The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Neurological abnormalities in a knock-in mouse model of Huntington's disease
Abstract
Mice representing precise genetic replicas of Huntington's disease (HD) were made using gene targeting to replace the short CAG repeat of the mouse Huntington's disease gene homolog (HDH:) with CAG repeats within the length range found to cause HD in humans. Mice with alleles of approximately 150 units in length exhibit late-onset behavioral and neuroanatomic abnormalities consistent with HD. These symptoms include a motor task deficit, gait abnormalities, reactive gliosis and the formation of neuronal intranuclear inclusions predominating in the striatum. This model differs from previously described HDH: knock-ins by its method of construction, longer repeat length and more severe phenotype. To our knowledge, this is the first knock-in mouse model of HD to show increased glial fibrillary acidic protein immunoreactivity in the striatum, suggesting that these mice have neuronal injury similar to that found early in the course of HD. These mice will serve as useful reagents in experiments designed to reveal the molecular nature of neuronal dysfunction underlying HD.
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Cites
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Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
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Homozygotes for Huntington's disease
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Cited by
Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease
Zuccato, C., Valenza, M., & Cattaneo, E. (2010) · Physiological Reviews · doi:10.1152/physrev.00041.2009 · Cited by 848
Harper, S. Q., Staber, P. D., He, X., Eliason, S. L., Martins, I. H., Mao, Q., Yang, L., Kotin, R. M., Paulson, H. L., & Davidson, B. L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501507102 · Cited by 682
Tests to assess motor phenotype in mice: a user's guide
Brooks, S. P., & Dunnett, S. B. (2009) · Nature Reviews Neuroscience · doi:10.1038/nrn2652 · Cited by 621
Choo, Y. S. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh162 · Cited by 515
Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies
Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C. (2017) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024240 · Cited by 507
Metadata
- Authors
- Lin, C.-H.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2001-01-01
- Volume
- 10
- Issue
- 2
- Pages
- 137-144
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2142125979
- Cited by
- 592
- References
- 25
- FWCI
- 9.97
- Type
- journal article
- Language
- en
- Open access
- closed
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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