R. (1962) Anal. Biochem. 4, 17-23
31. Pederson, B. A., Csitkovits, A. G., Simon, R., Schroeder, J. M., Wang, W., Skurat, A. V., and Roach, P. J. (2003) Biochem. Biophys. Res. Commun. 305, 826-830
32. Thomas, J. A., Schlender, K. K., and Larner, J. (1968) Anal. Biochem. 25, 486-499
33. Drochmans, P. (1962) J. Ultra Res. 6, 141-163
34. Rybicka, K. K. (1996) Tissue Cell 28, 253-265
35. Wang, W., Lohi, H., Skurat, A. V., Depaoli-Roach, A. A., Minassian, B. A., and Roach, P. J. (2007) Arch Biochem. Biophys. 457, 264-269
36. Wang, W., Parker, G. E., Skurat, A. V., Raben, N., DePaoli-Roach, A. A., and Roach, P. J. (2006) Biochem. Biophys. Res. Commun. 350, 588-592
37. Roach, R. J., and Larner, J. (1977) Mol. Cell Biochem. 15, 179-200
38. Brady, M. J., and Saltiel, A. R. (2001) Recent Prog. Horm. Res. 56, 157-173
39. Fernandez-Sanchez, M. E., Criado-Garcia, O., Heath, K. E., Garcia-Fojeda, B., Medrano-Fernandez, I., Gomez-Garre, P., Sanz, P., Serratosa, J. M., and Rodriguez de Cordoba, S. (2003) Hum. Mol. Genet. 12, 3161-3171
40. Smythe, C., and Cohen, P. (1991) Eur. J. Biochem. 200, 625-631
41. Lomako, J., Lomako, W. M., and Whelan, W. J. (2004) Biochim. Biophys. Acta 1673, 45-55
42. Roach, P. J., and Skurat, A. V. (1997) Prog. Nucleic Acid Res. Mol. Biol. 57, 289-316
43. Sakai, M., Austin, J., Witmer, F., and Trueb, L. (1970) Neurology 20, 160-176
44. Yokoi, S., Austin, J., Witmer, F., and Sakai, M. (1968) Arch. Neurol. 19, 15-33
45. Gessler, K., Uson, I., Takaha, T., Krauss, N., Smith, S. M., Okada, S., Sheldrick, G. M., and Saenger, W. (1999) Proc. Natl. Acad. Sci. U. S. A. 96, 4246-4251
46. Lohi, H., Ianzano, L., Zhao, X. C., Chan, E. M., Turnbull, J., Scherer, S. W., Ackerley, C. A., and Minassian, B. A. (2005) Hum. Mol. Genet. 14, 2727-2736
47. Liu, Y., Wang, Y., Wu, C., Liu, Y., and Zheng, P. (2006) J. Biol. Chem. 281, 34768-34774
48. Liu, R., Wang, L., Chen, C., Liu, Y., Zhou, P., Wang, Y., Wang, X., Turnbull, J., Minassian, B. A., and Zheng, P. (2008) Mol. Cell. Biol. in press
49. Worby, C. A., Gentry, M. S., and Dixon, J. E. (2006) J. Biol. Chem. 281, 30412-30418
50. Solaz-Fuster, M. C., Gimeno-Alcaniz, J. V., Ros, S., Fernandez-Sanchez, M. E., Garcia-Fojeda, B., Criado Garcia, O., Vilchez, D., Dominguez, J., Garcia-Rocha, M., Sanchez-Piris, M., Aguado, C., Knecht, E., Serratosa, J., Guinovart, J. J., Sanz, P., and Rodriguez de Cordoba, S. (2008) Hum. Mol. Genet 17, 667-678
51. Aschenbach, W. G., Suzuki, Y., Breeden, K., Prats, C., Hirshman, M. F., Dufresne, S. D., Sakamoto, K., Vilardo, P. G., Steele, M., Kim, J. H., Jing, S. L., Goodyear, L. J., and DePaoli-Roach, A. A. (2001) J. Biol. Chem. 276, 39959-39967