The GM2 activator protein, its roles as a co-factor in GM2 hydrolysis and as a general glycolipid transport protein

Biochimica et Biophysica Acta - Lipids and Lipid Metabolism

Volumn 1393, Issue 1, 1998, Pages 1-18

  Mahuran, Don J ^a,b  

^a HOSPITAL FOR SICK CHILDREN RESEARCH INSTITUTE   (Canada)

^b UNIVERSITY OF TORONTO   (Canada)

Author keywords

Glycolipid transport protein; GM2 gangliosidosis; Lysosomal protein; Saposin; Sphingolipid activator protein (SAP)

Indexed keywords

BETA N ACETYLHEXOSAMINIDASE A; CARRIER PROTEIN; GANGLIOSIDE; GANGLIOSIDE GM2; GLYCOLIPID; SECRETORY PROTEIN;

ENZYME ACTIVATION; HUMAN; INTRACELLULAR TRANSPORT; LIPID TRANSPORT; LYSOSOME; LYSOSOME STORAGE DISEASE; NEUROLOGIC DISEASE; PH; PRIORITY JOURNAL; PROTEIN LIPID INTERACTION; REVIEW; TAY SACHS DISEASE;

ANIMALS; BETA-N-ACETYLHEXOSAMINIDASE; BIOLOGICAL TRANSPORT; G(M2) ACTIVATOR PROTEIN; G(M2) GANGLIOSIDE; GANGLIOSIDOSES; GLYCOLIPIDS; HUMANS; HYDROLYSIS; LIPOSOMES; PROTEINS;

EID: 0032584510     PISSN: 00052760     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0005-2760(98)00057-5     Document Type: Review

References (110)

1. Li Y.-T., Mazzotta M.Y., Wan C.-C., Orth R., Li S.-C. J. Biol. Chem. 248:1973;7512-7515.
2. Conzelmann E., Sandhoff K. Proc. Natl. Acad. Sci. USA. 75:1978;3979-3983.
3. Hechtman P., LeBlanc D. Biochem. J. 167:1977;693-701.
4. Tay W. Trans. Ophthalmol. Soc. UK. 1:1881;155-157.
5. Sachs B. J. Nerv. Ment. Dis. 21:1896;475-479.
6. Klenk E. Hoppe-Seyler's Z. Physiol. Chem. 262:1939;128-134.
7. Svennerholm L. Biochem. Biophys. Res. Commun. 9:1962;436.
8. Makita A., Yamakawa T. Jpn. J. Exp. Med. 33:1963;361.
9. Ledeen R., Salsman K. Biochemistry. 4:1965;2225.
10. Nakai H., Byers M.G., Nowak N.J., Shows T.B. Cytogenet. Cell Genet. 56:1991;164-164.
11. Bikker H., Meyer M.F., Merk A.C., de Vijlder J.J., Bolhuis P.A. Nucleic Acids Res. 16:1988;8198-8198.
12. D.J. Mahuran, in: D. Swallow, Y. Edwards (Eds.), Protein Disfunction in Human Genetic Disease, 1st edn., Bios Scientific, Oxford, 1997, pp. 99-117.
13. R.A. Gravel, J.T.R. Clarke, M.M. Kaback, D. Mahuran, K. Sandhoff, K. Suzuki, in: C.R. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic and Molecular Bases of Inherited Disease, Vol. 2, 7th edn., McGraw-Hill, New York, 1995, pp. 2839-2879.
14. Mahuran D., Novak A., Lowden J.A. Isozymes Curr. Top. Biol. Med. Res. 12:1985;229-288.
15. Heng H.H.Q., Xie B., Shi X.-M., Tsui L.-C., Mahuran D.J. Genomics. 18:1993;429-431.
16. Li S.-C., Hirabayashi Y., Li Y.-T. J. Biol. Chem. 256:1981;6234-6240.
17. Wu Y.Y., Lockyer J.M., Sugiyama E., Pavlova N.V., Li Y.-T., Li S.-C. J. Biol. Chem. 269:1994;16276-16283.
18. O'Brien J.S., Kretz K.A., Dweji N., Wenger D.A., Esch F., Fluharty A.L. Science. 241:1988;1098-1101.
19. Burg J., Conzelmann E., Sandhoff K., Solomon E., Swallow D.M. Ann. Hum. Genet. 49:1985;41-45.
20. Xie B., Kennedy J.L., McInnes B., Auger D., Mahuran D. Genomics. 14:1992;796-798.
21. Schröder M., Klima H., Nakano T., Kwon H., Quintern L.E., Gärtner S., Suzuki K., Sandhoff K. FEBS Lett. 251:1989;197-200.
22. Burg J., Banerjee A., Sandhoff K. Biol. Chem. Hoppe-Seyler. 366:1985;887-891.
23. Wynn C.H. Biochem. J. 240:1986;921.
24. Fürst W., Sandhoff K. Biochim. Biophys. Acta. 1126:1992;1-16.
25. Li S.C., Sonnino S., Tettamanti G., Li Y.T. J. Biol. Chem. 263:1988;6588-6591.
26. Vogel A., Schwarzmann G., Sandhoff K., Ando M., Tatematsu T., Kunii S., Nagata Y. Eur. J. Biochem. 200:1991;591-597.
27. Fürst W., Schubert J., Machleidt W., Meyer H.E., Sandhoff K. Eur. J. Biochem. 192:1990;709-714.
28. Xie B., McInnes B., Neote K., Lamhonwah A.-M., Mahuran D. Biochem. Biophys. Res. Commun. 177:1991;1217-1223.
29. Xie B., Rigat B., Smiljanic-Georgijev N., Deng H., Mahuran D.J. Biochemistry. 37:1998;814-821.
30. Glombitza G.J., Becker E., Kaiser H.W., Sandhoff K. J. Biol. Chem. 272:1997;5199-5207.
31. Rigat B., Wang W., Leung A., Mahuran D.J. Biochemistry. 36:1997;8325-8331.
32. Kornfeld R., Kornfeld S. Annu. Rev. Biochem. 54:1985;631-664.
33. Bach G., Bargel R., Cantz M. Biochem. Biophys. Res. Commun. 91:1979;976-981.
34. Kornfeld S. J. Clin. Invest. 77:1986;1-6.
35. C.M. Nolan, W.S. Sly, in: C.V. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, Vol. 2, 6th edn., McGraw-Hill, New York, 1989, pp. 1589-1601.
36. Griffiths G., Hoflack B., Simons K., Mellman I., Kornfeld S. Cell. 52:1988;329-341.
37. Goda Y., Pfeffer S. Cell. 55:1988;309-320.
38. A.L. Miller, H.H. Freeze, B.C. Kress, in: J.W. Callahan, J.A. Lowden (Eds.), Lysosomes and Lysosomal Storage Diseases, Raven Press, New York, 1981, pp. 115-129.
39. Aerts J.M.F.G., Schram A.W., Strijland A., Van Weely S., Jonsson L.M.V., Tager J.M., Sorrell S.H., Ginns E.I., Barranger J.A., Murray G.J. Biochim. Biophys. Acta. 964:1988;303-308.
40. Rijnboutt S., Aerts H., Geuze H.J., Tager J.M., Strous G.J. J. Biol. Chem. 266:1991;4862-4868.
41. Zhu Y., Conner G.E. J. Biol. Chem. 269:1994;3846-3851.
42. Vielhaber G., Hurwitz R., Sandhoff K. J. Biol. Chem. 271:1996;32438-32446.
43. Klima H., Klein A., Van Echten G., Schwarzmann G., Suzuki K., Sandhoff K. Biochem. J. 292:1993;571-576.
44. Maxzúd M.K., Maccioni H.J.F. Neurochem. Res. 22:1997;455-461.
45. Huang J.Q., Trasler J.M., Igdoura S., Michaud J., Hanai N., Gravel R.A. Hum. Mol. Genet. 6:1997;1879-1885.
46. Van Echten G., Sandhoff K. J. Biol. Chem. 268:1993;5341-5344.
47. K. Sandhoff, E. Conzelmann, E.F. Neufeld, M.M. Kaback, K. Suzuki, in: C.V. Scriver, A.L. Beaudet, W.S. Sly, D. Valle (Eds.), The Metabolic Basis of Inherited Disease, Vol. 2, 6th edn., McGraw-Hill, New York, 1989, pp. 1807-1839.
48. Rahmann H. Behav. Brain Res. 66:1995;105-116.
49. Hakomori S.-i. Annu. Rev. Biochem. 50:1981;733-764.
50. Tiemeyer M., Swank-Hill P., Schnaar R.L. J. Biol. Chem. 265:1990;11990-11999.
51. Yang L.J., Zeller C.B., Shaper N.L., Kiso M., Hasegawa A., Shapiro R.E., Schnaar R.L. Proc. Natl. Acad. Sci. USA. 93:1996;814-818.
52. Hakomori S., Igarashi Y. Adv. Lipid Res. 25:1993;147-162.
53. Tettamanti G., Riboni L. Adv. Lipid Res. 25:1993;235-267.
54. Miyake M., Hashimoto K., Ito M., Ogawa O., Arai E., Hitomi S., Kannagi R. Cancer. 65:1990;499-505.
55. Taki T., Ishikawa D., Ogura M., Nakajima M., Handa S. Cancer Res. 57:1997;1882-1888.
56. Hakomori S. Cancer Res. 56:1996;5309-5318.
57. Yates A.J., Saqr H.E., Van Brocklyn J. J. Neuro-Oncol. 24:1995;65-73.
58. Mutoh T., Tokuda A., Miyadai T., Hamaguchi M., Fujiki N. Proc. Natl. Acad. Sci. USA. 92:1995;5087-5091.
59. Ferrari G., Anderson B.L., Stephens R.M., Kaplan D.R., Greene L.A. J. Biol. Chem. 270:1995;3074-3080.
60. Rabin S.J., Mocchetti I. J. Neurochem. 65:1995;347-354.
61. De Maria R., Lenti L., Malisan F., d'Agostino F., Tomassini B., Zeuner A., Rippo M.R., Testi R. Science. 277:1997;1652-1655.
62. Heitger A., Ladisch S. Biochim. Biophys. Acta. 1303:1996;161-168.
63. Geiger B., Ben-Yoseph Y., Arnon R. FEBS Lett. 45:1974;276-281.
64. Mahuran D.J., Lowden J.A. Can. J. Biochem. 58:1980;287-294.
65. Banerjee A., Burg J., Conzelmann E., Carroll M., Sandhoff K. Biol. Chem. Hoppe-Seyler. 365:1984;347-356.
66. Conzelmann E., Sandhoff K. Hoppe-Seyler's Z. Physiol. Chem. 360:1979;1837-1849.
67. Hirabayashi Y., Li Y.-T., Li S.-C. J. Neurochem. 40:1983;168-175.
68. Meier E.M., Schwarzmann G., Fürst W., Sandhoff K. J. Biol. Chem. 266:1991;1879-1887.
69. Schröder M., Schnabel D., Suzuki K., Sandhoff K. FEBS Lett. 290:1991;1-3.
70. Nagarajan S., Chen H.C., Li S.C., Li Y.T., Lockyer J.M. Biochem. J. 282:1992;807-813.
71. Smiljanic-Georgijev N., Rigat B., Xie B., Wang W., Mahuran D.J. Biochim. Biophys. Acta. 1339:1997;192-202.
72. Conzelmann E., Burg J., Stephan G., Sandhoff K. Eur. J. Biochem. 123:1982;455-464.
73. Kuwana T., Mullock B.M., Luzio J.P. Biochem. Soc. Trans. 21:1993;299-300.
74. Kuwana T., Mullock B.M., Luzio J.P. Biochem. J. 308:1995;937-946.
75. Xie B., Mahuran D. Biochem. Biophys. Res. Commun. 201:1994;90-93.
76. Hama Y., Li Y.T., Li S.C. J. Biol. Chem. 272:1997;2828-2833.
77. Kytzia H.-J., Sandhoff K. J. Biol. Chem. 260:1985;7568-7572.
78. Hiraiwa M., Soeda S., Kishimoto Y., O'Brien J.S. Proc. Natl. Acad. Sci. USA. 89:1992;11254-11258.
79. O'Brien J.S., Carson G.S., Seo H.C., Hiraiwa M., Kishimoto Y. Proc. Natl. Acad. Sci. USA. 91:1994;9593-9596.
80. Benfenati F., Fuxe K., Agnati L.F. Neurochem. Int. 19:1991;271-279.
81. Hilbush B.S., Levine J.M. Proc. Natl. Acad. Sci. USA. 88:1991;5616-5620.
82. Goldenring J.R., Otis L.C., Yu R.K., DeLorenzo R.J. J. Neurochem. 44:1985;1229-1234.
83. Barnes P.J. J. Allergy Clin. Immunol. 92:1993;187-189.
84. Chao W., Olson M.S. Biochem. J. 292:1993;617-629.
85. Nassif A., Longo W.E., Mazuski J.E., Vernava A.M., Kaminski D.L. Dis. Colon Rectum. 39:1996;217-223.
86. Burg J., Banerjee A., Conzelmann E., Sandhoff K. Hoppe-Seyler's Z. Physiol. Chem. 364:1983;821-829.
87. Yuziuk J.A., Bertoni C., Beccan T., Orlacchio A., Wu Y.-Y., Li S.-C., Li Y.-T. J. Biol. Chem. 273:1998;66-72.
88. Hou Y., Tse R., Mahuran D.J. Biochemistry. 35:1996;3963-3969.
89. Tse R., Wu Y.J., Vavougios G., Hou Y., Hinek A., Mahuran D.J. Biochemistry. 35:1996;10894-10903.
90. Yadao F., Hechtman P., Kaplan F. Biochim. Biophys. Acta. 1340:1997;45-52.
91. Li S.C., Wu Y.Y., Sugiyama E., Taki T., Kasama T., Casellato R., Sonnino S., Li Y.T. J. Biol. Chem. 270:1995;24246-24251.
92. Li S.-C., Serizawa S., Li Y.-T., Nakamura K., Hanita S. J. Biol. Chem. 259:1984;5409-5410.
93. Itoh T., Li Y.T., Li S.C., Yu R.K. J. Biol. Chem. 256:1981;165-169.
94. Legler G., Bollhagen R. Carbohydrate Res. 233:1992;113-123.
95. Tews I., Perrakis A., Oppenheim A., Dauter Z., Wilson K.S., Vorgias C.E. Nature Struct. Biol. 3:1996;638-648.
96. Cornette J.L., Cease K.B., Margalit H., Spouge J.L., Berzofsky J.A., DeLisi C. J. Mol. Biol. 195:1987;659-685.
97. Garnier J., Osguthorpe D.J., Robson B. J. Mol. Biol. 120:1978;97-120.
98. Klima H., Tanaka A., Schnabel D., Nakano T., Schröder M., Suzuki K., Sandhoff K. FEBS Lett. 289:1991;260-264.
99. Wu Y.Y., Sonnino S., Li Y.T., Li S.C. J. Biol. Chem. 271:1996;10611-10615.
100. Xie B., Wang W., Mahuran D.J. Am. J. Hum. Genet. 50:1992;1046-1052.
101. Mahuran D.J. Biochim. Biophys. Acta. 1096:1991;87-94.
102. Pennybacker M., Liessem B., Moczall H., Tifft C.J., Sandhoff K., Proia R.L. J. Biol. Chem. 271:1996;17377-17382.
103. Dlott B., D'Azzo A., Quon D.V.K., Neufeld E.F. J. Biol. Chem. 265:1990;17921-17927.
104. Leinekugel P., Michel S., Conzelmann E., Sandhoff K. Hum. Genet. 88:1992;513-523.
105. McInnes B., Potier M., Wakamatsu N., Melancon S.B., Klavins M.H., Tsuji S., Mahuran D.J. J. Clin. Invest. 90:1992;306-314.
106. Bayleran J., Hechtman P., Saray W. Clin. Chim. Acta. 143:1984;73-89.
107. Ben-Yoseph Y., Reid J.E., Shapiro B., Nadler H.L. Am. J. Hum. Genet. 37:1985;733-748.
108. Liu Y.J., Hoffmann A., Grinberg A., Westphal H., McDonald M.P., Miller K.M., Crawley J.N., Sandhoff K., Suzuki K., Proia R.L. Proc. Natl. Acad. Sci. USA. 94:1997;8138-8143.
109. Phaneuf D., Wakamatsu N., Huang J.Q., Borowski A., Peterson A.C., Fortunato S.R., Ritter G., Igdoura S.A., Morales C.R., Benoit G., Akerman B.R., Leclerc D., Hanai N., Marth J.D., Trasler J.M., Gravel R.A. Hum. Mol. Genet. 5:1996;1-14.
110. Sango K., Yamanaka S., Hoffmann A., Okuda Y., Grinberg A., Westphal H., McDonald M.P., Crawley J.N., Sandhoff K., Suzuki K., Proia R.L. Nature Genet. 11:1995;170-176.