Menkes copper-translocating P-type ATPase (ATP7A): Biochemical and cell biology properties, and role in Menkes disease

Journal of Bioenergetics and Biomembranes

Volumn 34, Issue 5, 2002, Pages 363-371

  Voskoboinik, Ilia ^a   Camakaris, James ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Copper; Menkes disease; Menkes protein; P type ATPase; Trafficking

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CARRIER PROTEIN; COPPER DERIVATIVE; ENZYME;

CATALYSIS; CELL MEMBRANE; COPPER DEFICIENCY; CYTOLOGY; GASTROINTESTINAL TRACT; GENE MUTATION; GOLGI COMPLEX; HUMAN; MENKES SYNDROME; PROTEIN FUNCTION; SHORT SURVEY; SYMPTOMATOLOGY;

ADENOSINE TRIPHOSPHATASES; ADENOSINE TRIPHOSPHATE; BINDING SITES; CATION TRANSPORT PROTEINS; COPPER; GENE EXPRESSION REGULATION, ENZYMOLOGIC; HUMANS; MENKES KINKY HAIR SYNDROME; MODELS, MOLECULAR; PHOSPHORYLATION; PROTEIN CONFORMATION; RECOMBINANT FUSION PROTEINS;

EID: 0036820693     PISSN: 0145479X     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1021250003104     Document Type: Short Survey

References (59)

1. Bissig, K. D., Wunderli-Ye, H., Duda, P. W., and Solioz, M. (2001). Biochem. J. 357, 217-223.
2. Camakaris, J., Danks, D. M., Ackland, L., Cartwright, E., Borger, P, and Cotton, R. G. (1980). Biochem. Genet. 18, 117-131.
3. Camakaris, J., Petris, M. J., Bailey, L., Shen, P., Lockhart, P., Glover, T. W., Barcroft, C., Patton, J., and Mercer, J. F. (1995). Hum. Mol. Genet. 4, 2117-2123.
4. Camakaris, J., Voskoboinik, I., and Mercer, J. F. (1999). Biochem. Biophys. Res. Commun. 261, 225-232.
5. Chelly, J., Turner, Z., Tonnesen, T., Petterson, A., Ishikawa Brush, Y., Tommerup, N., Horn, N., and Monaco, A. P. (1993). Nat. Genet. 3, 14-19.
6. Dagenais, S. L., Adam, A. N., Innis, J. W., and Glover, T. W. (2001). Am. J. Hum. Genet. 69, 420-427.
7. Daly, S. E., Lane, L. K., and Blostein, R. (1996). J. Biol. Chem. 271, 23683-23689.
8. Danks, D. M. (1995). In: The Metabolic Basis of Inherited Disease (Eds: Scriver, C. R., Beaudet, A. L., Sly, W. V., and Valle, D.). McGraw-Hill, New York, p. 2211-2235.
9. Fan, B., Grass, G., Rensing, C., and Rosen, B. P. (2001). Biochem. Biophys. Res. Commun. 286, 414-418.
10. Forbes J. R., and Cox, D. W. (2000). Hum. Mol. Genet. 9, 1927-1935.
11. Forbes, J. R., Hsi, G., and Cox, D. W. (1999). J. Biol. Chem. 274, 12408-12413.
12. Francis, M. J., Jones, E. E., Levy, E. R., Martin, R. L., Ponnambalam, S., and Monaco, A. P. (1999). J. Cell. Sci. 112, 1721-1732.
13. Francis, M. J., Jones, E. E., Levy, E. R., Ponnambalam, S., Chelly, J., and Monaco, A. P. (1998). Hum. Mol. Genet. 7, 1245-1252.
14. Fu, D., Beeler, T. J., and Dunn, T. M. (1995). Yeast 11, 283-292.
15. Goodyer, I. D., Jones, E. E., Monaco, A. P., and Francis, M. J. (1999). Hum. Mol. Genet. 8, 1473-1478.
16. Gu, Y. H., Kodama, H., Murata, Y., Mochizuki, D., Yanagawa, Y., Ushijima, H., Shiba, T., and Lee, C. C. (2001). Am. J. Med. Genet. 99, 217-222.
17. Hamza, I., Faisst, A., Prohaska, J., Chen, J., Gruss, P., and Gitlin, J. D. (2001). Proc. Natl. Acad. Sci. U. S. A. 98, 6848-6852.
18. Iida, M., Terada, K., Sambongi, Y., Wakabayashi, T., Miura, N., Koyama, K., Futai, M., and Sugiyama, T. (1998). FEBS Lett. 428, 281-285.
19. Irani, A. N., Malhi, H., Slehria, S., Gorla, G. R., Volenberg, I., Schilsky, M. L., and Gupta, S. (2001). Mol. Ther. 3, 302-309.
20. Kaler, S. G. (1998). Am. J. Clin. Nutr. 67(Suppl.), 1029-1034S.
21. Kaler, S. G., Das, S., Levinson, B., Goldstein, D. S., Holmes, C. S., Patronas, N. J., Packman, S., and Gahl, W. A. (1996). Biochem. Mol. Med. 57, 37-46.
22. Larin, D., Mekios, C., Das, K., Ross, B., Yang, A. S., and Gilliam, T. C. (1999). J. Biol. Chem. 274, 28497-28504.
23. Linder, M. C., and Hazegh Azam, M. (1996). Am. J. Clin. Nutr. 63, 797S-811S.
24. Lutsenko, S., Petrukhin, K., Cooper, M. J., Gilliam, C. T., and Kaplan, J. H. (1997). J. Biol. Chem. 272, 18939-18944.
25. Mercer, J. F., Livingston, J., Hall, B., Paynter, J. A., Begy, C., Chandrasekharappa, S., Lockhart, P., Grimes, A., Bhave, M., Siemieniak, D., and Glover, T. W. (1993). Nat. Genet. 3, 20-25.
26. Mitra, B., and Sharma, R. (2001). Biochemistry 40, 7694-7699.
27. Moller, L. B., Tumer, Z., Lund, C., Petersen, C., Cole, T., Hanusch, R., Seidel, J., Jensen, L. R., and Horn, N. (2000). Am. J. Hum. Genet. 66, 1211-1220.
28. Mollman, J. E., and Pleasure, D. E. (1980). J. Biol. Chem. 255, 569-574.
29. Oh, W. J., Kim, E. K., Ko, J. H., Yoo, S. H., Hahn, S. H., and Yoo, O. J. (2002). Eur J. Biochem. 269, 2151-2161.
30. Oh, W. J., Kim, E. K., Park, K. D., Hahn, S. H., and Yoo, O. J. (1999). Biochem. Biophys. Res. Commun. 259, 206-211.
31. Payne, A. S., and Gitlin, J. D. (1998). J. Biol. Chem. 273, 3765-3770.
32. Paynter, J. A., Grimes, A., Lockhart, P., and Mercer, J. F. (1994). FEBS Lett. 351, 186-190.
33. Petris, M. J., Camakaris, J., Greenough, M., LaFontaine, S., and Mercer, J. F. B. (1998). Hum. Mol. Genet. 7, 2063-2071.
34. Petris, M. J., Camakaris, J., Voskoboinik, I., Kim, B.-E., Smith, K., and Mercer, J. F. (2002). In 11th International Symposium on Trace Elements in Man and Medicine, June 2-6, Berkeley, CA, p. 108.
35. Petris, M. J., and Mercer, J. F. (1999). Hum. Mol. Genet. 8, 2107-2115.
36. Petris, M. J., Mercer, J. F., Culvenor, J. G., Lockhart, P., Gleeson, P. A., and Camakaris, J. (1996). EMBO J. 15, 6084-6095.
37. Rad, M. R., Kirchrath, L., and Hollenberg, C. P. (1994). Yeast 10, 1217-1225.
38. Rae, T. D., Schmidt, P. J., Pufahl, R. A., Culotta, V.C., and O'Halloran, T. V. (1999). Science 284, 805-808.
39. Rensing, C., Fan, B., Sharma, R., Mitra, B., and Rosen, B. P. (2000). Proc. Natl. Acad. Sci. U.S.A. 97, 652-656.
40. Rensing, C., Mitra, B., and Rosen, B. P. (1997). Proc. Natl. Acad. Sci. U.S.A. 94, 14326-14331.
41. Saari, J. T. (2000). Can. J. Physiol. Pharmacol. 78, 848-855.
42. Schilsky, M. L. (1994). Hepatology 20, 529-533.
43. Seidel, J., Birk Moller, L., Mentzel, H.-J., Kauf, E., Vogt, S., Patzer, S., Wollina, U., Zintl, F., and Horn, N. (2001). Cell. Mol. Biol. 47, 141-148.
44. Shiraishi, E., Inouhe, M., Joho, M., and Tohoyama, H. (2000). Curr. Genet. 37, 79-86.
45. Strausak, D., La Fontaine, S., Hill, J., Firth, S. D., Lockhart, P. J., and Mercer, J. F. (1999). J. Biol. Chem. 274, 11170-11177.
46. Tsai, K. J., and Linet, A. L. (1993). Arch. Biochem. Biophys. 305, 267-270.
47. Tsivkovskii, R., Eisses, J. F., Kaplan, J. H., and Lutsenko, S. (2002). J. Biol. Chem. 277, 976-983.
48. Tsivkovskii, R., MacArthur, B. C., and Lutsenko, S. (2001). J. Biol. Chem. 276, 2234-2242.
49. Tumer, Z., Lund, C., Tolshave, J., Vural, B., Tonnesen, T., and Horn, N. (1997). Am. J. Hum. Genet. 60, 63-71.
50. Tumer, Z., Moller, L. B., and Horn, N. (1999). Adv. Exp. Med. Biol. 448, 83-95.
51. Vanderwerf, S. M., Cooper, M. J., Stetsenko, I. V., and Lutsenko, S. (2001). J. Biol. Chem. 276, 36289-36294.
52. Voskoboinik, I., Brooks, H., Smith, S., Shen, P., and Camakaris, J. (1998). FEBS Lett. 435, 178-182.
53. Voskoboinik, I., Greenough, M., La Fontaine, S., Mercer, J. F., and Camkaris, J. (2001a). Biochem. Biophys. Res. Commun. 281, 966-970.
54. Voskoboinik, I., Mar, J., Strausak, D., and Camakaris, J. (2001b). J. Biol. Chem. 276, 28620-28627.
55. Voskoboinik, I., Strausak, D., Greenough, M., Brooks, H., Petris, M., Smith, S., Mercer, J. F., and Camakaris, J. (1999). J. Biol. Chem. 274, 22008-22012.
56. Vulpe, C., Levinson, B., Whitney, S., and Gitschier, J. (1993). Nat. Genet. 3, 7-13.
57. Yoshida, Y., Tokusashi, Y., Lee, G. H., and Ogawa, K. (1996). Gastroenterology 111, 1654-1660
58. Yuan, D. S., Dancis, A., and Klausner, R. D. (1997). J. Biol. Chem. 272. 25787-25793.
59. Yuan, D. S., Stearman, R., Dancis, A., Dunn, T., Beeler, T., and Klausner, R. D. (1995). Proc. Natl. Acad. Sci. U. S. A. 92, 2632-2636.