Cellular pathology of lysosomal storage disorders

Brain Pathology

Volumn 8, Issue 1, 1998, Pages 175-193

  Walkley, Steven U ^a,b  

^a Department of Neuroscience

^b ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ANTIBODY; BETA N ACETYLHEXOSAMINIDASE; CALCIUM BINDING PROTEIN; DYNEIN ADENOSINE TRIPHOSPHATASE; ENZYME; EPIDERMAL GROWTH FACTOR RECEPTOR; GANGLIOSIDE GM2; GANGLIOSIDE GM3; GLYCOSIDASE; HYDROLASE; KINESIN; MEMBRANE RECEPTOR; PHOSPHATASE; PHOSPHOLIPASE; PROTEINASE; SULFATASE; TOLONIUM CHLORIDE; TRIACYLGLYCEROL LIPASE;

BRAIN; CONFERENCE PAPER; ELECTRON MICROSCOPY; ENZYME ACTIVITY; GENE; HUMAN; IMMUNOCYTOCHEMISTRY; LYSOSOME; LYSOSOME STORAGE DISEASE; NERVE CELL; NERVE CELL NECROSIS; NONHUMAN; SPHEROID CELL;

EID: 0031973893     PISSN: 10156305     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1750-3639.1998.tb00144.x     Document Type: Conference Paper

References (98)

1. Alberts B, Bray D, Lewis J, Raff M, Roberts K, Watson J (1994) The Molecular Biology of the Cell. 3rd Edition. Garland: New York
2. Beal MF (1992) Does impairment of energy metabolism result in excitotoxic neuronal death in neurodegenerative disease? Ann Neural 31: 119-130
3. Bevan AR Drake PG, Bergeron JJM, Posner BI (1996) Intracellular signal transduction: The role of endosomes. TBW 7: 13-21
4. Bielschowsky M (1932) Histopathology of nerve cells. In: Cytology and Cellular Pathology of the Nervous System, Penfield W (ed.), Paul B, Hoeber; New York
5. Bremer E (1994) Glycosphingolipids as effectors of growth and differentiation. Curr Top Membranes: Cell Lipids 40: 387-411
6. Broadwell RD, Oliver C, Brightman MW (1980) Neuronal transport of acid hydrolases and peroxidase within the lysosomal system of organelles: Involvement of agranular reticulum-like cisterns. J Comp Neurol 190: 519-532
7. Brown D, Thrall MA, Walkley SU, Wurzelmann S, Wenger DA, Allison RW, Just CA (1996) Metabolic abnormalities in feline Niemann-Pick disease type C heterozygotes. J Inher Metab Dis 19: 319-330
8. Chakraborty M, Anderson GM, Chakraborty A, Chatterjee D (1993) Accumulation of high level of pp60 c-srcN is an early event during GM3 -antibody mediated differentiation of neuro-2a neuroblastoma cells. Brain Res 625: 197-202
9. Conzelmann E, Sandhoff K (1983/84) Partial enzyme deficiencies: residual activities and development of neurological disorders. Dev Neurosci 6: 58-71
10. de Duve C (1964) From cytases to lysosomes. Fed Proc 23: 1045-1049
11. Ezaki J, Wolfe LS, Ishido K, Kominami E (1995) Abnormal degradative pathway of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid lipofuscinosis (Batten disease). Am J Med Genet 57: 254-259
12. Ezaki JR, Wolfe LS, Kominami E (1996) Specific delay in the degradation of mitochondrial ATP synthase subunit c in late infantile neuronal ceroid-lipofuscinosis is derived from cellular proteolytic dysfunction rather than structural alteration of subunit c. J Neurochem 67: 1677-1687
13. Ferrari G, Anderson BL, Stephens RM, Kaplan DR, Greene LA (1995) Prevention of apoptotic neuronal death by GM1 ganglioside. J Biol Chem 270: 3074-3080
14. Garrod A (1928) The lessons of rare maladies. Lancet 1: 1055-1059
15. Garrod AE (1909) Inborn Errors of Metabolism. Oxford University Press: Oxford
16. Gatzinsky KP, Berthold C-H (1990) Lysosomal activity at nodes of Ranvier during retrograde axonal transport of horseradish peroxidase in alpha-motor neurons of the cat. J Neurocytol 20: 989-1002
17. Gatzinsky KP, Berthold C-H, Corneliuson O (1988) Acid phosphatase activity at nodes of Ranvier in alpha-motor and dorsal root ganglion neurons of the cat. J Neurocytol 17: 531-544
18. Goodman LA, Livingston PO, Walkley SU (1991) Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in α-mannosidosis. Proc Natl Acad Sci USA 88: 11330-11334
19. Goodman LA, Walkley SU (1996) GM2 ganglioside is associated with cortical neurons undergoing active dendritogenesis during normal brain development. Dev Brain Res 93: 162-171
20. Gravel RA, Clarke JTR, Kaback MM, Mahuran D, Sandhoff K and Suzuki K (1995) The GM2 gangliosides. In: The Metabolic and Molecular Bases of Inherited Disease, Scriver CR, Beaudet AL, Sly WS, Valle D (eds.), Chapter 92, pp. 2839-2879, McGraw-Hill: New York
21. Griffiths G, Gruenberg J (1991) The arguments for preexisting early and late endosomes. Trends Cell Biol 1: 5-9
22. Hakomori S (1995) Role of gangliosides in transmembrane signaling and cell recognition. In: Biology of the Sialic Acids, Rosenberg A (ed.), pp. 243-259. Plenum Press Publishers: New York
23. Hers HG (1965) Progress in gastroenterology: Inborn lysosomal diseases. Gastroenterology 48: 625-633
24. Hers HG and Van Hoof F (1973) Lysosomes and Storage Diseases. Academic Press: New York
25. Hirschberg, K Zisling R, van Echten-Deckert, G. Futerman AH (1996) Ganglioside synthesis during the development of neuronal polarity. J Biol Chem 271: 14876-14882
26. Hoekstra D, Kok JW (1992) Trafficking of glycosphin-golipids in eukaryotic cells; sorting and recycling of lipids. Biochim Biophys Acta 1113: 277-294
27. Hofmann SL, Lee LA, Lu J-Y Verkruyse LA (1997) Palmitoyl-protein thioesterase and the molecular pathogenesis of infantile neuronal ceroid lipofuscinosis. Neuropediatrics 28: 27-30
28. Hollenbeck PJ (1993) Products of endocytosis and autophagy are retrieved from axons by regulated retrograde organelle transport. J Cell Biol 121: 305-315
29. Holtzman E. (1989) Lysosomes. Plenum Press: New York
30. Holtzman E, Novikoff AB (1965) Lysosomes in the rat sciatic nerve following crush. J Cell Biol 27: 651-668
31. Horowski R, Wachtel H, Turski L, Löschmann P-A (1994) Glutamate excitotoxicity as a possible pathogenetic mechanism in chronic neurodegeneration. In: Neurodegenerative Diseases, Calne DB (ed.), Chapter 11, pp. 163-175, WB Saunders: Philadelphia
32. Houser CR, Vaughn JE, Hendry SHC, Jones EG, Peters A (1984) GABA neurons in the cerebral cortex. In: Cerebral Cortex: Functional Properties of Cortical Cells, Jones EG, Peter A (eds), Volume 2, pp. 63-89. Plenum Press: New York
33. Karabelas AB , Walkley SU (1985) Altered patterns of evoked synaptic activity in cortical pyramidal neurons in feline ganglioside storage disease. Brain Res 339: 329-336
34. Kornfeld S, Mellman I (1989) The biogenesis of lysosomes. Annu Rev Cell Biol 5: 483-526
35. Lake B (1997) Lysosomal and peroxisomal disorders. Greenfieid's Neuropathology. Graham Dl, Lantos PL (eds.) Volume 1, Chapter 11, pp. 657-753, Arnold: London
36. Ledeen RW (1985) Biology of gangliosides: Neuritogenic and neuronotrophic properties. In: Neurobiology of Gangliosides,Gorio A, Haber B (eds.), pp. 147-159, Alan R. Liss. Inc. Publisher: New York
37. Lin SXH, Collins CA (1992) Immunolocalization of cytoplasmic dynein to lysosomes in cultured cells. J Cell Sci 101: 125-137
38. March PA, Thrall MA, Wurzelmann S, Brown D, Walkley SU (1997) Dendritic and axonal abnormalities in feline Niemann-Pick disease type C. Acta Neuropathol (Berl) 94: 164-172
39. March PA, Walkley SU, Wurzelmann S (1995) Morphological alterations in neocortical and cerebellar GABAergic neurons in canine Batten's disease. Am J Med Genet 57: 204-212
40. Murphy RF (1991) Maturation models for endosome and lysosome biogenesis. Trends Cell Biol 1: 77-82
41. Mutoh T, Tokuda A, Miyadai T, Hamaguchi M, Fujiki N (1995) Ganglioside GM1 binds to the TRK protein and regulates receptor function. Proc Natl Acad Sci USA 92: 5087-5091
42. Neufeld E (1991) Lysosomal storage diseases. Annu Rev Biochem 60: 257-280
43. Nixon RA, Cataldo AM (1995) The endosomal-lysosomal system of neurons: new roles. Trends Neurosci 18: 489-496
44. Noda Y, Nakata T, Hirokawa N (1993) Localization of dynamin: Widespread distribution in mature neurons and association with membranous organelles. Neuroscience 55: 113-127
45. Novelli A, Reilly JA, Lysko PG, Henneberry, RC (1988) Glutamate becomes neurotoxic via the N-methyl-D-aspartate receptor when intracellular energy levels are reduced. Brain Res 451: 205-212
46. Novikoff AB (1973) Lysosomes : A personal account. In: Lysosomes and Storage Diseases, Hers HG, van Hoof F (eds.), Chapter 1, pp. 2-41, Academic Press: New York
47. Overly CC, Lee K, Berthiaume E, Hollenbeck PJ (1995) Quantitative measurement of intraorganelle pH in the endosomal-lysosomal pathway in neurons by using ratiometric imaging with pyranine. Proc Natl Acad Sci USA 92: 3156-3160
48. Palmer DN, Fearnley IM, Walker JE, Hall NA, Lake BD, Wolfe LS, Haltis M, Martinus RD, Jolly RD (1992) Mitochondrial ATP synthase subunit c storage in the ceroid lipofuscinoses (Batten disease). Am J Med Genet 42: 561-567
49. Parton RG, Dotti CG (1993) Cell biology of neuronal endocytosis. J Neurosci Res 36: 1-9
50. Parton RG, Simons K, Dotti CG (1992) Axonal and dendritic endocytic pathways in cultured neurons. J Cell Biol 119: 123-137
51. Pentchev PG, Comly ME, Kruth HS, Vanier MT, Wenger DA, Patel S, Brady RO (1985) A defect in cholesterol esterification in Niemann-Pick disease (type C) patients. Proc Natl Acad Sci USA 82: 8247-8251
52. Purpura DP, Suzuki K (1976) Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116: 1-21
53. Rabin SJ, Mocchetti I (1995) GM1 ganglioside activates the high-affinity nerve growth factor receptor TRKA. J Neurochem 65: 347-354
54. Rider JA, Dawson G, Siakotos AN (1992) Perspective of biochemical research in the neuronal ceroid-lipofuscinosis. Am J Med Genet 42: 519-524
55. Sachs B (1887) On arrested cerebral development, with special reference to its cortical pathology. J Nervous Ment Dis 14: 541-553
56. Sachs B (1903) On amaurotic family idiocy. A disease chiefly of the gray matter of the central nervous system. J Nervous Ment Dis 30: 1-13
57. Sachs B, Strauss I (1910) The cell changes in amaurotic family idiocy. J Exp Med 12: 685-695
58. Sandhoff K, van Echten G (1994) Ganglioside metabolism: Enzymology, topology, and regulation. Prog Brain Res 101: 17-30
59. Sandhoff K, Klein A (1994) Intracellular trafficking of glycosphingolipids: Role of sphingolipid activator proteins in the topology of endocytosis and lysosomal digestion. FEBS Lett 346: 103-107
60. Sandhoff K, Kolter T (1996) Topology of glycosphingolipid degradation. Trends Cell Biol 6: 98-103
61. Sandhoff K, Schwarzmann G (1989) Dynamics of gangliosides in neuronal membranes. In: Progress in Zoology, Voume 37: Fundamentais of Memory Formation; Neuronal Plasticity and Brain Function., Rahmann H (ed.), pp. 229-239, VCH Publishers: New York
62. Schwarzmann G, Sandhoff K (1990) Metabolism and intracellular transport of glycosphingolipids. Biochemistry 29: 10865-10870
63. Scriver CR, Beaudet AL, Sly WS and Valle D (eds.) (1995) Lysosomal enzymes. The Metabolic and Molecular Bases of Inherited Disease, Chapters 76-92, pp. 2427-2879, McGraw-Hill: New York
64. Siegel DA, Walkley SU (1994) Growth of ectopic dendntes on cortical pyramidal neurons in neuronal storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 62: 1852-1862
65. Sleat DE, Donnelly, RJ, Lackland H, Liu C, Sohar I, Pullarkat RK, Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid -lipofuscinosis. Science 277: 1802-1805
66. Smith RS (1980) The short term accumulation of axonally transported organelles in the region of localized lesions of single myelinated axons. J Neurocytol 9: 39-65
67. Suzuki K (1976) Neuronal storage diseases: A review. In: Progress in Neuropathology, Zimmerman HM (ed.). Volume 3, pp. 173-202, Grune & Straton: New York
68. Suzuki K (1994) Molecular genetics of Tay-Sachs and related disorders: a personal account. J Neuropathol Exp Neurol 53: 344-350
69. Swanson JA, Watts C (1995) Macropinocytosis. Trends Cell Biol 5: 424-428
70. Terry R, Weiss M (1963) Studies in Tay-Sachs disease II. Ultrastructure of the cerebrum. J Neuropathol Exp Neurol 22: 18-55
71. Tsukita S, Ishikawa H (1980) The movement of membranous organelles in axons: electron microscopic identification of anterogradely and retrogradely transported organelles. J Cell Biol 84: 513-530
72. van Echten G, Sandhoff K (1993) Ganglioside metabolism - enzymology, topology and regulation. J Biol Chem 268: 5341-5344
73. van Meer G, Burger KNJ (1992) Sphingolipid trafficking -sorted out? Trends Cell Biol 2: 332-337
74. Wada I, Lai WH, Posner BI, Bergeron JJM (1992) Association of the tyrosine phosphorylated epidermal growth factor receptor with a 55-kD tyrosine phosphorylated protein at the cell surface and in endosomes. J Cell Biol 16: 321-330
75. Walkley SU (1987) Further studies on ectopic dendrite growth and other geometrical distortions of neurons in feline GM1 gangliosidosis. Neuroscience 21: 313-331
76. Walkley SU (1988) Pathobiology of neuronal storage disease. Int Rev Neurobiol 29: 191-244
77. Walkley SU (1995) Pyramidal neurons with ectopic dendrites in storage diseases contain elevated levels of GM2 ganglioside. Neuroscience 68: 1027-1035
78. Walkley SU, Wurzelmann, S (1995) Alterations in synaptic connectivity in cerebral cortex in neuronal storage diseases. Ment Retard Dev Disabilities Rev 1: 183-192
79. Walkley SU, Baker HJ (1984) Sphingomyelin lipidosis in a cat. II. Golgi studies. Acta Neuropathol (Berl) 65: 138-144
80. Waikley SU, Baker HJ, Rattazzi MC (1990) Initiation and growth of ectopic neurites and meganeurites during postnatal brain development in ganglioside storage disease. Dev Brain Res 51: 167-178
81. Waikley SU, Baker HJ, Rattazzi MC, Haskins ME, Wu J-Y (1991) Neuroaxonal dystrophy in neuronal storage disorders: Evidence for major GABAergic neuron involvement. J Neurol Sci 104: 1-8
82. Walkley SU, Blakemore WF, Purpura DP (1982) Alterations in neuron morphology in feline mannosidosis: A Golgi study. Acta Neuropathol (Berl) 53: 75-79
83. Walkley SU, Haskins ME, Shull RM (1988) Alterations in neuron morphology in mucopolysaccharide storage disorders. Acta Neuropathol (Berl) 75: 611-620
84. Walkley SU, March PA, Schroeder CE, Wurzelmann S, Jolly RD (1995) Pathogenesis of brain dysfunction in Batten's disease. Am J Med Genet 57: 196-203
85. Walkley SU, Pierok AL (1986) Ferric ion-ferrocyanide staining in ganglioside storage disease establishes that meganeurites are of axon hillock origin and distinct from axonal spheroids. Brain Res 382: 379-386
86. Walkley SU, Siegel DA (1989) Comparative studies of the CNS in swainsonine-induced and inherited feline α-man-nosidosis. in. Swainsonine and Related Glycosidase Inhibitors, James LF, Elbein AD, Molyneux RJ, Warren CD (eds.), pp. 57-75, Iowa State University Press: Ames
87. Walkley SU, Siegel DA, Dobrenis, K (1995) GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochem Res 20: 1287-1299
88. Walkley SU, Siegel DA, Wurzelmann S (1988) Ectopic dendritogenesis and associated synapse formation in swainsonine-induced neuronal storage disease. J Neurosci 8: 445-457
89. Walkley SU, Thrall MA, Dobrenis K, Huang M, March P, Siegel D. Wurzelmann S (1994) Bone marrow transplantation corrects the enzyme defect of the central nervous system in a lysosomal storage disease. Proc Natl Acad Sci USA 91: 2970-2974
90. Walkley SU, Wurzelmann S. Purpura DP (1981) Ultrastructure of neurites and meganeurites of cortical pyramidal neurons in feline gangliosidosis as revealed by the combined Golgi-EM technique. Brain Res 211: 393-398
91. Walkley SU, Wurzelmann S, Rattazzi MC, Baker, HJ (1990) Distribution of ectopic neurite growth and other geometrical distortions of neurons in feline GM2 gangliosidosis. Brain Res 510: 63-73
92. Walkley SU, Wurzelmann S, Siegel DA (1987) Ectopic axon hillock-associated neurite growth is maintained in metabolically reversed swainsonine-induced neuronal storage disease. Brain Res 410: 89-96
93. Williams RS, Lott, IT, Ferrante RJ, Caviness VS (1977) The cellular pathology of neuronal ceroid-lipofuscinosis. Arch Neurol 34: 298-305
94. Wong-Riley MTT (1989) Cytochrome oxidase: an endogenous metabolic marker for neuronal activity. Trends Neurosci 12: 94-101
95. Yates AJ (1986) Gangliosides in the nervous system during development and regeneration. Neurochem Pathol 5: 309-329
96. Yu RK (1994) Developmental regulation of ganglioside metabolism. Prog Brain Res 101: 31-44
97. Zeller CB, Marchase RB (1992) Gangliosides as modulators of cell function. Am J Physiol C1341-C1355
98. Zeman W, Donahue S (1963) Fine structure of the lipid bodies in juvenile amaurotic idiocy. Acta Neuropath (Berl) 3: 144-149