The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
Abstract
Tay-Sachs and Sandhoff diseases are lysosomal storage disorders characterized by the absence of beta-hexosaminidase activity and the accumulation of GM2 ganglioside in neurons. In each disorder, a virtually identical course of neurodegeneration begins in infancy and leads to demise generally by 4-6 years of age. Through serial analysis of gene expression (SAGE), we determined gene expression profiles in cerebral cortex from a Tay-Sachs patient, a Sandhoff disease patient and a pediatric control. Examination of genes that showed altered expression in both patients revealed molecular details of the pathophysiology of the disorders relating to neuronal dysfunction and loss. A large fraction of the elevated genes in the patients could be attributed to activated macrophages/microglia and astrocytes, and included class II histocompatability antigens, the pro-inflammatory cytokine osteopontin, complement components, proteinases and inhibitors, galectins, osteonectin/SPARC, and prostaglandin D2 synthase. The results are consistent with a model of neurodegeneration that includes inflammation as a factor leading to the precipitous loss of neurons in individuals with these disorders.
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Cites
MICROGLIA AS MEDIATORS OF INFLAMMATORY AND DEGENERATIVE DISEASES
González-Scarano, F., & Baltuch, G. (1999) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.22.1.219 · Cited by 984
McGeer, P. L., Itagaki, S., Tago, H., & McGeer, E. G. (1987) · Neuroscience Letters · doi:10.1016/0304-3940(87)90696-3 · Cited by 836
The influence of the proinflammatory cytokine, osteopontin, on autoimmune demyelinating disease
Chabas, D., Baranzini, S. E., Mitchell, D., Bernard, C. C. A., Rittling, S. R., Denhardt, D. T., Sobel, R. A., Lock, C., Karpuj, M., Pedotti, R., et al. (2001) · Science · doi:10.1126/science.1062960 · Cited by 829 · cited 1×
“Elevated genes related to inflammatory responses and reported to be expressed by activated glia were prostoglandin D2 synthase (18), clusterin (12), cathepsin B (7) and the proinflammatory cytokine, osteopontin (19).”
BackgroundDodds, D. C., Omeis, I. A., Cushman, S. J., Helms, J. A., & Perin, M. S. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.34.21488 · Cited by 170
Cited by
Enzymes of the Cyclooxygenase Pathways of Prostanoid Biosynthesis
Smith, W. L., Urade, Y., & Jakobsson, P.-J. (2011) · Chemical Reviews · doi:10.1021/cr2002992 · Cited by 503
The role of osteopontin in foreign body giant cell formation
Tsai, A. T., Rice, J., Scatena, M., Liaw, L., Ratner, B. D., & Giachelli, C. M. (2005) · Biomaterials · doi:10.1016/j.biomaterials.2005.03.003 · Cited by 71
Allende, M. L., Zhu, H., Kono, M., Hoachlander-Hobby, L. E., Huso, V. L., & Proia, R. L. (2021) · Cellular Signalling · doi:10.1016/j.cellsig.2020.109879 · Cited by 37
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Metadata
- Authors
- Myerowitz, R.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-05-16
- Volume
- 11
- Issue
- 11
- Pages
- 1343-1351
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2128541330
- Cited by
- 173
- References
- 4
- FWCI
- 6.98
- Type
- journal article
- Language
- en
- Open access
- closed
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