Glucosylceramide transfer from lysosomes - The missing link in molecular pathology of glucosylceramidase deficiency: A hypothesis based on existing data

Journal of Inherited Metabolic Disease

Volumn 29, Issue 6, 2006, Pages 707-715

  Elleder, M ^a  

^a Charles University in Prague and General University Hospital in Prague   (Czech Republic)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDE; SPHINGOSINE DERIVATIVE;

ARTICLE; CELL COMPARTMENTALIZATION; CELL DEATH; CELL FUNCTION; CELL TYPE; CLINICAL FEATURE; CYTOLOGY; ENZYME REPLACEMENT; GAUCHER DISEASE; GENETIC ANALYSIS; HUMAN; HYPOTHESIS; INTRACELLULAR TRANSPORT; LYSOSOME; MACROPHAGE; MOLECULAR MECHANICS; PATHOLOGY;

ANIMALS; BIOLOGICAL TRANSPORT; GLUCOSYLCERAMIDASE; GLUCOSYLCERAMIDES; HUMANS; LYSOSOMES; MACROPHAGES; MODELS, BIOLOGICAL;

EID: 33751040151     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-006-0411-z     Document Type: Article

References (119)

1. Adachi M, Volk BW (1977) Gaucher disease in mice induced by conduritol-B-epoxide: Morphologic features. Arch Pathol Lab Med 101: 255-259.
2. Adachi M, Wallace BJ, Schneck L, et al (1967) Fine structure of central nervous system in early infantile Gaucher's disease. Arch Pathol 83: 513-526.
3. Aghion H (1934) La maladie de Gaucher dans l'enfance (Thesis, Paris).
4. 3 H]ceramide by human skin fibroblasts from normal and glucosylceramidotic subjects. J Biol Chem 250: 3966-3971.
5. Beighton P, Goldblatt J, Sacks S (1982) Bone involvement in Gaucher disease. In: Desnick R, Gatt S, Grabowski G, eds. Gaucher Disease: A Century of Delineation and Research, Proceedings of the First International Symposium on Gaucher Disease, New York, Alan R. Liss, 107-129.
6. Beutler E, Grabowski G (2001) Gaucher disease. In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3635-3668.
7. Beutler E, West C, Torbett BE, et al (2002) A chimeric mouse model of Gaucher disease. Mol Med 8: 247-250.
8. Bieberich E (2004) Integration of glycosphingolipid metabolism and cell-fate decisions in cancer and stem cells: Review and hypothesis. Glycoconj J 21: 315-327.
9. Bodamer OA, Church HJ, Cooper A, et al (2002) Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S) Am J Med Genet 109: 328-331.
10. Bodennec J, Pelled D, Riebeling C, et al (2002) Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP: Phosphocholine cytidylyltransferase by glucosylceramide. FASEB J 16: 1814-1816.
11. Boot RG, Verhoek M, Donker-Koopman WE, et al (2006) Identification and Characterization of the Non-lysosomal Glucosylceramidase. Cambridge, UK: European Working Group on Gaucher Disease.
12. Boven LA, van Meurs M, Boot RG, et al (2004) Gaucher cells demonstrate a distinct macrophage phenotype and resemble alternatively activated macrophages. Am J Clin Pathol 122: 359-369.
13. Brady R, King F (1973) Gaucher's disease. In: Hers H, Hoof Fv, eds. Lysosomes and Storage Diseases. New York, London: Academic Press; 381-394.
14. Casal JA, Lacerda L, Perez LF, et al (2002) Relationships between serum markers of monocyte/macrophage activation in type 1 Gaucher's disease. Clin Chem Lab Med 40: 52-55.
15. Cervos-Navarro J, Zimmer C (1990) Light microscopic and ultrastructural study on CNS lesions in infantile Gaucher's disease. Clin Neuropathol 9: 310-313.
16. Conradi NG, Kalimo H, Sourander P (1988) Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease. Acta Neuropathol (Berl) 75: 385-390.
17. Conradi N, Kyllerman M, Mansson JE, et al (1991) Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: Neuropathological and neurochemical findings. Acta Neuropathol (Berl) 82: 152-157.
18. Cox TM (2001) Gaucher disease: Understanding the molecular pathogenesis of sphingolipidoses. J Inherit Metab Dis 24 (Supplement 2): 106-121; discussion 187-108.
19. Cox TM (2005) Substrate reduction therapy for lysosomal storage diseases. Acta Paediatr Suppl 94: 69-75; discussion 57.
20. Cox TM, Schofield JP (1997) Gaucher's disease: Clinical features and natural history. Baillières Clin Haematol 10: 657-689.
21. Datta SC, Radin NS (1988) Stimulation of liver growth and DNA synthesis by glucosylceramide. Lipids 23: 508-510.
22. Deegan PB, Moran MT, McFarlane I, et al (2005) Clinical evaluation of chemokine and enzymatic biomarkers of Gaucher disease. Blood Cells Mol Dis 35: 259-267.
23. Desnick R, Gatt S, Grabowski G (1982) Gaucher Disease: A Century of Delineation and Research, Proceedings of the First International Symposium on Gaucher Disease. New York, Alan R. Liss.
24. Ebato H, Abe T, Yamakawa T, et al (1980) Characterization of the cytoplasmic inclusion bodies of the spleens from patients with adult form Gaucher's disease. J Biochem (Tokyo) 88: 1765-1772.
25. Eblan MJ, Goker-Alpan O, Sidransky E (2005) Perinatal lethal Gaucher disease: A distinct phenotype along the neuronopathic continuum. Fetal Pediatr Pathol 24: 205-222.
26. Edwards WD, Hurdey HP, 3rd, Partin JR (1983) Cardiac involvement by Gaucher's disease documented by right ventricular endomyocardial biopsy. Am J Cardiol 52: 654.
27. Elleder M (1989) Niemann-Pick disease. Pathol Res Pract 185: 293-328.
28. Elleder M, Jirasek A (1981) Histochemical and ultrastructural study of Gaucher cells. Acta Neuropathol Suppl (Berl) 7: 208-210.
29. Elleder M, Smid F (1977) Lysosomal non-lipid component of Gaucher's cells. Virchows Arch B Cell Pathol 26: 133-138.
30. Elleder M, Dobrovolny R, Keslova J, et al (2005a) ERT in Fabry and Gaucher Diseases. Reality at the Cellular Level, 15th ESGLD Workshop, Oslo, Norway, ESGLD.
31. Elleder M, Jerabkova M, Befekadu A, et al (2005b) Prosaposin deficiency - A rarely diagnosed, rapidly progressing, neonatal neurovisceral lipid storage disease. Report of a further patient. Neuropediatrics 36: 171-180.
32. Fiore CE, Barone R, Pennisi P, et al (2002) Bone ultrasonometry, bone density, and turnover markers in type 1 Gaucher disease. J Bone Miner Metab 20: 34-38.
33. Fox H, McCarthy P, Andre-Schwartz J, et al (1984) Gaucher's disease and chronic lymphocytic leukemia. Possible pathogenetic link between Gaucher's disease and B-cell proliferations? Cancer 54: 312-314.
34. George R, McMahon J, Lytle B, et al (2001) Severe valvular and aortic arch calcification in a patient with Gaucher's disease homozygous for the D409H mutation. Clin Genet 59: 360-363.
35. Ginzburg L, Kacher Y, Futerman AH (2004) The pathogenesis of glycosphingolipid storage disorders. Semin Cell Dev Biol 15: 417-431.
36. Gonzalez Rodriguez MJ, Pintado Conde H, Lopez Nieto C, Capdevita Puerta A, Torres Carrete JP (1992) Retinal involvement in Gaucher's disease [In French]. J Fr Ophthalmol 15: 185-190.
37. Grafe M, Thomas C, Schneider J, et al (1988) Infantile Gaucher's disease: A case with neuronal storage. Ann Neurol 23: 300-303.
38. Hara A, Radin NS (1979) Enzymic effects of beta-glucosidase destruction in mice. Changes in glucuronidase levels. Biochim Biophys Acta 582: 423-433.
39. Harzer K, Paton BC, Poulos A, et al (1989) Sphingolipid activator protein 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.
40. Hernandez F, Bueno M (1973) Infantile neurological Gaucher's disease in three siblings. An ultrastructural study. Virchows Arch A Pathol Pathol Anat 360: 27-32.
41. Hollak CE, van Weely S, van Oers MH, et al (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease. J Clin Invest 93: 1288-1292.
42. Holleran WM, Ginns EI, Menon GK, et al (1994) Consequences of beta-glucocerebrosidase deficiency in epidermis. Ultrastructure and permeability barrier alterations in Gaucher disease. J Clin Invest 93: 1756-1764.
43. Holthuis JC, Pomorski T, Raggers RJ, et al (2001) The organizing potential of sphingolipids in intracellular membrane transport. Physiol Rev 81: 1689-1723.
44. Hulkova H, Cervenkova M, Ledvinova J, et al (2001) A novel mutation in the coding region of the prosaposin gene leads to a complete deficiency of prosaposin and saposins, and is associated with a complex sphingolipidosis dominated by lactosylceramide accumulation. Hum Mol Genet 10: 927-940.
45. Inui K, Yanagihara K, Otani K, et al (2001) A new variant neuropathic type of Gaucher's disease characterized by hydrocephalus, corneal opacities, deformed toes, and fibrous thickening of spleen and liver capsules. J Pediatr 138: 137-139.
46. Ishibashi M, Arikawa J, Okamoto R, et al (2003) Abnormal expression of the novel epidermal enzyme, glucosylceramide deacylase, and the accumulation of its enzymatic reaction product, glucosylsphingosine, in the skin of patients with atopic dermatitis. Lab Invest 83: 397-408.
47. Jmoudiak M, Futerman AH (2005) Gaucher disease: Pathological mechanisms and modern management. Br J Haematol 129: 178-188.
48. Korkotian E, Schwarz A, Pelled D, et al (1999) Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons. J Biol Chem 274: 21673-21678.
49. Lee RE (1982) The Pathology of Gaucher Disease. In: Desnick R, Gatt S, Grabowski GA, eds. Gaucher Disease: A Century of Delineation and Research. New York: Alan R Liss, 177-217.
50. Lipson AH, Rogers M, Berry A (1991) Collodion babies with Gaucher's disease - a further case. Arch Dis Child 66: 667.
51. Lloyd OC, Norman RM, Urich H (1956) The neuropathology of infantile Gaucher's disease. J Pathol Bacteriol 72: 121-131.
52. Lloyd-Evans E, Pelled D, Riebeling C, et al (2003) Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms. Biochem J 375: 561-565.
53. Marsh NL, Elias PM, Holleran WM (1995) Glucosylceramides stimulate murine epidermal hyperproliferation. J Clin Invest 95: 2903-2909.
54. Metz RJ, Radin NS (1980) Glucosylceramide uptake protein from spleen cytosol. J Biol Chem 255: 4463-4467.
55. Mignot C, Gelot A, Bessieres B, et al (2003) Perinatal-lethal Gaucher disease. Am J Med Genet A 120: 338-344.
56. Mistry PK, Sirrs S, Chan A, et al (2002) Pulmonary hypertension in type 1 Gaucher's disease: Genetic and epigenetic determinants of phenotype and response to therapy. Mol Genet Metab 77: 91-98.
57. Mitsuo K, Kobayashi T, Shinnoh N, et al (1989) Biosynthesis of galactosylsphingosine (psychosine) in the twitcher mouse. Neurochem Res 14: 899-903.
58. Mizukami H, Mi Y, Wada R, et al (2002) Systemic inflammation in glucocerebrosidase-deficient mice with minimal glucosylceramide storage. J Clin Invest 109: 1215-1221.
59. Moran MT, Schofield JP, Hayman AR, et al (2000) Pathologic gene expression in Gaucher disease: Up-regulation of cysteine proteinases including osteoclastic cathepsin K. Blood 96: 1969-1978.
60. Morell P, Radin NS (1969) Synthesis of cerebroside by brain from uridine diphosphate galactose and ceramide containing hydroxy fatty acid. Biochemistry 8: 506-512.
61. Naito M, Takahashi K, Hojo H (1988) An ultrastructural and experimental study on the development of tubular structures in the lysosomes of Gaucher cells. Lab Invest 58: 590-598.
62. Nilsson O, Mansson JE, Hakansson G, et al (1982) The occurrence of psychosine and other glycolipids in spleen and liver from the three major types of Gaucher's disease. Biochim Biophys Acta 712: 453-463.
63. Orvisky E, Sidransky E, McKinney CE, et al (2000) Glucosylsphingosine accumulation in mice and patients with type 2 Gaucher disease begins early in gestation. Pediatr Res 48: 233-237.
64. Orvisky E, Park JK, LaMarca ME, et al (2002) Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: Correlation with phenotype and genotype. Mol Genet Metab 76: 262-270.
65. Overkleeft HS, Renkema GH, Neele J, et al (1998) Generation of specific deoxynojirimycin-type inhibitors of the non-lysosomal glucosylceramidase. J Biol Chem 273: 26522-26527.
66. Parkin JL, Brunning RD (1982) Pathology of the Gaucher cell. In: Desnick R, Gatt S, Grabowski GA, eds. Gaucher Disease: A Century of Delineation and Research. New York, Alan R Liss, 151-176.
67. Pelled D, Trajkovic-Bodennec S, Lloyd-Evans E, et al (2005) Enhanced calcium release in the acute neuronopathic form of Gaucher disease. Neurobiol Dis 18: 83-88.
68. Platzker Y, Fisman EZ, Pines A, et al (1985) Unusual echocardiographic pattern in Gaucher's disease. Cardiology 72: 144-146.
69. Prence EM, Chaturvedi P, Newburg DS (1996) In vitro accumulation of glucocerebroside in neuroblastoma cells: A model for study of Gaucher disease pathobiology. J Neurosci Res 43: 365-371.
70. Rodriguez-Lafrasse C, Vanier MT (1999) Sphingosylphosphorylcholine in Niemann-Pick disease brain: Accumulation in type A but not in type B. Neurochem Res 24: 199-205.
71. Ron I, Horowitz M (2005) ER retention and degradation as the molecular basis underlying Gaucher disease heterogeneity. Hum Mol Genet 14: 2387-2398.
72. Rosenthal DI, Doppelt SH, Mankin HJ, et al (1995) Enzyme replacement therapy for Gaucher disease: Skeletal responses to macrophage-targeted glucocerebrosidase. Pediatrics 96: 629-637.
73. Rosenthal G, Wollstein G, Klemperer I, et al (2000) Macular changes in type I Gaucher's disease. Ophthalmic Surg Lasers 31: 331-333.
74. Roth P, Sklower Brooks S, Potaznik D, et al (2005) Neonatal Gaucher disease presenting as persistent thrombocytopenia. J Perinatol 25: 356-358.
75. Rudzki Z, Okon K, Machaczka M, et al (2003) Enzyme replacement therapy reduces Gaucher cell burden but may accelerate osteopenia in patients with type I disease - a histological study. Eur J Haematol 70: 273-281.
76. Saito M, Rosenberg A (1985) The fate of glucosylceramide (glucocerebroside) in genetically impaired (lysosomal beta-glucosidase deficient) Gaucher disease diploid human fibroblasts. J Biol Chem 260: 2295-2300.
77. Sato Y, Beutler E (1993) Binding, internalization, and degradation of mannose-terminated glucocerebrosidase by macrophages. J Clin Invest 91: 1909-1917.
78. Schmitz M, Alfalah M, Aerts JM, et al (2005) Impaired trafficking of mutants of lysosomal glucocerebrosidase in Gaucher's disease. Int J Biochem Cell Biol 37: 2310-2320.
79. Schueler UH, Kolter T, Kaneski CR, et al (2003) Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: A model system for assessing neuronal damage in Gaucher disease type 2 and 3. Neurobiol Dis 14: 595-601.
80. Schuchman E, Desnick R (2001) Niemann-Pick disease types A and B: Acid sphingomyelinase deficiencies. In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3589-3610.
81. Scott C, Ioannou YA (2004) The NPC1 protein: Structure implies function. Biochim Biophys Acta 1685: 8-13.
82. Shayman JA, Deshmukh GD, Mahdiyoun S, et al (1991) Modulation of renal epithelial cell growth by glucosylceramide. Association with protein kinase C, sphingosine, and diacylglycerol. J Biol Chem 266: 22968-22974.
83. Shebani E, Johannesson M, Stromberg B, et al (2003) A patient with type 2 Gaucher's disease with respiratory disease. J Pediatr 142: 209-210.
84. Sherer DM, Metlay LA, Sinkin RA, et al (1993) Congenital ichthyosis with restrictive dermopathy and Gaucher disease: A new syndrome with associated prenatal diagnostic and pathology findings. Obstet Gynecol 81: 842-844.
85. Sidransky E (2004) Gaucher disease: Complexity in a "simple" disorder. Mol Genet Metab 83: 6-15.
86. Sidransky E, Sherer DM, Ginns EI (1992) Gaucher disease in the neonate: a distinct Gaucher phenotype is analogous to a mouse model created by targeted disruption of the glucocerebrosidase gene. Pediatr Res 32: 494-498.
87. Smith RL, Hutchins GM, Sack GH Jr., et al (1978) Unusual cardiac, renal and pulmonary involvement in Gaucher's disease. Intersitial glucocerebroside accumulation, pulmonary hypertension and fatal bone marrow embolization. Am J Med 65: 352-360.
88. Stone DL, Tayebi N, Coble C, et al (2000) Cardiovascular fibrosis, hydrocephalus, ophthalmoplegia, and visceral involvement in an American child with Gaucher disease. J Med Genet 37: E40.
89. Stowens DW, Teitelbaum SL, Kahn AJ, et al (1985) Skeletal complications of Gaucher disease. Medicine (Baltimore) 64: 310-322.
90. Suzuki K (1982) Glucosylceramide and related compounds in normal tissues and in Gaucher disease. In: Desnick R, Gatt S, Grabowski G, eds. Gaucher Disease: A Century of Delineation and Research, Proceedings of the First International Symposium on Gaucher Disease. New York: Alan R Liss, 219-230.
91. Tayebi N, Walker J, Stubblefield B, et al (2003) Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79: 104-109.
92. Tessitore A, del P Martin M, Sano R, et al (2004) GM1-ganglioside-mediated activation of the unfolded protein response causes neuronal death in a neurodegenerative gangliosidosis. Mol Cell 15: 753-766.
93. Theise ND, Ursell PC (1990) Pulmonary hypertension and Gaucher's disease: Logical association or mere coincidence? Am J Pediatr Hematol Oncol 12: 74-76.
94. Torloni MR, Franco K, Sass N (2002) Gaucher's disease with myocardial involvement in pregnancy. Sao Paulo Med J 120: 90-92.
95. Trinchera M, Fabbri M, Ghidoni R (1991) Topography of glycosyltransferases involved in the initial glycosylations of gangliosides. J Biol Chem 266: 20907-20912.
96. Tybulewicz VL, Tremblay ML, LaMarca ME, et al (1992) Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene. Nature 357: 407-410.
97. Uchida Y, Murata S, Schmuth M, et al (2002) Glucosylceramide synthesis and synthase expression protect against ceramide-induced stress. J Lipid Res 43: 1293-1302.
98. Ueno H, Ueno S, Matsuo N, Kajitani T, Fujiwara J (1980) Electron microscopic study of Gaucher cells in the eye. Jpn J Ophthalmol 24: 75-81.
99. Uyama E, Terasaki T, Watanabe S, et al (1992) Type 3 GM1 gangliosidosis: characteristic MRI findings correlated with dystonia. Acta Neurol Scand 86: 609-615.
100. van Meer G, Wolthoorn J, Degroote S (2003) The fate and function of glycosphingolipid glucosylceramide. Philos Trans R Soc Lond B Biol Sci 358: 869-873.
101. van Weely S, Brandsma M, Strijland A, et al (1993) Demonstration of the existence of a second, non-lysosomal glucocerebrosidase that is not deficient in Gaucher disease. Biochim Biophys Acta 1181: 55-62.
102. Vanier MT, Millat G (2003) Niemann-Pick disease type C. Clin Genet 64: 269-281.
103. Wang TJ, Chen MS, Shih YF, et al (2005) Fundus abnormalities in a patient with type I Gaucher's disease with 12-year follow-up. Am J Ophthalmol 139: 359-362.
104. Weinreb NJ, Charrow J, Andersson HC, et al (2002) Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry. Am J Med 113: 112-119.
105. Wenger DA, Roth S, Kudoh T, et al (1983) Biochemical studies in a patient with subacute neuropathic Gaucher disease without visceral glucosylceramide storage. Pediatr Res 17: 344-348.
106. Wenger D, Suzuki K, Suzuki Y, et al (2001) Galactosylceramide lipidosis: globoid cell leukodystrophy (Krabbe disease). In: Scriver CR, Beaudet al, Sly WS, Valle D, eds; Childs B, Kinzler KW, Vogelstein B, assoc, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. New York: McGraw-Hill, 3669-3694.
107. Wenstrup RJ, Roca-Espiau M, Weinreb NJ, et al (2002) Skeletal aspects of Gaucher disease: A review. Br J Radiol 75 (Supplement 1): A2-12.
108. Willemsen R, Tybulewicz V, Sidransky E, et al (1995) A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse. Mol Chem Neuropathol 24: 179-192.
109. Williams PL (1995) Nervous system. Accessory visual apparatus. In: Williams PL, ed. Gray's Anatomy. The Anatomical Basis of Medicine and Surgery. London: Churchill Livingstone, 1338.
110. Wilson ER, Barton NW, Barranger JA (1985) Vascular involvement in type 3 neuronopathic Gaucher's disease. Arch Pathol Lab Med 109: 82-84.
111. Wong K, Sidransky E, Verma A, et al (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 82: 192-207.
112. Wong M, Brown RE, Barenholz Y, et al (1984) Glycolipid transfer protein from bovine brain. Biochemistry 23: 6498-6505.
113. Xu YH, Quinn B, Witte D, et al (2003) Viable mouse models of acid beta-glucosidase deficiency: The defect in Gaucher disease. Am J Pathol 163: 2093-2101.
114. Yamada K, Sasaki T (1982) A rat brain cytosol protein which accelerates the translocation of galactosylceramide, lactosylceramide and glucosylceramide between membranes. Biochim Biophys Acta 687: 195-203.
115. Yamadori I, Morikawa T, Kobayashi S, et al (1990) Gaucher's disease type I. Report of a case with prominent deposition of ceroid in splenic endothelial cells and intestinal smooth muscle fibers. Acta Pathol Jpn 40: 425-430.
116. Yamaguchi Y, Sasagasako N, Goto I, et al (1994) The synthetic pathway for glucosylsphingosine in cultured fibroblasts. J Biochem (Tokyo) 116: 704-710.
117. Zhao H, Grabowski GA (2002) Gaucher disease: Perspectives on a prototype lysosomal disease. Cell Mol Life Sci 59: 694-707.
118. Zhu Y, Li X, Schuchman E, et al (2004) Dexamethasone-mediated up-regulation of the mannose receptor improves the delivery of recombinant glucocerebrosidase to Gaucher macrophages. J Pharmacol Exp Ther 308: 705-711.
119. Zimran A, Liphshitz I, Barchana M, et al (2005) Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis 34: 197-200.