The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease
Open accessAbstract
Huntington's disease (HD) is an autosomal dominant disorder caused by an expansion of glutamine repeats in ubiquitously distributed huntingtin protein. Recent studies have shown that mutant huntingtin interferes with the function of widely expressed transcription factors, suggesting that gene expression may be altered in a variety of tissues in HD, including peripheral blood. Affymetrix and Amersham Biosciences oligonucleotide microarrays were used to analyze global gene expression in blood samples of HD patients and matched controls. We identified 322 mRNAs that showed significantly altered expression in HD blood samples, compared with controls ( P < 0.0005), on two different microarray platforms. A subset of up-regulated mRNAs selected from this group was able to distinguish controls, presymptomatic individuals carrying the HD mutation, and symptomatic HD patients. In addition, early presymptomatic subjects showed gene expression profiles similar to those of controls, whereas late presymptomatic subjects showed altered expression that resembled that of symptomatic HD patients. These elevated mRNAs were significantly reduced in HD patients involved in a dose-finding study of the histone deacetylase inhibitor sodium phenylbutyrate. Furthermore, expression of the marker genes was significantly up-regulated in postmortem HD caudate, suggesting that alterations in blood mRNAs may reflect disease mechanisms observed in HD brain. In conclusion, we identified changes in blood mRNAs that clearly distinguish HD patients from controls. These alterations in mRNA expression correlate with disease progression and response to experimental treatment. Such markers may provide clues to the state of HD and may be of predictive value in clinical trials.
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Cites
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method
Livak, K. J., & Schmittgen, T. D. (2001) · Methods · doi:10.1006/meth.2001.1262 · Cited by 180,860
Mutation of the mouse klotho gene leads to a syndrome resembling ageing
Kuro-o, M., Matsumura, Y., Aizawa, H., Kawaguchi, H., Suga, T., Utsugi, T., Ohyama, Y., Kurabayashi, M., Kaname, T., Kume, E., et al. (1997) · Nature · doi:10.1038/36285 · Cited by 3,837
G. Vonsattel, J. P., & DiFiglia, M. (1998) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-199805000-00001 · Cited by 1,306
Histone deacetylase inhibitors arrest polyglutamine-dependent neurodegeneration in Drosophila
Steffan, J. S., Bodai, L., Pallos, J., Poelman, M., McCampbell, A., Apostol, B. L., Kazantsev, A., Schmidt, E., Zhu, Y.-Z., Greenwald, M., et al. (2001) · Nature · doi:10.1038/35099568 · Cited by 1,228
Hockly, E., Richon, V. M., Woodman, B., Smith, D. L., Zhou, X., Rosa, E., Sathasivam, K., Ghazi-Noori, S., Mahal, A., Lowden, P. A. S., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0437870100 · Cited by 845
Decreased expression of striatal signaling genes in a mouse model of Huntington's disease
Luthi-Carter, R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1259 · Cited by 720
Sp1 and TAFII130 Transcriptional Activity Disrupted in Early Huntington's Disease
Dunah, A. W., Jeong, H., Griffin, A., Kim, Y.-M., Standaert, D. G., Hersch, S. M., Mouradian, M. M., Young, A. B., Tanese, N., & Krainc, D. (2002) · Science · doi:10.1126/science.1072613 · Cited by 708
Self-citationFerrante, R. J., Kubilus, J. K., Lee, J., Ryu, H., Beesen, A., Zucker, B., Smith, K., Kowall, N. W., Ratan, R. R., Luthi-Carter, R., et al. (2003) · The Journal of Neuroscience · doi:10.1523/jneurosci.23-28-09418.2003 · Cited by 693
Self-citationWelsh, J. B., Zarrinkar, P. P., Sapinoso, L. M., Kern, S. G., Behling, C. A., Monk, B. J., Lockhart, D. J., Burger, R. A., & Hampton, G. M. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.98.3.1176 · Cited by 654
Sawa, A., Wiegand, G. W., Cooper, J., Margolis, R. L., Sharp, A. H., Lawler, J. F., Greenamyre, J. T., Snyder, S. H., & Ross, C. A. (1999) · Nature Medicine · doi:10.1038/13518 · Cited by 552
Cited by
Walker, F. O. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60111-1 · Cited by 2,603
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Zuccato, C., Valenza, M., & Cattaneo, E. (2010) · Physiological Reviews · doi:10.1152/physrev.00041.2009 · Cited by 848
Epigenetic and immune function profiles associated with posttraumatic stress disorder
Uddin, M., Aiello, A. E., Wildman, D. E., Koenen, K. C., Pawelec, G., de los Santos, R., Goldmann, E., & Galea, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0910794107 · Cited by 518
Long non-coding RNAs in Huntington's disease neurodegeneration
Johnson, R. (2012) · Neurobiology of Disease · doi:10.1016/j.nbd.2011.12.006 · Cited by 398
A microRNA-based gene dysregulation pathway in Huntington's disease
Johnson, R., Zuccato, C., Belyaev, N. D., Guest, D. J., Cattaneo, E., & Buckley, N. J. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2007.11.001 · Cited by 312
Metadata
- Authors
- Borovecki, F., Lovrecic, L., Zhou, J., Jeong, H., Then, F., Rosas, H. D., Hersch, S. M., Hogarth, P., Bouzou, B., Jensen, R. V., & Krainc, D.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2005-07-25
- Volume
- 102
- Issue
- 31
- Pages
- 11023-11028
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2156809732
- Cited by
- 414
- References
- 18
- FWCI
- 11.44
- Type
- journal article
- Language
- en
- Open access
- green
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- Borovecki, F., Lovrecic, L., Zhou, J., Jeong, H., Then, F., Rosas, H. D., Hersch, S. M., Hogarth, P., Bouzou, B., Jensen, R. V., & Krainc, D. (2005). Genome-wide expression profiling of human blood reveals biomarkers for Huntington's disease. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.0504921102
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