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Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
Open accessAbstract
Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.
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“we employed a recombinant serotype of an adeno-associated virus (AAV2/5) that is known to be highly specific for glial cells 24 .”
From SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes (2021) · cites this paper as [24]
In the citing paper
“R6/2 mice express exon 1 and promoter sequences of the human HD gene inserted into the mouse genome and carry 141-157 CAG repeats (Mangiarini et al., 1996).”
From Dendritic Spine Instability Leads to Progressive Neocortical Spine Loss in a Mouse Model of Huntington's Disease (2013) · cites this paper as Mangiarini et al., 1996
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“The R6/2 line is a short-lived and rapidly progressing mouse model of Huntington's disease that displays motor and behavioural deficits beginning around 7 weeks of age and progressing until an early death at 11-13 weeks (Mangiarini et al. , 1996).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Mangiarini et al., 1996
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Citations
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
Spada, A. L., Wilson, E. M., Lubahn, D. B., Harding, A., & Fischbeck, K. (1991) · Nature · doi:10.1038/352077a0 · Cited by 2,801
Neuropathological Classification of Huntingtonʼs Disease
VONSATTEL, J.-P., MYERS, R. H., STEVENS, T. J., FERRANTE, R. J., BIRD, E. D., & RICHARDSON, E. P. (1985) · Journal of Neuropathology and Experimental Neurology · doi:10.1097/00005072-198511000-00003 · Cited by 2,227
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Kawaguchi, Y., Okamoto, T., Taniwaki, M., Aizawa, M., Inoue, M., Katayama, S., Kawakami, H., Nakamura, S., Nishimura, M., Akiguchi, I., et al. (1994) · Nature Genetics · doi:10.1038/ng1194-221 · Cited by 1,753
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Orr, H. T., Chung, M.-Y., Banfi, S., Kwiatkowski, T. J., Servadio, A., Beaudet, A. L., McCall, A. E., Duvick, L. A., Ranum, L. P. W., & Zoghbi, H. Y. (1993) · Nature Genetics · doi:10.1038/ng0793-221 · Cited by 1,632 · cited 1×
“…the features of HD, including choreiformSpada et al., 1991), spinocerebellar ataxia type 1 (SCA1)like movements, involuntary stereotypic movements, (Orr et al., 1993), dentatorubral-pallidoluysian atrophytremor, and epileptic seizures, as well as nonmove(DRPLA) (Koide et al., 1994), and Machado…”
BackgroundGenetic variants and strains of the laboratory mouse
(1990) · Choice Reviews Online · doi:10.5860/choice.28-1324 · Cited by 1,492
Unstable expansion of CAG repeat in hereditary dentatorubral–pallidoluysian atrophy (DRPLA)
Koide, R., Ikeuchi, T., Onodera, O., Tanaka, H., Igarashi, S., Endo, K., Takahashi, H., Kondo, R., Ishikawa, A., Hayashi, T., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-9 · Cited by 1,109
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
DiFiglia, M., Sapp, E., Chase, K., Schwarz, C., Meloni, A., Young, C., Martin, E., Vonsattel, J.-P., Carraway, R., Reeves, S. A., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90346-1 · Cited by 749
Progressive proximal spinal and bulbar muscular atrophy of late onset
Kennedy, W. R., Alter, M., & Sung, J. H. (1998) · Neurology · doi:10.1212/wnl.50.3.583 · Cited by 680
Progressive proximal spinal and bulbar muscular atrophy of late onset
Kennedy, W. R., Alter, M., & Sung, J. H. (1968) · Neurology · doi:10.1212/wnl.18.7.671 · Cited by 667
Research works printed but not linked: 3
- Harper, P.S. (1991). Huntington's Disease (London: W.B. Saunders).
- Lauder, 1954, A survey of canine distemper, Veterinary Record, 66, 607
- Zoghbi, H.Y. (1993). In Current Neurology, S.H. Appel, ed. (St. Louis, MO: Mosby–Year Book), pp. 87–110.
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Hara, T., Nakamura, K., Matsui, M., Yamamoto, A., Nakahara, Y., Suzuki-Migishima, R., Yokoyama, M., Mishima, K., Saito, I., Okano, H., et al. (2006) · Nature · doi:10.1038/nature04724 · Cited by 3,882
Ravikumar, B., Vacher, C., Berger, Z., Davies, J. E., Luo, S., Oroz, L. G., Scaravilli, F., Easton, D. F., Duden, R., O'Kane, C. J., et al. (2004) · Nature Genetics · doi:10.1038/ng1362 · Cited by 2,347
Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death
Arrasate, M., Mitra, S., Schweitzer, E. S., Segal, M. R., & Finkbeiner, S. (2004) · Nature · doi:10.1038/nature02998 · Cited by 1,979
Enriched environments, experience-dependent plasticity and disorders of the nervous system
Nithianantharajah, J., & Hannan, A. J. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1970 · Cited by 1,771
Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets
Gao, C., Jiang, J., Tan, Y., & Chen, S. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01588-0 · Cited by 1,616
Unfolding the role of protein misfolding in neurodegenerative diseases
Soto, C. (2003) · Nature Reviews Neuroscience · doi:10.1038/nrn1007 · Cited by 1,506
Innate immune activation in neurodegenerative disease
Heneka, M. T., Kummer, M. P., & Latz, E. (2014) · Nature Reviews Immunology · doi:10.1038/nri3705 · Cited by 1,437
Scherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., & Wanker, E. E. (1997) · Cell · doi:10.1016/s0092-8674(00)80514-0 · Cited by 1,291
Self-citationHistone 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
Defects in Adaptive Energy Metabolism with CNS-Linked Hyperactivity in PGC-1α Null Mice
Lin, J., Wu, P.-H., Tarr, P. T., Lindenberg, K. S., St-Pierre, J., Zhang, C.-Y., Mootha, V. K., Jäger, S., Vianna, C. R., Reznick, R. M., et al. (2004) · Cell · doi:10.1016/j.cell.2004.09.013 · Cited by 1,162
Kouroku, Y., Fujita, E., Tanida, I., Ueno, T., Isoai, A., Kumagai, H., Ogawa, S., Kaufman, R. J., Kominami, E., & Momoi, T. (2007) · Cell Death & Differentiation · doi:10.1038/sj.cdd.4401984 · Cited by 934
Mitochondrial Dysfunction in Neurodegenerative Diseases
Johri, A., & Beal, M. F. (2012) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.112.192138 · Cited by 806
Short-sequence DNA repeats in prokaryotic genomes
van Belkum, A., Scherer, S., van Alphen, L., & Verbrugh, H. (1998) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.62.2.275-293.1998 · Cited by 737
Disruption of CREB function in brain leads to neurodegeneration
Mantamadiotis, T., Lemberger, T., Bleckmann, S. C., Kern, H., Kretz, O., Villalba, A. M., Tronche, F., Kellendonk, C., Gau, D., Kapfhammer, J., et al. (2002) · Nature Genetics · doi:10.1038/ng882 · Cited by 684
Neurogenesis and Exercise: Past and Future Directions
van Praag, H. (2008) · NeuroMolecular Medicine · doi:10.1007/s12017-008-8028-z · Cited by 645
Rodent models in neuroscience research: is it a rat race?
Ellenbroek, B., & Youn, J. (2016) · Disease Models & Mechanisms · doi:10.1242/dmm.026120 · Cited by 627
Weydt, P., Pineda, V. V., Torrence, A. E., Libby, R. T., Satterfield, T. F., Lazarowski, E. R., Gilbert, M. L., Morton, G. J., Bammler, T. K., Strand, A. D., et al. (2006) · Cell Metabolism · doi:10.1016/j.cmet.2006.10.004 · Cited by 562
Allele-selective lowering of mutant HTT protein by HTT–LC3 linker compounds
Li, Z., Wang, C., Wang, Z., Zhu, C., Li, J., Sha, T., Ma, L., Gao, C., Yang, Y., Sun, Y., et al. (2019) · Nature · doi:10.1038/s41586-019-1722-1 · Cited by 551
Neuroprotective Effects of Creatine in a Transgenic Mouse Model of Huntington's Disease
Ferrante, R. J., Andreassen, O. A., Jenkins, B. G., Dedeoglu, A., Kuemmerle, S., Kubilus, J. K., Kaddurah-Daouk, R., Hersch, S. M., & Beal, M. F. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-12-04389.2000 · Cited by 522
Oxidative stress in Huntington’s disease
Browne, S. E., Ferrante, R. J., & Beal, M. F. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00216.x · Cited by 508
Global changes to the ubiquitin system in Huntington's disease
Bennett, E. J., Shaler, T. A., Woodman, B., Ryu, K.-Y., Zaitseva, T. S., Becker, C. H., Bates, G. P., Schulman, H., & Kopito, R. R. (2007) · Nature · doi:10.1038/nature06022 · Cited by 497
Self-citationGoehler, H., Lalowski, M., Stelzl, U., Waelter, S., Stroedicke, M., Worm, U., Droege, A., Lindenberg, K. S., Knoblich, M., Haenig, C., et al. (2004) · Molecular Cell · doi:10.1016/j.molcel.2004.09.016 · Cited by 453
Self-citationRegulation of intracellular accumulation of mutant Huntingtin by Beclin 1
Shibata, M., Lu, T., Furuya, T., Degterev, A., Mizushima, N., Yoshimori, T., MacDonald, M., Yankner, B., & Yuan, J. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m600364200 · Cited by 458
Pich, S., Bach, D., Briones, P., Liesa, M., Camps, M., Testar, X., Palacín, M., & Zorzano, A. (2005) · Human Molecular Genetics · doi:10.1093/hmg/ddi149 · Cited by 455
Huntington's disease: from pathology and genetics to potential therapies
Imarisio, S., Carmichael, J., Korolchuk, V., Chen, C.-W., Saiki, S., Rose, C., Krishna, G., Davies, J. E., Ttofi, E., Underwood, B. R., et al. (2008) · Biochemical Journal · doi:10.1042/bj20071619 · Cited by 409
Disintegration of the sleep-wake cycle and circadian timing in Huntington's disease
Morton, A. J., Wood, N. I., Hastings, M. H., Hurelbrink, C., Barker, R. A., & Maywood, E. S. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.3842-04.2005 · Cited by 403
Murphy, K. P. S. J., Carter, R. J., Lione, L. A., Mangiarini, L., Mahal, A., Bates, G. P., Dunnett, S. B., & Morton, A. J. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-13-05115.2000 · Cited by 398
Self-citationMolecular mechanisms underlying nucleotide repeat expansion disorders
Malik, I., Kelley, C. P., Wang, E. T., & Todd, P. K. (2021) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00382-6 · Cited by 363
Therapeutic Effects of Coenzyme Q10and Remacemide in Transgenic Mouse Models of Huntington's Disease
Ferrante, R. J., Andreassen, O. A., Dedeoglu, A., Ferrante, K. L., Jenkins, B. G., Hersch, S. M., & Beal, M. F. (2002) · The Journal of Neuroscience · doi:10.1523/jneurosci.22-05-01592.2002 · Cited by 391
The epigenetics of aging and neurodegeneration
Lardenoije, R., Iatrou, A., Kenis, G., Kompotis, K., Steinbusch, H. W. M., Mastroeni, D., Coleman, P., Lemere, C. A., Hof, P. R., van den Hove, D. L. A., et al. (2015) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2015.05.002 · Cited by 381
Microglial CB2 cannabinoid receptors are neuroprotective in Huntington's disease excitotoxicity
Palazuelos, J., Aguado, T., Pazos, M. R., Julien, B., Carrasco, C., Resel, E., Sagredo, O., Benito, C., Romero, J., Azcoitia, I., et al. (2009) · Brain · doi:10.1093/brain/awp239 · Cited by 382
Mutant Huntingtin promotes autonomous microglia activation via myeloid lineage-determining factors
Crotti, A., Benner, C., Kerman, B. E., Gosselin, D., Lagier-Tourenne, C., Zuccato, C., Cattaneo, E., Gage, F. H., Cleveland, D. W., & Glass, C. K. (2014) · Nature Neuroscience · doi:10.1038/nn.3668 · Cited by 333
Ajami, B., Samusik, N., Wieghofer, P., Ho, P. P., Crotti, A., Bjornson, Z., Prinz, M., Fantl, W. J., Nolan, G. P., & Steinman, L. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0100-x · Cited by 338
Chaperone-mediated autophagy prevents collapse of the neuronal metastable proteome
Bourdenx, M., Martín-Segura, A., Scrivo, A., Rodriguez-Navarro, J. A., Kaushik, S., Tasset, I., Diaz, A., Storm, N. J., Xin, Q., Juste, Y. R., et al. (2021) · Cell · doi:10.1016/j.cell.2021.03.048 · Cited by 337
Alexander, A. G., Marfil, V., & Li, C. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00279 · Cited by 310
Lee, H., Fenster, R. J., Pineda, S. S., Gibbs, W. S., Mohammadi, S., Davila-Velderrain, J., Garcia, F. J., Therrien, M., Novis, H. S., Gao, F., et al. (2020) · Neuron · doi:10.1016/j.neuron.2020.06.021 · Cited by 279
Andreassen, O. A., Dedeoglu, A., Ferrante, R. J., Jenkins, B. G., Ferrante, K. L., Thomas, M., Friedlich, A., Browne, S. E., Schilling, G., Borchelt, D. R., et al. (2001) · Neurobiology of Disease · doi:10.1006/nbdi.2001.0406 · Cited by 293
Drouin‐Ouellet, J., Sawiak, S. J., Cisbani, G., Lagacé, M., Kuan, W., Saint‐Pierre, M., Dury, R. J., Alata, W., St‐Amour, I., Mason, S. L., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24406 · Cited by 288
Miller, B. R., Dorner, J. L., Shou, M., Sari, Y., Barton, S. J., Sengelaub, D. R., Kennedy, R. T., & Rebec, G. V. (2008) · Neuroscience · doi:10.1016/j.neuroscience.2008.02.004 · Cited by 280
Tsvetkov, A. S., Miller, J., Arrasate, M., Wong, J. S., Pleiss, M. A., & Finkbeiner, S. (2010) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1004498107 · Cited by 266
Pang, T. Y. C., Stam, N. C., Nithianantharajah, J., Howard, M. L., & Hannan, A. J. (2006) · Neuroscience · doi:10.1016/j.neuroscience.2006.04.013 · Cited by 265
Astrocyte molecular signatures in Huntington’s disease
Diaz-Castro, B., Gangwani, M. R., Yu, X., Coppola, G., & Khakh, B. S. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aaw8546 · Cited by 255
Kinase inhibitors modulate huntingtin cell localization and toxicity
Atwal, R. S., Desmond, C. R., Caron, N., Maiuri, T., Xia, J., Sipione, S., & Truant, R. (2011) · Nature Chemical Biology · doi:10.1038/nchembio.582 · Cited by 204
The Energetics of Huntington's Disease
Browne, S. E., & Beal, M. F. (2004) · Neurochemical Research · doi:10.1023/b:nere.0000014824.04728.dd · Cited by 240
Jiang, R., Diaz-Castro, B., Looger, L. L., & Khakh, B. S. (2016) · The Journal of Neuroscience · doi:10.1523/jneurosci.3693-15.2016 · Cited by 237
Fujita, E., Tanabe, Y., Shiota, A., Ueda, M., Suwa, K., Momoi, M. Y., & Momoi, T. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0712298105 · Cited by 233
Hansson, O., Petersén, Å., Leist, M., Nicotera, P., Castilho, R. F., & Brundin, P. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.15.8727 · Cited by 228
The HD iPSC Consortium, Lim, R. G., Salazar, L. L., Wilton, D. K., King, A. R., Stocksdale, J. T., Sharifabad, D., Lau, A. L., Stevens, B., Reidling, J. C., et al. (2017) · Nature Neuroscience · doi:10.1038/nn.4532 · Cited by 221
The RNA-binding protein HuD regulates neuronal cell identity and maturation
Akamatsu, W., Fujihara, H., Mitsuhashi, T., Yano, M., Shibata, S., Hayakawa, Y., Okano, H. J., Sakakibara, S.-I., Takano, H., Takano, T., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407523102 · Cited by 222
Transfer of polyglutamine aggregates in neuronal cells occurs in tunneling nanotubes
Costanzo, M., Abounit, S., Marzo, L., Danckaert, A., Chamoun, Z., Roux, P., & Zurzolo, C. (2013) · Journal of Cell Science · doi:10.1242/jcs.126086 · Cited by 210
The biosynthesis, signaling, and neurological functions of bile acids
Kiriyama, Y., & Nochi, H. (2019) · Biomolecules · doi:10.3390/biom9060232 · Cited by 204
Autophagy and Its Normal and Pathogenic States in the Brain
Yamamoto, A., & Yue, Z. (2014) · Annual Review of Neuroscience · doi:10.1146/annurev-neuro-071013-014149 · Cited by 204
Human glia can both induce and rescue aspects of disease phenotype in Huntington disease
Benraiss, A., Wang, S., Herrlinger, S., Li, X., Chandler-Militello, D., Mauceri, J., Burm, H. B., Toner, M., Osipovitch, M., Jim Xu, Q., et al. (2016) · Nature Communications · doi:10.1038/ncomms11758 · Cited by 199
Nguyen, T., Hamby, A., & Massa, S. M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0502177102 · Cited by 194
Vercruysse, P., Vieau, D., Blum, D., Petersén, Å., & Dupuis, L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00002 · Cited by 172
Cognitive disorders and neurogenesis deficits in Huntington’s disease mice are rescued by fluoxetine
Grote, H. E., Bull, N. D., Howard, M. L., Van Dellen, A., Blakemore, C., Bartlett, P. F., & Hannan, A. J. (2005) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2005.04365.x · Cited by 179
Mitochondria and Huntington's Disease Pathogenesis: Insight from Genetic and Chemical Models
Browne, S. E. (2008) · Annals of the New York Academy of Sciences · doi:10.1196/annals.1427.018 · Cited by 176
In-Vivo Electrochemistry: What Can We Learn about Living Systems?
Wilson, G. S., & Johnson, M. A. (2008) · Chemical Reviews · doi:10.1021/cr068082i · Cited by 178
Proteostasis of polyglutamine varies among neurons and predicts neurodegeneration
Tsvetkov, A. S., Arrasate, M., Barmada, S., Ando, D. M., Sharma, P., Shaby, B. A., & Finkbeiner, S. (2013) · Nature Chemical Biology · doi:10.1038/nchembio.1308 · Cited by 178
Mielcarek, M., Landles, C., Weiss, A., Bradaia, A., Seredenina, T., Inuabasi, L., Osborne, G. F., Wadel, K., Touller, C., Butler, R., et al. (2013) · PLoS Biology · doi:10.1371/journal.pbio.1001717 · Cited by 172
Self-citationCrapser, J. D., Ochaba, J., Soni, N., Reidling, J. C., Thompson, L. M., & Green, K. N. (2020) · Brain · doi:10.1093/brain/awz363 · Cited by 157
Dedeoglu, A., Kubilus, J. K., Yang, L., Ferrante, K. L., Hersch, S. M., Beal, M. F., & Ferrante, A. R. J. (2003) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.2003.01706.x · Cited by 169
Excitatory Amino Acid Transporters in Physiology and Disorders of the Central Nervous System
Malik, A. R., & Willnow, T. E. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20225671 · Cited by 170
Exosome-Based Delivery of miR-124 in a Huntington’s Disease Model
Lee, S.-T., Im, W., Ban, J.-J., Lee, M., Jung, K.-H., Lee, S. K., Chu, K., & Kim, M. (2017) · Journal of Movement Disorders · doi:10.14802/jmd.16054 · Cited by 164
Synaptic dysfunction in Huntington's disease: a new perspective
Smith, R., Brundin, P., & Li, J.-Y. (2005) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-005-5084-5 · Cited by 166
Huntingtin-deficient zebrafish exhibit defects in iron utilization and development
Lumsden, A. L., Henshall, T. L., Dayan, S., Lardelli, M. T., & Richards, R. I. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm138 · Cited by 156
The Role of the Immune System in Huntington’s Disease
Ellrichmann, G., Reick, C., Saft, C., & Linker, R. A. (2013) · Clinical and Developmental Immunology · doi:10.1155/2013/541259 · Cited by 155
Microglial activation in the pathogenesis of Huntington's disease
Yang, H.-M., Yang, S., Huang, S.-S., Tang, B.-S., & Guo, J.-F. (2017) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2017.00193 · Cited by 151
A molecular pathway of neurodegeneration linking α-synuclein to ApoE and Aβ peptides
Gallardo, G., Schlüter, O. M., & Südhof, T. C. (2008) · Nature Neuroscience · doi:10.1038/nn2058 · Cited by 145
Björkqvist, M., Petersén, Å., Bacos, K., Isaacs, J., Norlén, P., Gil, J., Popovic, N., Sundler, F., Bates, G. P., Tabrizi, S. J., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl094 · Cited by 138
Self-citationQuinti, L., Dayalan Naidu, S., Träger, U., Chen, X., Kegel-Gleason, K., Llères, D., Connolly, C., Chopra, V., Low, C., Moniot, S., et al. (2017) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1614943114 · Cited by 140
Riguet, N., Mahul-Mellier, A.-L., Maharjan, N., Burtscher, J., Croisier, M., Knott, G., Hastings, J., Patin, A., Reiterer, V., Farhan, H., et al. (2021) · Nature Communications · doi:10.1038/s41467-021-26684-z · Cited by 118
Hathorn, T., Snyder-Keller, A., & Messer, A. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.08.017 · Cited by 123
Neuroinflammation in Huntington’s Disease: A Starring Role for Astrocyte and Microglia
Saba, J., Couselo, F. L., Bruno, J., Carniglia, L., Durand, D., Lasaga, M., & Caruso, C. (2022) · Current Neuropharmacology · doi:10.2174/1570159x19666211201094608 · Cited by 117
Mazarakis, N. K., Cybulska-Klosowicz, A., Grote, H., Pang, T., Van Dellen, A., Kossut, M., Blakemore, C., & Hannan, A. J. (2005) · The Journal of Neuroscience · doi:10.1523/jneurosci.4320-04.2005 · Cited by 115
Progressive neurodegeneration in C. elegans model of tauopathy
Miyasaka, T., Ding, Z., Gengyo-Ando, K., Oue, M., Yamaguchi, H., Mitani, S., & Ihara, Y. (2005) · Neurobiology of Disease · doi:10.1016/j.nbd.2005.03.017 · Cited by 115
Lipoic acid improves survival in transgenic mouse models of Huntington's disease
Andreassen, O. A., Ferrante, R. J., Dedeoglu, A., & Beal, M. F. (2001) · Neuroreport · doi:10.1097/00001756-200110290-00044 · Cited by 115
IRS2 increases mitochondrial dysfunction and oxidative stress in a mouse model of Huntington disease
Sadagurski, M., Cheng, Z., Rozzo, A., Palazzolo, I., Kelley, G. R., Dong, X., Krainc, D., & White, M. F. (2011) · Journal of Clinical Investigation · doi:10.1172/jci46305 · Cited by 107
Astrocyte–neuron interplay in maladaptive plasticity.
Papa, M., De Luca, C., Petta, F., Alberghina, L., & Cirillo, G. (2014) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2014.01.010 · Cited by 104
de Lecea, L., & Sutcliffe, J. G. (2005) · The FEBS Journal · doi:10.1111/j.1742-4658.2005.04981.x · Cited by 105
Murmu, R. P., Li, W., Holtmaat, A., & Li, J.-Y. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.5284-12.2013 · Cited by 95
“This suggests that early deficits in cognition in HD are likely caused by synaptic dysfunction rather than as a consequence of neuronal cell death (Marder et al., 2000; Milnerwood and Raymond, 2007; Verny et al., 2007; Schippling et al., 2009; Orth et al., 2010).”
BackgroundLuthi-Carter, R., Apostol, B. L., Dunah, A. W., DeJohn, M. M., Farrell, L. A., Bates, G. P., Young, A. B., Standaert, D. G., Thompson, L. M., & Cha, J.-H. J. (2003) · Neurobiology of Disease · doi:10.1016/j.nbd.2003.08.024 · Cited by 104
Self-citationIncreased intestinal permeability and gut dysbiosis in the R6/2 mouse model of Huntington’s disease
Stan, T. L., Soylu-Kucharz, R., Burleigh, S., Prykhodko, O., Cao, L., Franke, N., Sjögren, M., Haikal, C., Hållenius, F., & Björkqvist, M. (2020) · Scientific Reports · doi:10.1038/s41598-020-75229-9 · Cited by 101
Aberrant astrocytes impair vascular reactivity in Huntington disease
Hsiao, H., Chen, Y., Huang, C., Chen, C., Hsu, Y., Chen, H., Chiu, F., Kuo, H., Chang, C., & Chern, Y. (2015) · Annals of Neurology · doi:10.1002/ana.24428 · Cited by 99
Beyond muscles: The untapped potential of creatine
Riesberg, L. A., Weed, S. A., McDonald, T. L., Eckerson, J. M., & Drescher, K. M. (2016) · International Immunopharmacology · doi:10.1016/j.intimp.2015.12.034 · Cited by 95
Fox, J. H., Connor, T., Chopra, V., Dorsey, K., Kama, J. A., Bleckmann, D., Betschart, C., Hoyer, D., Frentzel, S., DiFiglia, M., et al. (2010) · Molecular Neurodegeneration · doi:10.1186/1750-1326-5-26 · Cited by 94
“These mice express the exon-1 encoded fragment of mutant huntingtin under the control of the huntingtin promoter which results in protein expression in brain and skeletal muscle [20].”
BackgroundThe microbiota–microglia axis in central nervous system disorders
Mossad, O., & Erny, D. (2020) · Brain Pathology · doi:10.1111/bpa.12908 · Cited by 98
Ghose, J., Sinha, M., Das, E., Jana, N. R., & Bhattacharyya, N. P. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023837 · Cited by 98
Chiang, M.-C., Chen, H.-M., Lee, Y.-H., Chang, H.-H., Wu, Y.-C., Soong, B.-W., Chen, C.-M., Wu, Y.-R., Liu, C.-S., Niu, D.-M., et al. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddl481 · Cited by 95
Tauroursodeoxycholic acid improves motor symptoms in a mouse model of Parkinson's disease
Rosa, A. I., Duarte-Silva, S., Silva-Fernandes, A., Nunes, M. J., Carvalho, A. N., Rodrigues, E., Gama, M. J., Rodrigues, C. M. P., Maciel, P., & Castro-Caldas, M. (2018) · Molecular Neurobiology · doi:10.1007/s12035-018-1062-4 · Cited by 94
Ochaba, J., Monteys, A. M., O’Rourke, J. G., Reidling, J. C., Steffan, J. S., Davidson, B. L., & Thompson, L. M. (2016) · Neuron · doi:10.1016/j.neuron.2016.03.016 · Cited by 94
Pallier, P. N., & Morton, A. J. (2009) · Brain Research · doi:10.1016/j.brainres.2009.03.072 · Cited by 86
Barron, J. C., Hurley, E. P., & Parsons, M. P. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.689332 · Cited by 85
Lim, R. G., Al-Dalahmah, O., Wu, J., Gold, M. P., Reidling, J. C., Tang, G., Adam, M., Dansu, D. K., Park, H.-J., Casaccia, P., et al. (2022) · Nature Communications · doi:10.1038/s41467-022-35388-x · Cited by 84
Dendritic spine loss and neurodegeneration is rescued by Rab11 in models of Huntington's disease
Richards, P., Didszun, C., Campesan, S., Simpson, A., Horley, B., Young, K. W., Glynn, P., Cain, K., Kyriacou, C. P., Giorgini, F., et al. (2011) · Cell Death & Differentiation · doi:10.1038/cdd.2010.127 · Cited by 82
Neuroinflammation in Huntington’s disease: From animal models to clinical therapeutics
Jia, Q., Li, S., Li, X.-J., & Yin, P. (2022) · Frontiers in Immunology · doi:10.3389/fimmu.2022.1088124 · Cited by 70
Urbanek, A., Popovic, M., Morató, A., Estaña, A., Elena-Real, C. A., Mier, P., Fournet, A., Allemand, F., Delbecq, S., Andrade-Navarro, M. A., et al. (2020) · Structure · doi:10.1016/j.str.2020.04.008 · Cited by 66
Kurosawa, M., Matsumoto, G., Kino, Y., Okuno, M., Kurosawa-Yamada, M., Washizu, C., Taniguchi, H., Nakaso, K., Yanagawa, T., Warabi, E., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu522 · Cited by 63
Tau hyperphosphorylation and deregulation of calcineurin in mouse models of Huntington’s disease
Gratuze, M., Noël, A., Julien, C., Cisbani, G., Milot-Rousseau, P., Morin, F., Dickler, M., Goupil, C., Bezeau, F., Poitras, I., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu456 · Cited by 65
Potential biomarkers to follow the progression and treatment response of Huntington’s disease
Disatnik, M.-H., Joshi, A. U., Saw, N. L., Shamloo, M., Leavitt, B. R., Qi, X., & Mochly-Rosen, D. (2016) · Journal of Experimental Medicine · doi:10.1084/jem.20160776 · Cited by 58
Metadata
- Authors
- Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., & Bates, G. P.
- Affiliations
- Guy's Hospital (GB)
- University College London (GB)
- St Thomas' Hospital (GB)
- John Radcliffe Hospital (GB)
- Centre National de la Recherche Scientifique (FR)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Bates, Gillian P
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1996-11
- Volume
- 87
- Issue
- 3
- Pages
- 493-506
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2062682951
- Cited by
- 3,073
- References
- 31
- Citations by year
- 2026: 52 · 2025: 59 · 2024: 76 · 2023: 77 · 2022: 92 · 2021: 124 · 2020: 92 · 2019: 108 · 2018: 132 · 2017: 109 · 2016: 112 · 2015: 121 · 2014: 144 · 2013: 124 · 2012: 149
- FWCI
- 27.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- Huntington's disease, CAG repeat expansion, polyglutamine, exon 1, transgenic mice, neurodegeneration, choreiform movements, stereotyped movements, tremor, epileptic seizures, animal models
- MeSH terms
- Huntingtin Protein, Animals, Brain, Disease Models, Animal, Exons, Female, Humans, Huntington Disease, Male, Mice, Neurologic Mutants, Mice, Transgenic, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Spinal Cord, Trinucleotide Repeats, Transgenes, Mice
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