Recent advances in the biochemistry of sphingolipidoses

Brain Pathology

Volumn 8, Issue 1, 1998, Pages 79-100

  Kolter, Thomas ^a   Sandhoff, Konrad ^a  

^a UNIVERSITY OF BONN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A; ACYLSPHINGOSINE DEACYLASE; ACYLTRANSFERASE; BETA GALACTOSIDASE; BETA N ACETYLHEXOSAMINIDASE A; CERAMIDE; DIACYLGLYCEROL; GALACTOSYLCERAMIDASE; GANGLIOSIDE GM2; GLYCOSPHINGOLIPID; GLYCOSYLTRANSFERASE; HYDROLASE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LIPID; MIGLUSTAT; OLIGOSACCHARIDE; OXIDOREDUCTASE; PHOSPHOLIPASE C; PSYCHOSINE; SERINE; SIALIDASE; SPHINGANINE; SPHINGOLIPID; SPHINGOLIPID ACTIVATOR PROTEIN; SPHINGOMYELIN; SPHINGOMYELIN PHOSPHODIESTERASE; SPHINGOSINE; SPHINGOSINE 1 PHOSPHATE; SULFATASE; UNINDEXED DRUG;

BIOSYNTHESIS; CONFERENCE PAPER; DEGRADATION; ENDOCYTOSIS; ENZYME REPLACEMENT; FARBER DISEASE; GALACTOSIALIDOSIS; GENE; GENE MUTATION; GENE THERAPY; GLOBOID CELL LEUKODYSTROPHY; GM2 GANGLIOSIDOSIS; HUMAN; LIPIDOSIS; LYSOSOME STORAGE DISEASE; METABOLISM; METACHROMATIC LEUKODYSTROPHY; MULTIPLE SULFATASE DEFICIENCY; NIEMANN PICK DISEASE; NONHUMAN; ORAL DRUG ADMINISTRATION; ORGAN TRANSPLANTATION; SECOND MESSENGER; SIGNAL TRANSDUCTION; TAY SACHS DISEASE;

EID: 0031973892     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00138.x     Document Type: Conference Paper

References (155)

1. Ballabio A, Shapiro LJ (1995) Steroid sulfatase deficiency and X-linked ichthyosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 96, pp. 2999-3022, McGraw-Hill: New York
2. Barton NW, Furrish FS, Murray GJ, Garfield M, Brady RO (1990) Therapeutic response to intravenous infusions of glucocerebrosidase in a patient with Gaucher disease. Proc Natl Acad Sci USA 87: 1913-1916
3. Bernardo K, Hurwitz R, Zenk T, Desnick RJ, Ferlinz K, Schuchman EH, Sandhoff K (1995) Purification, characterization, and biosynthesis of human acid ceramidase. J Biol Chem 270: 11098-11102
4. Bielawska A, Crane HM, Liotta D, Obeid LM, Hannun YA (1993) Selectivity of ceramide-mediated biology - lack of activity of erythro-dihydroceramide. J Biol Chem 268: 26226-26232
5. Bradova V, Smid F, Ulrich-Bott B, Roggendorf W, Paton BC, Harzer K (1993) Prosaposin deficiency: further characterization of the sphingolipid activator protein-deficient sibs. Multiple glycolipid elevations (including lactosylceramidosis), partial enzyme deficiencies and ultrastructure of the skin in this generalized sphingolipid storage disease. Hum Genet 92: 143-152
6. Braulke T (1996) Origin of lysosomal proteins. Subcellular Biochemistry 29: 15-49
7. Brooks DA (1997) Protein processing: a role in the pathophysiology of genetic disease. FEBS Lett 409: 115-120
8. Buehrer BM, Bell RM (1993) Sphingosine Kinase: Properties and Cellular Function. Adv Lipid Res 26: 59-67
9. Burkhardt JK, Hüttler S, Klein A, Möbius W, Habermann A, Griffiths G, Sandhoff K (1997) Accumulation of sphingolipids in SAP-precursor (prosaposin) deficient fibroblasts occurs as intralysosomal membrane structures and can be completely reversed by treatment with human SAP-precursor. Eur J Biochem 73: 10-18
10. Carstea ED, Morris JA, Coleman KG, Loftus SK, Zhang D, Cummings C, Gu J, Rosenfeld MA, Pavan WJ, Krizman DB, Nagle J, Polymeropoulos MH, Sturley SL, loannou YA, Higgins ME, Comly M, Cooney A, Brown A, Kaneski CR, Blanchette Mackie EJ, Dwyer NK, Neufeld EB, Chang T, Liscum L, Strauss JF, Ohno K, Zeigler M, Carni R, Sokol J, Markie D, O'Neill RR, van Diggelen OP, Elleder M, Patterson MC, Brady RO, Vanier MT, Pentchev PG, Tagle DA (1997) Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis. Science 277: 228-231
11. Chatterjee S, Gosh N, Khurana S (1992) Purification of undine-diphosphate-galactose: glucosyl ceramide, (1-4 galactosyltransferase from human kidney. J Biol Chem 267: 7148-7153
12. Chen YQ, Rafi MA, deGala G, Wenger DA (1993) Cloning and expression of cDNA encoding human galactocerebrosidase, the enzyme deficient in globoid cell leukodystrophy. Hum Mol Genet 2: 1841-1845
13. Chen YQ, Wenger DA (1993) Galactocerebrosidase from human urine: purification and partial characterization. Biochim Biophys Acta 1170: 53-61
14. Christomanou H, Aignesberg A, Linke RP (1986) Immunochemical characterization of two activator proteins stimulating enzymic sphingomyelin degradation in vitro - Absence of one of them in a human Gaucher disease variant. Biol Chem Hoppe-Seyler 367: 879-890
15. Cohen-Tannoudji M, Marchand P, Akli S, Sheardown SA, Peuch JP, Kress C, Grassens P, Nassogne MC, Beccari T, Muggleton-Harris AL, Evrard P, Stirling JL, Poenaru L, Babinet C (1995) Disruption of murine Hexa gene leads to enzymatic deficiency and to neuronal lysosomal storage, similar to that observed in Tay-Sachs disease. Mam Genome 6: 844-849
16. Conzelmann E, Sandhoff K (1983/84) Partial enzyme deficiencies: Residual activities and the development of neurological disorders. Dev Neurosci 6: 58-71
17. d'Azzo A, Andria G, Strisciuglio P, Galjaard H (1995) Galactosialidosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 91, pp. 2825-2837, McGraw-Hill: New York
18. d'Azzo A, Hoogeveen A, Reuser AJJ, Robinson D, Galjaard H (1982) Molecular defect in combined (-galactosidase and neuraminidase deficiency in man. Proc Natl Acad Sci USA 79: 4535-4539
19. Desnick RJ, loannou YA, Eng CM (1995) (-Galactosidase A Deficiency: Fabry Disease. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 89, pp. 2741-2784, McGraw-Hill: New York
20. Desnick RJ, Wang AM (1995) (-N-acetylgalactosaminidase deficiency: Schindler disease. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 80, pp. 2509-2528 McGraw-Hill: New York
21. Divecha N, Irvine RF (1995) Phospholipid signaling. Cell 80: 269-278
22. Fernandes MJG, Yew S, Leclerc D, Henrissat B, Vorgias CE, Gravel RA, Hechtman P, Kaplan F (1997) Identification of candidate active site residues in lysosomal b-hexosaminidase A J Biol Chem 272: 814-820
23. Fujita N, Suzuki K, Vanier MT, Popko B, Maeda N, Klein A, Henseler M, Sandhoff K, Nakayasu H, Suzuki K (1996) Targeted disruption of the mouse sphingolipid activator protein gene: a complex phenotype, including severe leukocystrophy and wide-spread storage of multiple sphingolipids. Hum Mol Genet 5: 711-725
24. Fürst W, Machleidt W, Sandhoff K (1988) The precursor of sulfatide activator protein is processed to three different proteins. Biol Chem Hoppe-Seyler 369: 317-328
25. Fürst W, Sandhoff K (1992) Activator proteins and topology of lysosomal sphingolipid catabolism. Biochim Biophys Acta 1126: 1-16
26. Fürst W, Schubert J, Machleidt W, Meyer EH, Sandhoff K (1990) The complete amino-acid sequences of human ganglioside GM2 activator protein and cerebroside sulfate activator protein. Eur J Biochem 132: 709-714
27. Futerman AH, Stieger B, Hubbard AL, Pagano RE (1990) Sphingomyelin synthesis in rat liver occurs predominantly at the cis and medial cisternae of the golgi apparatus. J Biol Chem 265: 8650-8657
28. Gahl WA, Schneider JA, Aula PP (1995) Lysosomal transport disorders: cystinosis and sialic acid storage disorders. In: The Metabolic and Molecular Basis of Inherited Disease. Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 126, pp. 3763-3797, McGraw-Hill: New York
29. Gieselmann V (1995) Lysosomal storage diseases. Biochim Biophys Acta 1270: 103-136
30. Gillard BK, Harrell RG, Marcus DM (1996) Pathway of glycosphingolipid biosynthesis in SW13 cells in the presence and absence of vimentin intermediate filaments. Glycobiol 6: 33-42
31. Glombitza GJ, Becker E, Kaiser HW, Sandhoff K (1997) Biosynthesis, processing, and intracellular transport of GM2 activator protein in human epidermal keratinocytes. The lysosomal targeting of the GM2 activator is independent of a mannose-6-phosphate signal. J Biol Chem 272: 5199-5207
32. Graber D, Salvayre R, Levade T (1994) Accurate differentiation of neuronopathic and nonneuronopathic forms of Niemann-Pick disease by evaluation of the effective residual lysosomal sphingomyelinase activity in intact cells. J Neurochem 63: 1060-1068
33. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K, Suzuki K (1995) The GM2 Gangliosidoses. In: The Metabolic and Motecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 92, pp. 2839-2879. McGraw-Hill: New York
34. Griffiths GW, Hoflack B, Simons K, Mellman IS, Kornfeld S (1988) The mannose-6-phosphate receptor and the biogenesis of lysosomes. Cell 52: 329-341
35. Hahn CN, del Pilar M, Schröder M, Vanier MT, Hara Y, Suzuki K, Suzuki K, d'Azzo A (1997) Generalized CNS disease and massive GM1-ganglioside accumulation in mice defective in lysosomal acid beta-galactosidase. Hum Mol Genet 6: 205-211
36. Hakomori S (1981) Glycosphingolipids in cellular interactions, differentiation and oncogenesis. Annu Rev Biochem 50: 733-764
37. Hannun YA (1994) The sphingomyelin cycle and the second messenger function of ceramide. J Biol Chem 269: 3125-3128
38. Harzer K, Paton BC, Poulos A (1989) Sphingolipid activator protein (SAP) deficiency in a 16-week old atypical Gaucher disease patient and his fetal sibling; biochemical signs of combined sphingolipidoses. Eur J Pediatr 149: 31-39
39. Hassler DF, Bell RM (1993) Ceramidases: enzymology and metabolic roles. Adv Lipid Res 26: 49-57
40. Henseler M, Klein A, Reber M, Vanier MT, Landrieu P, Sandhoff K (1996) Analysis of a splice-site mutation in the SAP-precursor gene of a patient with metachromatic leukodystrophy. Am J Hum Genet 58: 65-74
41. Hess B, Saftig P, Hartmann D, Coenen R, Lüllmann-Rauch R, Goebel HH, Evers M, von Figura K, D'Hooge R, Nagels G, De Deyn P, Peters C, Gieselmann V (1996) Phenotype of arylsulfatase A-deficient mice. Relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci USA 93: 14821-14826
42. Hidan K, Kawashima I, Tai T, Inagaki F, Nagai Y, Sanai Y (1994) In vitro synthesis of disialoganglioside (GD1a) from asialo-GM1 using stalyltransferase in rat liver golgi vesicles. Eur J Biochem 221: 603-609
43. Ho MW, O'Brien JS (1971) Gauchers disease: deficiency of 'acid' (-glucosidase and reconstitution of enzyme activity in vitro. Proc Natl Acad Sci USA 68: 2810-2813
44. Holleran WM, Mao-Qiang M, Gao WN, Menon GK, Elias PM, Feingold KR (1991) Sphingolipids are required for mammalian epidermal barrier function. J Clin Invest 88: 1338-1345
45. Holleran WM, Williams ML, Gao WN, Elias PM (1990) Serine-palmitoyl transferase activity in cultured human keratinocytes. J Lipid Res 31: 1655-1661
46. Holmgren J, Lönnroth I, Mansson J-E, Svennerholm L (1975) Interaction of cholera toxin and membrane GM1 ganglioside of small intestine. Proc Natl Acad Sci USA 72: 2520-2524
47. Holtschmidt H, Sandhoff K, Fürst W, Kwon H, Schnabel D, Suzuki K (1991) The organization of the gene for the human cerebroside sulfate activator protein. FEBS Lett 280: 267-270
48. Hurwitz R, Ferlinz K, Sandhoff K (1994) The tricyclic antidepressant desipramine causes proteolytic degradation of lysosomal sphingomyelinase in human fibroblasts. Biol Chem Hoppe-Seyler 375: 447-450
49. Iber H, van Echten G, Klein RA, Sandhoff K (1990) pHdependent changes of ganglioside biosynthesis in neuronal cell culture. Eur J Cell Biol 52: 236-240
50. Ichikawa S, Sakiyama H, Suzuki G, Hidari K, Hirabayashi Y (1996) Expression cloning of a cDNA for human ceramide glucosyltranferase that catalyzes the first glycosylation step of glycosphingolipid synthesis. Proc Natl Acad Sci USA 93: 4638-4643
51. Karlsson KA (1989) Animal glycosphingolipids as membrane attachment sites for bacteria. Annu Rev Biochem 58: 309-350
52. Klein A, Henseler M, Klein C, Suzuki K, Harzer K, Sandhoff K (1994) Sphingolipid activator protein D (SAP-D) stimulates the lysosomal degradation of ceramide in vivo. Biochem Biophys Res Commun 200: 1440-1448
53. Klima H, Klein A, van Echten G, Schwarzmann G, Suzuki K, Sandhoff K (1993) Over-expression of a functionally active human GM2-activator protein in Escherichia coli. Biochem J 292: 571-576
54. Koch J, Gartner S, Li CM, Quintern LE, Bernardo K, Levran O, Schnabel D, Desnick RJ, Schuchman EH, Sandhoff K (1996) Molecular cloning and characterization of a full-length complementary DMA encoding human acid ceramidase. Identification of the first molecular lesion causing Farber disease. J Biol Chem 271: 33110-33115
55. Kolesnick R, Goide DW (1994) The sphingomyelin pathway in tumor necrosis factor and interleukin-1-signaling. Cell 77: 325-328
56. Kolodny EH, Fluharty AL (1995) Metachromatic Leukodystrophy and Multiple Sulfatase Deficiency: Sulfatide Lipidosis. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 88, pp. 2693-2739. McGraw-Hill: New York
57. Kolter T (1997) A chemical concept for the treatment of Tay-Sachs disease. Angew. Chem. Int. Ed. Engl. in press.
58. Kolter T, Sandhoff K (1996) inhibitors of glycosphingolipid biosynthesis. Chem Soc Rev 25: 371-381
59. Kolter T, Sandhoff K (1997) Animal models of GM2-gangliosidoses. J Inher Metab Dis, in press
60. Kornfeld S, Mellman I (1989) The biogenesis of lysosomes. Annu Rev Cell Biol 5: 483-525
61. Kotani Y, Matsuda S, Wen TC, Sakanaka M, Tanaka J, Maeda N, Kondoh K, Ueno S, Sano A. (1996) A hydrophobic peptide comprising 18 amino acid residues of the prosaposin sequence has neurotrophic activity in vitro and in vivo. J Neurochem 66: 2197-2200
62. Kretz KA, Carson GS, Morimoto S, Kishimoto Y, Fluharty AL, O'Brien JS (1990) Characterization of a mutation in a family with saposin B deficiency: a glycosylation site defect. Proc Natl Acad Sci USA 87: 2541-2544
63. Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K (1983) Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity. EMBO J 2: 1201-1205
64. Kytzia HJ, Sandhoff K (1985) Evidence for two different active sites on human hexosaminidase - Interaction of GM2 activator protein with hexosaminidase A. J Biol Chem 260: 7568-7572
65. Lannert H, Bünning C, Jeckel D, Wieland FT (1994) Lactosylceramide is synthesized in the lumen of the Golgi apparatus. FEBS Lett 342: 91-96
66. Ledeen RW, Wu G (1992) Ganglioside function in the neuron. Trends Glycosci. Glycotechnol 4: 174-187
67. Leinekugel P, Michel S, Conzelmann E, Sandhoff K (1992) Quantitative correlation between the residual activity of (-hexosaminidase A and arylsulfatase A and the severity of the resulting lysosomal storage disease Hum Genet 88: 513-523
68. Levade T, Moser HW, Fensom AH, Harzer K, Moser AB, Salvayre R (1994) Neurodegenerative course in ceramidase deficiency (Farber disease) correlates with the residual lysosomal ceramide turnover in cultured living patient cells. J Neurol Sci 134: 108-114
69. Li SC, Sonnmo S, Tettamanti G, Li YT (1988) Characterization of a nonspecific activator protein for the enzymatic hydrolysis of glycolipids. J Biol Chem 263: 6588-6591
70. Liu Y, Hoffmann A, Grinberg A, Westphal H, McDonald MR Miller KM, Crawley JN, Sandhoff K, Suzuki K, Proia RL (1997) Mouse model of GM2 activator deficiency manifests cerebellar ganglioside storage and motor impairment. Proc Natl Acad Sci USA 94: 8138-8143
71. Loftus SK, Morris JA, Carstea ED, Gu JZ, Cummings C, Brown A, Ellison J, Ohno K, Rosenfeld MA, Tagle DA, Pentchev PG, Pavan VJ (1997) Munne model of Niemann-Pick C disease: mutation in a cholesterol homeostasis gene. Science 277: 232-234
72. Lullmann-Rauch R (1974) Lipidosis-like alterations in spinal cord and cerebellar cortex of rats treated with tricyclic antidepressants or neuroleptics. Acta Neuropathol 29: 237-249
73. Luzi P, Rafi MA, Wenger DA (1995) Structure and organization of the human galactocerebrosidase (GALC) gene. Genomics 26: 407-409
74. Maccioni HJR Fritz VR, Maxzud MK, Daniotti JL, Martina JA (1996) Compartimental organization of ganglioside synthesis in the Golgi complex. Biocell 20: 279-286
75. Mandon E, Ehses I, Rother J, van Echten G, Sandhoff K (1992) Subcellular localization and membrane topology of serine palmitoyltransferase, 3-dertydrosphinganine reductase and sphinganine N-acyltransferase in mouse liver. J Biol Chem 267: 11144-11148
76. Markwell MAK, Svennerholm L, Paulson JC (1981) Specific gangliosides function as host cell receptors for Sendai virus. Proc Natl Acad Sci USA 78: 5406-5410
77. Mehl E, Jatzkewitz H (1964) Eine Cerebrosidsulfatase aus Schweineniere. Hoppe-Seyler's Z Physiol Chem 339: 260-276
78. Meier EM, Schwarzmann G, Fürst W, Sandhoff K (1991) The human GM2 activator protein: a substrate specific cofactor of hexosaminidase A. J Biol Chem 266: 1879-1887
79. Mellman I (1996) Endocytosis and molecular sorting. Annu Rev Cell Dev Biol 12: 575-625
80. Merrill Jr AH, Sweeley CC (1996) Sphingolipids: metabolism and ceil signalling. In: Biochemistry of Lipids. Lipoproteins and Membranes, Vance DE, Vance JE (eds.), pp. 309-339, Elsevier, Amsterdam
81. Meyer zu Heringdorf D, van Koppen CJ, Jakobs KH (1997) Molecular diversity of sphingolipid signalling. FEBS Lett 410: 34-38
82. Michel C, van Echten-Deckert G, Rother J, Sandhoff K, Wang Er Merrill, Jr., AH (1997) Characterization of ceramide synthesis - a dihydroceramide desaturase introduces the 4,5-trans-double bond of sphingosine at the level of dihydroceramide. J Biol Chem 272: 22432-22437.
83. Miyataki T, Suzuki K (1972) Globoid cell leukodystrophy: Additional deficiency of psychosme galactosidase. Biochem Biophys Res Commun 48: 539-543
84. Munford RS, Sheppard PO, O'Hara PJ (1995) Saposin-like proteins (SAPLIP) carry out diverse functions on a common backbone structure. J Lipid Res 36: 1653-1663
85. Nagai Y, Iwamori M (1995) Cellular Biology of Gangliosides. In: Biology of the Sialic Acids (Rosenberg A, ed), Plenum Press, New York, 197-241
86. Nakano T, Sandhoff K, Stümper J, Christomanou H, Suzuki K (1989) Structure of full-length cDNA coding for sulfatide activator, a co-b-glucosidase and two other homologous proteins: Two alternate forms of the sulfatide activator. J Biochem 105: 152-154
87. Neufeld EF (1991) Lysosomal storage diseases. Annu Rev Biochem 60: 257-280
88. Neufeld EF, Muenzer J (1995) The mucopolysaccharidoses. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition. Chapter 78, pp. 2465-2494, McGraw-Hill: New York
89. Nilsson O, Svennerholm L (1982) Accumulation of glucosylceramide and glucosylsphingosine (psychosine) in cerebrum and cerebellum in infantile and juvenile Gaucher disease. J Neurochem 39: 709-718
90. O'Brien JS, Carson GS, Seo H-C, Hiraiwa M, Weiler S, Tomich JM, Barranger JA, Kahn M, Azuma N, Kishimoto Y (1995) identification of the neurotrophic sequence of prosaposin. FASEB J 9: 681-685
91. O'Brien JS, Kretz KA, Dewji N, Wenger DA, Esch R Fluharty AL (1988) Coding of two sphingolipid activator proteins (SAP-1 and SAP-2) by same genetic locus. Science 241: 1098-1101
92. Paul P, Kamisaka Y, Marks DL, Pagano RE (1996) Purification and characterization of UDP-glucose:ceramide glucosyltransferase from rat liver Golgi membranes. J Biol Chem 271: 2287-2293
93. Penzien JM, Kappler JM, Herschkowitz N, Schuknecht B, Leinekugel P, Propping P, Tonnessen T, Lou H, Moser H, Ziers S, Conzelmann E, Gieselmann V (1993) Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease Am J Hum Genet 52: 557-564
94. Phaneuf D, Wakamatsu N, Huang JQ, Borowski A, Peterson A, Fortunato SR, Ritter G, Igdoura SA, Morales CR, Benoit G, Akerman BR, Leclerc D, Hanai N, Marth JD, Trasler JM, Gravel RA (1996) Dramatically different phenotypes in mouse models of human Tay-Sachs and Sandhoff disease. Hum Mol Genet 5: 1-14
95. Phillips ML, Nudelman E, Gaeta FCA, Perez M, Singhal AK, Hakomori S, Paulson JC (1990) ELAM 1 mediates cell adhesion by recognition of a carbohydrate ligand, Sialyl-Lex. Science 250: 1130-1132
96. Pisoni RL, Thoene, JG (1991) The transport systems of mammalian lysosomes. Biochim Biophys Acta 1071: 351-373
97. Platt FM, Neises GR, Karlsson GB, Dwek RA, Butters TD (1994) N-butyldeoxynojirimycin inhibits glycohpid biosynthesis but does not affect N-linked oligosaccharide processing. J Biol Chem 269: 27108-27114
98. Platt FM, Neises GR, Reinkensmeier G, Townsend MJ, Perry VH, Proia RL, Winchester B, Dwek RA, Butters TD (1997). Prevention of lysosomal storage in Tay-Sachs mice treated with N-butyldeoxynojirimycin. Science 276: 428-431
99. Platt FM, Reinkensmeier G, Dwek RA, Butters TD (1997) Extensive glycosphingolipid depletion in the liver and lymphoid organs of mice treated with N-butyldeoxynojirimycin. J Biol Chem 272: 19365-19372
100. Quintern LE, Schuchmann EH, Levran O, Suchi M, Ferlinz K, Reinke H, Sandhoff K, Desnick RJ (1989) Isolation of cDNA clones encoding human acid sphingomyelinase: Occurence of alternatively processed transcripts. EMBO J 8: 2469-2473
101. Quintern LE, Weitz G, Nehrkorn H, Tager JM, Schram AW, Sandhoff K (1987) Actd sphingomyelinase from human urine: purification and characterization. Biochim Biophys Acta 922: 323-336
102. Purpura DP, Suzuki K (1976) Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116: 1-21
103. Rafi MA. de Gala G, Zhang X, Wenger DA (1993) Mutational analysis in a patient with a variant form of Gaucher disease caused by SAP-2 deficiency. Somat Cell Mol Genet 19: 1-7
104. Rafi MA, Zhang XL, de Gala G, Wenger DA (1990) Detection of a point mutation in sphingolipid activator protein 1 mRNA in patients with a variant form of metachromatic leukodystrophy. Biochem Biophys Res Commun 166: 1017-1023
105. Renfrew CA, Hubbard AL (1991) Degradation of epidermal growth factor receptor in rat liver. J Biol Chem 266: 21265-21273
106. Robinson MS, Watts C, Zerial M (1996) Membrane dynamics in endocytosis. Cell 84: 13-21
107. Rommerskirch W, von Figura K (1992) Multiple sulfatase deficiency: catalytically inactive sulfatases are expressed from retroviraily introduced cDNAs. Proc Natl Acad Sci USA 89: 2561-2565
108. Rother J, van Echten G, Schwarzmann G, Sandhoff K (1992) Biosynthesis of sphingolipids: dihydroceramide and not sphinganine is desaturated by cultured cells. Biochem Biophys Res Commun 189: 14-20
109. Sakai N, Inui K, Fujii N, Fukushima H, Nishimoto J, Yanagihara I, Isegawa Y, Iwamatsu A, Okada S (1994) Krabbe disease: Isolation and characterization of a full-length cDNA for human galactocerebrosidase. Biochem Biophys Res Commun 198: 485-491
110. Sakai N, Inui K, Tatsumi N, Fukushima H, Nishigaki T, Taniike M, Nishimoto J, Tsukamoto H, Yanagihara I, Ozono K, Okada S (1996.) Molecular cloning and expression of cDNA for murine galactocerebrosidase and mutation analysis of the twitcher mouse, a model of Krabbe's disease. J Neurochem 66: 1118-1124
111. Sandhoff K, Conzelmann E, Neufeld E, Kaback MM, Suzuki K (1989) The GM2 gangliosidoses. in: The Metabolic Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 6th Edition, Chapter 72, pp. 1807-1839, McGraw-Hill: New York
112. Sandhoff K, Harzer K, Fürst W (1995) Sphingolipid Activator Proteins. In: The Metabolic and Molecular Basis of Inherited Disease, Scriver C, Beaudet AL, Sly WS, Valle D (eds.), 7th Edition, Chapter 76, pp. 2427-2441, McGraw Hill: New York
113. Sandhoff K, Kolter T-(1995) Glykolipide der Zelloberflache - Biochemie ihres Abbaus. Naturwissenschaften 82: 403-413
114. Sandhoff K, Kolter T (1996) Topology of glycosphingolipid degradation. Trends Cell Biol 6: 98-103
115. Sango K, McDonald MP, Crawley JN, Mack ML Tifft CJ, Skop E, Starr CM, Hoffmann A, Sandhoff K,: Suzuki K, Proia RL (1996) Mice lacking both subunits of lysosomal (-hexosaminidase display gangliosidosis and mucopolysaccharidosis. Nature Genen 4: 348-352
116. Sango K, Yamanaka S, Hoffmann A, Okuda Y, Grinnberg A, Westphal H, McDonald MP, Crawley JN, Sandhoff K, Suzuki K, Proia RL (1995) Mouse models of Tay-Sachs and Sandhoff diseases differ in neurologic phenotype and ganglioside metabolism. Nature Genet 11: 170-176
117. Santana P, Pena LA, Haimovitz-Friedman A, Martin S, Green D, McLoughlin M, Cordon-Cardo C, Schuchman EH, Fuks Z, Kolesnick R (1996) Acid sphingomyelinase-deficient human lymphoblasts and mice are defective in radiation-induced apoptosis. Cell 86: 189-199
118. Schepers U, Glombitza GJ, Lemm T, Hoffmann A, ChabàsA, Ozand P Sandhoff K (1996) Molecular analysis of a GM2-activator deficiency in two patients with GM2-gangliosidosis AB variant. Am J Hum Genet 59: 1048-1056
119. Schlote W, Harzer K, Christomanou H, Paton BC, Kustermann-Kuhn B, Schmid B, Seeger J, Beudt U, Schuster I, Langenbeck U (1991) Sphingolipid activator protein 1 deficiency in metachromatic leucodystrophy with normal arylsulphatase A activity - A clinical, morphological, biochemical, and immunological study. Eur J Pediatr 150: 584-591
120. Schmidt B, Selmer T, Ingendoh A, von Figura K (1995) A novel amino acid modification in sulfatases that is defective in multiple sulfatase deficiency. Cell 82: 271-278
121. Schnabel D, Schröder M, Fürst W, Klein A, Hurwitz R, Zenk T, Weber J, Harzer K, Paton BC, Poulos A, Suzuki K, Sandhoff K (1992) Simultaneous deficiency of sphingolipid activator proteins 1 and 2 is caused by a mutation in the initiation codon of their common gene. J Biol Chem 267: 3312-3315
122. Schnabel D, Schröder M, Sandhoff K (1991) Mutation in the Sphingolipid activator protein 2 in a patient with a variant of Gaucher disease. FEBS Lett 284: 57-59
123. Schröder M, Schnabel D, Hurwitz R, Young E, Suzuki K, Sandhoff K (1993). Molecular genetics of GM2 gangliosidosis AB variant: a novel mutation and expression in BHK cells. Hum Genet 92: 437-440
124. Schröder M, Schnabel D, Suzuki K, Sandhoff K (1991) A mutation in the gene of a glycolipid-binding protein (GM2 activator) that causes GM2-gangfiosidosis variant AB. FEBS Lett 290: 1-3
125. Schuchman EH, Levran O, Peireira LV, Desnick RJ (1992) Structural organization and complete nucleotide sequence of the gene encoding human acid sphingomyelinase (SMPD1). Genomics 12: 197-205
126. Schulte S, Stoffel W (1993) Ceramide UDPgalactosyltransferase from myelinating rat brain: purification, cloning, and expression. Proc Natl Acad Sci USA 90: 10265-10269
127. Spence MW (1993) Sphingomyelinases. Adv Lipid Res 26: 3-23
128. Spiegel S, Foster D, Kolesnick R (1996) Signal transduction through lipid second messengers. Curr Opin Cell Biol 8: 159-167
129. Stults CLM, Sweeley CC, Macher BA (1989) Glycosphingolipids: structure, biological source, and properties. Methods Enzymol 179: 167-214
130. Suzuki K (1994) Genetic disorders of lipid, glycoprotein, and mucopolysaccharide metabolism. In: Basic Neurochemistry: Molecular, Cellular, and Medical Aspects, Siegel GJ, Agranoff BW, Albers RW, Molinoff PB (eds.), 5th Edition, Chapter 38, pp. 793-812, Raven Press: New York
131. Suzuki K, Chen GC (1968) GM1-gangliosidosis (generalized gangliosidosis). Morphology and chemical pathology. Pathol Europ 3: 389-408
132. Suzuki K, Varaer MT (1991) Biochemical and molecular aspects of late-onset GM2-gangliosidosis: B1 variant as a prototype. Dev Neurosci 13: 288-294
133. Svennerholm L (1963) Chromatographic separation of human brain gangaliosides. J Neurochem 10: 613-623
134. Svennerholm L., Asbury AK, Reisfeld RA., Sandhoff K, Tettamanti G, Toffano G (1994) Proceedings of Nobel Symposium 83. Biological function of gangliosides. Progr Brain Res 101: 1-404
135. Taniike M, Yamanaka S, Proia RL, Langaman C, Bonc-Turentine T, Suzuki K (1995) Neuropathology of mice with targeted disruption of Hexa gene, a model of Tay-Sachs disease. Acta Neuropathol (Berl) 89: 296-304
136. Testi R (1996) Sphingomyelin breakdown and cell fate. Trends Biochem Sci 21: 468-471
137. Toda KK, Kobayashi T, Goto I, Ohno K, Eto Y, Inui K, Okada S (1990) Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy. J Neurochem 55: 1585-1591
138. Tsuji S (1996) Molecular cloning and functional analysis of sialyltransferases. J Biochem 120: 1-13
139. van Deurs B, Holm PK, Kayser L, Sandvig K, Hansen SH (1993) Multivesicular bodies in HEp-2 cells are maturing endosomes. Bur J Cell Biol 61: 208-224
140. van Echten G, Sandhoff K (1989) Modulation of ganglioside biosynthesis in primary cultured neurons. J Neurochem 52: 207-214
141. van Echten G, Sandhoff K (1993) Ganglioside metabolism. J Biol Chem 268: 5341 -5344
142. van Helvoort A, van Meer G (1995) Intracellular lipid heterogeneity caused by topology of synthesis and specificity in transport. Example: sphmgolipids. FEBS Lett 369: 18-21
143. van Veldhoven PP, Mannaerts GP (1993) Sphingosinephosphate lyase. Adv Lipid Res 26: 69-98
144. Verma IM, Somia N (1997) Gene therapy - promises, problems and prospects. Nature 389: 239-242
145. Vielhaber G, Hurwitz R, Sandhoff K (1997) Biosynthesis, processing, and targeting of sphingolipid activator protein (SAP) precursor in cultured human fibroblasts. Mannose 6-phosphate receptor-independent endocytosis of SAP precursor. J Biol Chem 272: 32438-32446
146. von Figura K, Hasilik A (1986) Lysosomal enzymes and their receptors. Annu Rev Biochem 55: 167-193
147. Walz G, Aruffo A, Kolanus W, Bevilacqua M, Seed B (1990) Recognition by ELAM-1 of the sialyl-Lex determinant on myeloid and tumor cells. Science 250: 1132-1135
148. Wertz PW, Miethke MC, Long SA, Strauss JS, Downing DT (1985) The composition of ceramides from human stratum corneum and from comedones. J Invest Dermatol 84: 410-412
149. Wiegandt H (1985) Gangliosides. In: New Comprehensive Biochemistry 10, Neuberger A, van Deenen LLM (eds.), pp. 199-260, Elsevier Science Publishers: Amsterdam
150. Yamanaka S, Johnson MD, Grinberg A, Westphal H, Crawley JN, Taniike M, Suzuki K, Proia RL (1994) Targeted disruption of the Hexa gene results in mice with biochemical and pathologic features of Tay-Sachs disease. Proc Natl Acad Sci USA 91: 9975-9979
151. Yatomi Y, Ruan FQ, Hakomori S, Igarashi S (1995) Sphingosine-1 -phosphate: a platelet-activating sphingolipid released from agonist-stimulated human platelets. Blood 86: 193-202
152. Zhang XL, Rafi MA, De Gala G, Wenger DA (1990) Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency. Proc Natl Acad Sci USA 87: 1426-1430
153. Zhang XL, Rafi MA, De Gala G, Wenger DA (1991) The mechanism for a 33-nucleotide insertion in mRNA causing sphingotipid activator protein (SAP-1)-deficient metachromatic leukodystrophy Hum Genet 87: 211-221
154. Zhou XY, Morreau H, Rottier R, Davis D, Bonten E, Gillemans N, Wenger D, Grosveld FG, Doherty P, Suzuki K, Grosveld GC, d'Azzo A (1995) Mouse model for the lysosomal disorder galactosialidosis and correction of the phenotype with over-expressing erythroid precursor cells. Genes Dev 9: 2623-2634
155. Zumbansen M, Stoffel W (1997) Tumor necrosis factor alpha activates NF-kappa -B in acid sphingomyelinase-deficient mouse embryonic fibroblasts. J Biol Chem 272: 10904-10909