Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

Journal of Biological Chemistry

Volumn 279, Issue 21, 2004, Pages 22347-22352

  Heine, Claudia ^a   Koch, Bettina ^a   Storch, Stephan ^a   Kohlschütter, Alfried ^a   Palmer, David N ^b   Braulke, Thomas ^a,c  

^a UNIVERSITY OF HAMBURG   (Germany)

^b LINCOLN UNIVERSITY   (New Zealand)

^c UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

BIOMARKERS; CELL MEMBRANES; DETERIORATION; IMMUNOLOGY; LIPIDS; MUTAGENESIS; POLYPEPTIDES;

ENDOPLASMIC RETICULUM; POLYTOPIC MEMBRANE PROTEINS;

PROTEINS;

CATHEPSIN D; CEREBROSIDE SULFATASE; COMPLEMENTARY DNA; DIMER; EPITOPE; MEMBRANE PROTEIN; POLYPEPTIDE; PROTEIN CLN6; UNCLASSIFIED DRUG;

ANIMAL CELL; ANIMAL MODEL; ARTICLE; BLINDNESS; CONTROLLED STUDY; CROSS LINKING; ENDOCYTOSIS; ENDOPLASMIC RETICULUM; ENZYME DEGRADATION; ENZYME SYNTHESIS; FIBROBLAST; GENETIC TRANSFECTION; GLYCOSYLATION; GOLGI COMPLEX; IMMUNOBLOTTING; IMMUNOFLUORESCENCE MICROSCOPY; IMMUNOPRECIPITATION; LIPOFUSCINOSIS; LYSOSOME; LYSOSOME STORAGE DISEASE; MENTAL DETERIORATION; MOUSE; MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROCESSING; PROTEIN TARGETING; SHEEP;

ANIMALS; BIOTINYLATION; BLOTTING, WESTERN; CATHEPSIN D; CELL LINE; CELL MEMBRANE; CEREBROSIDE-SULFATASE; CLONING, MOLECULAR; CRICETINAE; CROSS-LINKING REAGENTS; DNA, COMPLEMENTARY; ELECTROPHORESIS, POLYACRYLAMIDE GEL; ENDOCYTOSIS; ENDOPLASMIC RETICULUM; EPITOPES; FIBROBLASTS; GLYCOSYLATION; GOLGI APPARATUS; HUMANS; IMMUNOBLOTTING; LIGANDS; LYSOSOMES; MEMBRANE PROTEINS; MICE; MICE, INBRED C57BL; MICROSCOPY, FLUORESCENCE; MUTATION; PEPTIDES; PRECIPITIN TESTS; PROTEIN FOLDING; SHEEP; TRANSFECTION;

ANIMALIA; OVIS ARIES;

EID: 2542482500     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.M400643200     Document Type: Article

References (54)

1. Goebel, H. H., Schochet, S. S., Jaynes, M., Bruck, W., Kohlschütter, A., and Hentati, F. (1999) Mol. Genet. Metab. 66, 367-372
2. Haltia, M. (2003) J. Neuropathol. Exp. Neurol. 62, 1-13
3. Hellsten, E., Vesa, J., Olkkonen, V. M., Jalanko, A., and Peltonen, L. (1996) EMBO J. 15, 5240-5245
4. Vines, D., and Warburton, M. J. (1999) FEBS Lett. 443, 131-135
5. Lin, L., Sohar, I., Lackland, H., and Lobel, P. (2001) J. Biol. Chem. 276, 2249-2255
6. Janes, R. W., Munroe, P. B., Mitchison, H. M., Gardiner, R. M., Mole, S. E., and Wallace, B. A. (1996) FEBS Lett. 399, 75-77
7. Savukoski, M., Klockars, T., Holmberg, V., Santavuori, P., Lander, E. S., and Peltonen, L. (1998) Science 277, 1802-1805
8. Ranta, S., Zhang, Y., Ross, B., Lonka, L., Takkunen, E., Messer, A., Sharp, J., Wheeler, R., Kusumi, K., Mole, S., Liu, W., Soares, M. B., Bonaldo, M. F., Hirvasniemi, A., de la Chapelle, A., Gilliam, T. C., and Lehesjoki, A. E. (1999) Nat. Genet. 23, 233-236
9. Wheeler, R. B., Sharp, J. D., Schultz, R. A., Joslin, J. M., Williams, R. E., and Mole, S. E. (2002) Am. J. Hum. Genet. 70, 537-542
10. Gao, H., Boustany, R. M., Espinola, J. A., Cotman, S. L., Srinidhi, L., Antonellis, K. A., Gillis, T., Qin, X., Liu, S., Donahue, L. R., Bronson, R. T., Faust, J. R., Stout, D., Haines, J. L., Lerner, T. J., and MacDonald, M. E. (2002) Am. J. Hum. Genet. 70, 324-335
11. Palmer, D. N., Fearnley, I. M., Walker, J. E., Hall, N. A., Lake, B. D., Wolfe, L. S., Haltia, M., Martinus, R. D., and Jolly, R. D. (1992) Am. J. Med. Genet. 42, 561-567
12. Palmer, D. N., Jolly, R. D., van Mil, H. C., Tyynelä, J., and Westlake, V. J. (1997) Neuropediatrics 28, 45-48
13. Braulke, T. (1996) in Subcellular Biochemistry: Biology of the Lysosome (Lloyd, J. B., and Mason, R. W., eds) Vol. 27, pp. 15-49, Plenum Press, New York
14. Järvelä, I., Lehtovirta, M., Tikknen, R., Kyttälä, A., and Jalanko, A. (1999) Hum. Mol. Genet. 8, 1091-1098
15. Isosomppi, J., Vesa, J., Jalanko, A., and Peltonen, L. (2002) Hum. Mol. Genet. 11, 885-891
16. Lonka, L., Kyttälä, A., Ranta, S., Jalanko, A., and Lehesjoki, A.-E. (2000) Hum. Mol. Genet. 9, 1691-1697
17. Bonifacino, J. S., and Dell'Angelica, E. C. (1999) J. Cell Biol. 145, 923-926
18. Kyttälä, A., Ihrke, G., Vesa, J., Schell, M. J., and Luzio, J. P. (2004) Mol. Biol. Cell 15, 1313-1323
19. Sharp, J. D., Wheeler, R. B., Parker, K. A., Gardiner, R. M., Williams, R. E., and Mole, S. E. (2003) Hum. Mutat. 22, 35-42
20. Teixeira, C., Guimaraes, A., Bessa, C., Ferreira, M. J., Lopes, L., Pinto, E., Pinto, R., Boustany, R. M., Sa Miranda, M. C., and Ribeiro, M. G. (2003) J. Neurol. 250, 661-667
21. Teixeira, C. A., Espinola, J., Huo, L., Kohlschütter, J., Persaud Sawin, D. A., Minassian, B., Bessa, C. J., Guimaraes, A., Stephan, D. A., Sa Miranda, M. C., MacDonald, M. E., Ribeiro, M. G., and Boustany, R. M. (2003) Hum. Mutat. 21, 502-508
22. Jolly, R. D., and Walkley, S. U. (1999) Mol. Genet. Metab. 66, 376-380
23. Bronson, R. T., Donahue, L. R., Johnson, K. R., Tanner, A., Lane, P. W., and Faust, J. R. (1998) Am. J. Med. Genet. 77, 289-297
24. Cook, R. W., Jolly, R. D., Palmer, D. N., Tammen, I., Broom, M. F., and McKinnon, R. (2002) Aust. Vet. J. 80, 292-297
25. Heine, C., Tyynelä, J., Cooper, J. D., Palmer, D. N., Elleder, M., Kohlschütter, A., and Braulke, T. (2003) Biochem. J. 376, 369-376
26. Palmer, D. N., Husbands, D. R., and Jolly, R. D. (1985) Biochim. Biophys. Acta 834, 159-163
27. Dierks, T., Schmidt, B., and von Figura, K. (1997) Proc. Natl. Acad. Sci. U. S. A. 94, 11963-11968
28. Hasilik, A., and Neufeld, E. F. (1980) J. Biol. Chem. 255, 4937-4945
29. Körner, C., Nurnberg, B., Uhde, M., and Braulke, T. (1995) J. Biol. Chem. 270, 287-295
30. Claussen, M., Kübler, B., Wendland, M., Neifer, K., Schmidt, B., Zapf, J., and Braulke, T. (1997) Endocrinology 138, 3797-3803
31. Zwad, O., Kübler, B., Roth, W., Scharf, J. G., Saftig, P., Peters, C., and Braulke, T. (2002) FEBS Lett. 510, 211-215
32. Partanen, S., Storch, S., Löffler, H.-G., Hasilik, A., Tyynelä, J., and Braulke, T. (2003) Biochem. J. 369, 55-62
33. Muschol, N., Matzner, U., Tiede, S., Gieselmann, V., Ullrich, K., and Braulke, T. (2002) Biochem. J. 368, 845-853
34. Meyer, C., Eskelinen, E. L., Guruprasad, M. R., von Figura, K., and Schu, P. (2001) J. Cell Sci. 114, 4469-4476
35. Damke, H., von Figura, K., and Braulke, T. (1992) Biochem. J. 281, 225-229
36. Rosorius, O., Issinger, O. G., and Braulke, T. (1993) J. Biol. Chem. 268, 21470-21473
37. Breuer, P., Körner, C., Böker, C., Herzog, A., Pohlmann, R., and Braulke, T. (1997) Mol. Biol. Cell 8, 567-576
38. Parker, K. C., and Strominger, J. L. (1983) Biochemistry 22, 1145-1153
39. Porter, M. T., Fluharty, A. L., and Kihara, H. (1969) Proc. Natl. Acad. Sci. U. S. A. 62, 887-891
40. von Figura, K. (1978) Exp. Cell Res. 111, 15-21
41. Hardt, B., Kalz-Fuller, B., Aparicio, R., Volker, C., and Bause, E. (2003) Glycobiology 13, 159-168
42. Gieselmann, V., Pohlmann, R., Hasilik, A., and von Figura, K. (1983) J. Cell Biol. 97, 1-5
43. Stein, M., Zijderhand-Bleekemolen, J. E., Geuze, H., Hasilik, A., and von Figura, K. (1987) EMBO J. 6, 2677-2681
44. Schutze, M. P., Peterson, P. A., and Jackson, M. R. (1994) EMBO J. 13, 1696-1705
45. Cosson, P., and Letourneur, F. (1997) Curr. Opin. Cell Biol. 9, 484-487
46. Margeta-Mitrovic, M., Jan, Y. N., and Jan, L. Y. (2000) Neuron 27, 97-106
47. Ren, Z., Riley, N. J., Garcia, E. P., Sanders, J. M., Swanson, G. T., and Marshall, J. (2003) J. Neurosci. 23, 6608-6616
48. Scott, D. B., Blanpied, T. A., Swanson, G. T., Zhang, C., and Ehlers, M. D. (2001) J. Neurosci. 21, 3063-3072
49. Maza, J., Mateescu, M., Sarma, J. D., and Koval, M. (2003) Cell Commun. Adhesion 10, 319-322
50. Ren, Z., Riley, N. J., Needleman, L. A., Sanders, J. M., Swanson, G. T., and Marshall, J. (2003) J. Biol. Chem. 278, 52700-52709
51. Steckel, F., Hasilik, A., and von Figura, K. (1985) Eur. J. Biochem. 151, 141-145
52. Steckel, F., Hasilik, A., and von Figura, K. (1985) Eur. J. Biochem. 151, 147-152
53. von Bülow, R., Schmidt, B., Dierks, T., Schwabauer, N., Schilling, K., Weber, E., Uson, I., and von Figura, K. (2002) J. Biol. Chem. 277, 9455-9461
54. Hu, W., Gray, N. W., and Brimijoin, S. (2003) J. Neurochem. 86, 470-478