The DOI matches its Crossref record; 43 of the 43 references it cites were found in a registry or an index.
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
Abstract
Machado‐Joseph disease (MJD) is one of at least six neurodegenerative diseases caused by expansion of a CAG repeat encoding a polyglutamine tract in the disease protein. To study the molecular mechanism of disease, we isolated both normal and expanded repeat MJD1 cDNAs, and generated antiserum against the recombinant gene product, called ataxin‐3. Using this antiserum, we demonstrate that in disease tissue, both the normal and mutant ataxin‐3 protein are expressed throughout the body and in all regions of the brain examined, including areas generally spared by disease. In brain, certain regions (the striatum, for example) express ataxin‐3 in only a limited subset of neurons. Immunolocalization studies in normal and disease brain, and in transfected cells, indicate that ataxin‐3 is predominantly a cytoplasmic protein that localizes to neuronal processes as well. We conclude that in MJD, as in other polyglutamine repeat diseases, cellular expression of the disease gene is not itself sufficient to cause neuronal degeneration; other cell‐specific factors must be invoked to explain the restricted neuropathology seen in MJD. The restricted expression of ataxin‐3 in certain regions, however, may influence the pattern of neurodegeneration and provide clues to the protein's function.
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Cites
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Self-citationCAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
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Cited by
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P., Mandel, J.-L., Fischbeck, K. H., & Pittman, R. N. (1997) · Neuron · doi:10.1016/s0896-6273(00)80943-5 · Cited by 830
Self-citationExpanded Polyglutamine Protein Forms Nuclear Inclusions and Causes Neural Degeneration in Drosophila
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Self-citationNeuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
Greco, C. M. (2002) · Brain · doi:10.1093/brain/awf184 · Cited by 560
Allele-specific silencing of dominant disease genes
Miller, V. M., Xia, H., Marrs, G. L., Gouvion, C. M., Lee, G., Davidson, B. L., & Paulson, H. L. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1231012100 · Cited by 400
Self-citationPolyglutamine tracts regulate beclin 1-dependent autophagy
Ashkenazi, A., Bento, C. F., Ricketts, T., Vicinanza, M., Siddiqi, F., Pavel, M., Squitieri, F., Hardenberg, M. C., Imarisio, S., Menzies, F. M., et al. (2017) · Nature · doi:10.1038/nature22078 · Cited by 357
Metadata
- Authors
- Paulson, H. L., Das, S. S., Crino, P. B., Perez, M. K., Patel, S. C., Gotsdiner, D., Fischbeck, K. H., & Pittman, R. N.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1997-04
- Volume
- 41
- Issue
- 4
- Pages
- 453-462
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W2042811939
- Cited by
- 271
- References
- 43
- FWCI
- 6.08
- Type
- journal article
- Language
- en
- Open access
- closed
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- Paulson, H. L., Das, S. S., Crino, P. B., Perez, M. K., Patel, S. C., Gotsdiner, D., Fischbeck, K. H., & Pittman, R. N. (1997). Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain. Annals of Neurology. https://doi.org/10.1002/ana.410410408
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