Mutational analysis of the Menkes copper P-type ATPase (ATP7A)

Biochemical and Biophysical Research Communications

Volumn 301, Issue 2, 2003, Pages 488-494

  Voskoboinik, I ^a   Mar, J ^a   Camakaris, J ^a  

^a UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Copper; Menkes disease; P type ATPase; Wilson disease

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ASPARTIC ACID; COPPER; MENKES PROTEIN; MUTANT PROTEIN; PROTEIN DERIVATIVE; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CATALYSIS; CONTROLLED STUDY; ENZYME ANALYSIS; ENZYME BINDING; EXOCYTOSIS; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN TRANSPORT;

EID: 0037423739     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(03)00010-X     Document Type: Article

References (36)

1. Chelly J., Tumer Z., Tonnesen T., Petterson A., Ishikawa Brush Y., Tommerup N., Horn N., Monaco A.P. Nat. Genet. 3:1993;14-19.
2. Mercer J.F., Livingston J., Hall B., Paynter J.A., Begy C., Chandrasekharappa S., Lockhart P., Grimes A., Bhave M., Siemieniak D., Glover T.W. Nat. Genet. 3:1993;20-25.
3. Vulpe C., Levinson B., Whitney S., Packman S., Gitschier J. Nat. Genet. 3:1993;7-13.
4. Danks D.M. Scriver C.R., Beaudet A.L., Sly W.V., Valle D. The Metabolic Basis of Inherited Disease. 1995;2211-2235 McGraw-Hill, New York.
5. Bull P.C., Thomas G.R., Rommens J.M., Forbes J.R., Cox D.W. Nat. Genet. 5:1993;327-337.
6. Tanzi R.E., Petrukhin K., Chernov I., Pellequer J.L., Wasco W., Ross B., Romano D.M., Parano E., Pavone L., Brzustowicz L.M., Devoto M., Peppercorn J., Bush A.I., Sternlieb I., Evgrafov O., Pirastu M., Gusella J.F., Penchaszadeh G.K., Honig B., Edelman I.S., Soares M.B., Scheinberg I.H., Gilliam T.C. Nat. Genet. 5:1993;344-350.
7. Yamaguchi Y., Heiny M.E., Gitlin J.D. Biochem. Biophys. Res. Commun. 197:1993;271-277.
8. Voskoboinik I., Brooks H., Smith S., Shen P., Camakaris J. FEBS Lett. 435:1998;178-182.
9. Voskoboinik I., Mar J., Strausak D., Camakaris J. J. Biol. Chem. 276:2001;28620-28627.
10. Møller J.V., Juul B., le Maire M. Biochim. Biophys. Acta. 1286:1996;1-51.
11. Axelsen K.B., Palmgren M.G. J. Mol. Evol. 46:1998;84-101.
12. Petris M.J., Mercer J.F., Culvenor J.G., Lockhart P., Gleeson P.A., Camakaris J. EMBO J. 15:1996;6084-6095.
13. Francis M.J., Jones E.E., Levy E.R., Ponnambalam S., Chelly J., Monaco A.P. Hum. Mol. Genet. 7:1998;1245-1252.
14. Petris M.J., Camakaris J., Greenough M., LaFontaine S., Mercer J.F.B. Hum. Mol. Genet. 7:1998;2063-2071.
15. Strausak D., La Fontaine S., Hill J., Firth S.D., Lockhart P.J., Mercer J.F. J. Biol. Chem. 274:1999;11170-11177.
16. Ambrosini L., Mercer J.F. Hum. Mol. Genet. 8:1999;1547-1555.
17. Forbes J.R., Cox D.W. Hum. Mol. Genet. 9:2000;1927-1935.
18. La Fontaine S., Theophilos M.B., Firth S.D., Gould R., Parton R.G., Mercer J.F. Hum. Mol. Genet. 10:2001;361-370.
19. Petris M.J., Voskoboinik I., Cater M., Smith K., Kim B.E., Llanos R.M., Strausak D., Camakaris J., Mercer J.F. J. Biol. Chem. 277:2002;46736-46742.
20. Voskoboinik I., Strausak D., Greenough M., Brooks H., Petris M., Smith S., Mercer J.F., Camakaris J. J. Biol. Chem. 274:1999;22008-22012.
21. Claros M.G., Canovas F.M. Embnet News. 5:1998;5-7.
22. Bradford M.M. Anal. Biochem. 72:1976;248-254.
23. La Fontaine S., Firth S.D., Lockhart P.J., Brooks H., Parton R.G., Camakaris J., Mercer J.F. Hum. Mol. Genet. 7:1998;1293-1300.
24. Seidel J., Caca K., Schwab S.G., Berr F., Wildenauer D.B., Mentzel H.J., Horn N., Kauf E. Cell. Mol. Biol. (Noisy-le-grand). 47:2001;OL149-OL157.
25. Payne A.S., Gitlin J.D. J. Biol. Chem. 273:1998;3765-3770.
26. Gribble F.M., Loussouarn G., Tucker S.J., Zhao C., Nichols C.G., Ashcroft F.M. J. Biol. Chem. 275:2000;30046-30049.
27. Payne A.S., Kelly E.J., Gitlin J.D. Proc. Natl. Acad. Sci. USA. 95:1998;10854-10859.
28. Bissig K.D., Wunderli-Ye H., Duda P.W., Solioz M. Biochem. J. 357:2001;217-223.
29. Okkeri J., Bencomo E., Pietila M., Haltia T. Eur. J. Biochem. 269:2002;1579-1586.
30. Yoshida Y., Tokusashi Y., Lee G.H., Ogawa K. Gastroenterology. 111:1996;1654-1660.
31. Moller L.B., Tumer Z., Lund C., Petersen C., Cole T., Hanusch R., Seidel J., Jensen L.R., Horn N. Am. J. Hum. Genet. 66:2000;1211-1220.
32. Farley R.A., Elquza E., Muller-Ehmsen J., Kane D.J., Nagy A.K., Kasho V.N., Faller L.D. Biochemistry. 40:2001;6361-6370.
33. Farley R.A., Heart E., Kabalin M., Putnam D., Wang K., Kasho V.N., Faller L.D. Biochemistry. 36:1997;941-951.
34. Kasho V.N., Stengelin M., Smirnova I.N., Faller L.D. Biochemistry. 36:1997;8045-8052.
35. Portillo F. Biochim. Biophys. Acta. 1468:2000;99-106.
36. Rost B., Fariselli P., Casadio R. Protein Sci. 5:1996;1704-1718.