Abstract
As our knowledge of the specific genetic lesions responsible for many neurological disorders increases, we are finding that this information does not necessarily lead to therapeutic advances nor to a better understanding of disease processes. More often than not questions arise asking: What is the relationship between an isolated gene and the pathology and clinical presentation of the disease in question? This is true not only for the most recent genetic discoveries associated with specific neurological disorders, such as SOD and amyotrophic lateral sclerosis, apolipoprotein E and certain types of familial Alzheimer’s disease, and NCP1 and Niemann-Pick disease type C, but also for those inborn errors of metabolism whose causes have been long known, such as Tay-Sachs and other lysosomal storage diseases.
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References
Purpura DP, Suzuki K (1976) Distortion of neuronal geometry and formation of aberrant synapses in neuronal storage disease. Brain Res 116: 1–21
Purpura DP (1978) Ectopic dendrite growth in mature pyramidal neurones in human ganglio-side storage disease. Nature 276: 520–521
Purpura DP, Walkley SU (1981) Aberrant neurite and spine generation in mature neurons in the gangliosidoses. In: Rapport M, Gorio A (eds) Gangliosides in neurological and neuromuscular function, development and repair. Raven Press, New York, pp 1–16
Walkley SU (1987) Further studies on ectopic dendrite growth and other geometrical distortions of neurons in feline GM1 gangliosidosis. Neuroscience 21: 313–331
Walkley SU (1988) Pathobiology of neuronal storage disease. International Reviews of Neurobiology 29: 191–244
Walkley SU, Wurzelmann S, Rattazzi MC et al (1990) Distribution of ectopic neurite growth and other geometrical distortions of neurons in feline GM2 gangliosidosis. Brain Res 510: 63–73
Goodman LA, Livingston PO, Walkley SU (1991) Ectopic dendrites occur only on cortical pyramidal cells containing elevated GM2 ganglioside in a-mannosidosis. Proc Natl Acad Sci USA 88: 11330–11334
Walkley SU, Siegel DA, Dobrenis K (1995) GM2 ganglioside and pyramidal neuron dendritogenesis. Neurochemical Research 20: 1287–1299
Walkley SU, Wurzelmann S, Purpura D (1981) Ultrastructure of neuntes and meganeurites of cortical pyramidal neurons in feline gangliosidosis as revealed by the combined Golgi-EM technique. Brain Res 211: 393–398
Walkley SU, Siegel DA, Wurzelmann S (1988) Ectopic dendritogenesis and associated synapse formation in swainsonine-induced neuronal storage disease. J Neuroscience 8: 445–457
Walkley SU, Siegel DA, Dobrenis K (1998) GM2 Ganglioside as a regulator of pyramidal neuron dendritogenesis. In: Hakomori S, Ledeen R, Schneider J et al (eds) Sphingolipids as signalling modulators in the nervous system. Annals of the New York Academy of Sciences 845: 188–199
Walkley SU, Siegel DA, Dobrenis K (1995) GM2 Ganglioside and pyramidal neuron dendritogenesis. Neurochemical Research 20: 1287–1299
Siegel DA, Walkley SU (1994) Growth of ectopic dendrites on cortical pyramidal neurons in non-ganglioside storage diseases correlates with abnormal accumulation of GM2 ganglioside. J Neurochem 62: 1852–1862
Walkley SU, Thrall MA, Dobrenis K et al (1994) Evidence for correction of enzymatic defect in CNS neurons in a-mannosidosis following bone marrow transplant. Proc Natl Acad Sci (USA) 91: 2970–2974
Walkley SU, Thrall MA, Dobrenis K et al (1992) Evidence for correction of enzyme defect in CNS neurons in a lysosomal storage disease following bone marrow transplant. Proc Soc Inherited Metabolic Diseases
Walkley SU, Thrall MA, Dobrenis K (1996) Targeting gene products to the brain and neurons using bone marrow transplantation: a cell-mediated delivery system for therapy of inherited metabolic human disease. In: Lowenstein P, Enquist L (eds) Gene transfer into neurons: Towards gene therapy of neurological disorders. Wiley, New York, pp 275–302
Dobrenis K (1998) Microglia in cell culture and in transplantation therapy for CNS disease. In: Rosental R, Chiu FC (eds) Methods: A companion to methods in enzymology: Techniques for purification, functional evaluation and transplantation of brain cells. Academic Press, New York, Vol 16, pp 320–344
Dobrenis K, Finamore PS, Masui R et al (1996) Secretion of lysosomal glycosidases by microglia in culture. Molec Biol Cell 7 [Suppl]: 325a
Siegel DA, Walkley SU, Suzuki K (1982) Characterization of specific a-mannosidase inhibitor from locoweed. Trans Am Soc Neurochem 13: 159
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
Liang P, Pardee AB (1992) Differential display of eukaryotic messenger RNA by means of the polymerase chain reaction. Science 257: 967–971
Liang P, Averboukh L, Pardee AB (1993) Distribution and cloning of eukaryotic mRNAs by means of differential display: refinements and optimization. Nucleic Acids Res 21: 3269–3275
Bauer D, Muller H, Reich Jet al (1993) Identification of differentially expressed mRNA species by an improved display technique ( DDRT-PCR ). Nucleic Acids Research 21: 4272–4280
Carlberg M, Dricu A, Blegen H et al (1996) Mevalonic acid is limiting for N-linked glycosylation and translocation of the insulin-like growth factor-1 receptor to the cell surface. Evidence for a new link between 3-hydroxy-3-methylglutaryl-coenzyme A reductase and cell growth. J Biol Chem 271: 17453–17462
Perez-Sala D, Mollinedo F (1994) Inhibition of isoprenoid biosynthesis induces apoptosis in human promyelocytic HL-60 cells. Biochem Biophys Res Com 199: 1209–1215
Goalstone ML, Draznin B (1996) Effect of insulin on farnesyltransferase activity in 3T3–L1 adipocytes. J Biol Chem 271: 27585–27589
Cuthbert JA, Lipsky PE (1995) Suppression of the proliferation of Ras-transformed cells by fluormevalonate, an inhibitor of mevalonate metabolism. Cancer Research 55: 1732–1740
Larsson O, Blegen H (1994) Inhibitory effect of mevalonate on the EGF mitogenic signaling pathway in human breast cancer cells in culture. Cancer Biochem Biophys 14: 193–200
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Siegel, D.A., Huang, M., Walkley, S. (2000). Repair Mechanisms in the CNS. In: Gullo, A. (eds) Anesthesia, Pain, Intensive Care and Emergency Medicine — A.P.I.C.E.. Springer, Milano. https://doi.org/10.1007/978-88-470-2286-7_41
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DOI: https://doi.org/10.1007/978-88-470-2286-7_41
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