Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice
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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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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.
“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
The R6/2 mouse line is a short-lived, rapidly progressing model of Huntington's disease that displays motor and behavioural deficits beginning around 7 weeks of age and progressing until early death at 11-13 weeks.
“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
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
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 · see citing works
Neuropathological Classification of Huntingtonʼs Disease
Vonsattel, J., Myers, R. H., STEVENS, T. J., Ferrante, R. J., Bird, E. D., & Richardson, E. P. (1985) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198511000-00003 · Cited by 2,598 · see citing works
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 · see citing works
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× · see citing works
“…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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Trottier, Y., Lutz, Y., Stévanin, G., Imbert, G., Devys, D., Cancel‐Tassin, G., Saudou, F., Weber, C., David, G., Tora, L., et al. (1995) · Nature · doi:10.1038/378403a0 · Cited by 654 · see citing works
Self-citationA huntingtin-associated protein enriched in brain with implications for pathology
Li, X., Li, S.-H., Sharp, A. H., Nucifora, F. C., Schilling, G., Lanahan, A. A., Worley, P. F., Snyder, S. H., & Ross, C. A. (1995) · Nature · doi:10.1038/378398a0 · Cited by 605 · see citing works
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
Burright, E. N., Clark, H. B., Servadio, A., Matilla‐Dueñas, A., Feddersen, R. M., Yunis, W. S., Duvick, L. A., Zoghbi, H. Y., & Orr, H. T. (1995) · Cell · doi:10.1016/0092-8674(95)90273-2 · Cited by 596 · see citing works
Atlas of the Mouse Brain and Spinal Cord
Sidman, R. L., Angevine, J. B., & Pierce, E. T. (1971) · Cited by 578 · see citing works
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
Ikeda, H. O., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S., & Kakizuka, A. (1996) · Nature Genetics · doi:10.1038/ng0696-196 · Cited by 545 · see citing works
ATLAS OF THE MOUSE BRAIN AND SPINAL CORD
Strich, S. J. (1972) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.35.3.422-b · Cited by 538 · see citing works
Durr, A., Stevanin, G., Cancel, G., Duyckaerts, C., Abbas, N., Didierjean, O., Chneiweiss, H., Benomar, A., Lyon-Caen, O., Julien, J., et al. (1996) · Annals of Neurology · doi:10.1002/ana.410390411 · Cited by 455 · see citing works
Trottier, Y., Devys, D., Imbert, G., Saudou, F., Gourfinkel‐An, I., Lutz, Y., Weber, C., Agid, Y., Hirsch, É. C., & Mandel, J. (1995) · Nature Genetics · doi:10.1038/ng0595-104 · Cited by 452 · see citing works
Self-citationde la Monte, S. M., Vonsattel, J., & Richardson, E. P. (1988) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-198809000-00003 · Cited by 434 · see citing works
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
Strong, T. V., Tagle, D. A., Valdes, J. M., Elmer, L. W., Boehm, K., Swaroop, M., Kaatz, K. W., Collins, F. S., & Albin, R. L. (1993) · Nature Genetics · doi:10.1038/ng1193-259 · Cited by 417 · see citing works
Monaco, A. P., Bertelson, C. J., Middlesworth, W., Colletti, C.-A., Aldridge, J. F., Fischbeck, K. H., Bartlett, R. J., Pericak‐Vance, M. A., Roses, A. D., & Kunkel, L. M. (1985) · Nature · doi:10.1038/316842a0 · Cited by 396 · see citing works
Early Loss of Neostriatal Striosome Neurons in Huntingtonʼs Disease
Hedreen, J. C., & Folstein, S. E. (1995) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199501000-00013 · Cited by 327 · see citing works
Servadio, A., Koshy, B., Armstrong, D. L., Antalffy, B. A., Orr, H. T., & Zoghbi, H. Y. (1995) · Nature Genetics · doi:10.1038/ng0595-94 · Cited by 298 · see citing works
Decreased Neuronal and Increased Oligodendroglial Densities in Huntington's Disease Caudate Nucleus
Myers, R. H., Vonsattel, J. P., Paskevich, P. A., Kiely, D. K., Stevens, T. J., Cupples, L. A., Richardson, E. P., & Bird, E. D. (1991) · Journal of Neuropathology & Experimental Neurology · doi:10.1097/00005072-199111000-00005 · Cited by 239 · see citing works
Clinical and neuropathologic assessment of severity in Huntington's disease
Myers, R. H., Vonsattel, J. P., Stevens, T. J., Cupples, L. A., Richardson, E. P., Martin, J. B., & Bird, E. D. (1988) · Neurology · doi:10.1212/wnl.38.3.341 · Cited by 217 · see citing works
Telenius, H., Kremer, H., Thellmann, J., Andrew, S. E., Almqvist, E. W., Anvret, M., Greenberg, C. R., Greenberg, J., Lucotte, G., Squltierl, F., et al. (1993) · Human Molecular Genetics · doi:10.1093/hmg/2.10.1535 · Cited by 203 · see citing works
BODY WEIGHT AND DIETARY FACTORS IN HUNTINGTON'S DISEASE PATIENTS COMPARED WITH MATCHED CONTROLS
Sanberg, P. R., Fibiger, H. C., & Mark, R. F. (1981) · Medical Journal of Australia · doi:10.5694/j.1326-5377.1981.tb135681.x · Cited by 161 · see citing works
Abnormal gene product identified in hereditary dentatorubral–pallidoluysian atrophy (DRPLA) brain
Yazawa, I., Nukina, N., Hashida, H., Goto, J., Yamada, M., & Kanazawa, I. (1995) · Nature Genetics · doi:10.1038/ng0595-99 · Cited by 159 · see citing works
Hereditary dentatorubral‐pallidoluysian atrophy
Takahashi, H., Ohama, E., Naito, H., et al. (1988) · Neurology · doi:10.1212/wnl.38.7.1065 · Cited by 121 · see citing works
Jou, Y., & Myers, R. (1995) · Human Molecular Genetics · doi:10.1093/hmg/4.3.465 · Cited by 62 · see citing works
Vesico‐urethral Function in Huntington's Chorea
Wheeler, J. S., Sax, D. S., Krane, R. J., et al. (1985) · British Journal of Urology · doi:10.1111/j.1464-410x.1985.tb08987.x · Cited by 22 · see citing works
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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Unfolding the role of protein misfolding in neurodegenerative diseases
Soto, C. (2003) · Nature Reviews Neuroscience · doi:10.1038/nrn1007 · Cited by 1,506 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Neurogenesis and Exercise: Past and Future Directions
van Praag, H. (2008) · NeuroMolecular Medicine · doi:10.1007/s12017-008-8028-z · Cited by 645 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Self-citationPich, 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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Alexander, A. G., Marfil, V., & Li, C. (2014) · Frontiers in Genetics · doi:10.3389/fgene.2014.00279 · Cited by 310 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
The biosynthesis, signaling, and neurological functions of bile acids
Kiriyama, Y., & Nochi, H. (2019) · Biomolecules · doi:10.3390/biom9060232 · Cited by 204 · see citing works
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 · see citing works
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 · see citing works
Nguyen, T., Hamby, A., & Massa, S. M. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0502177102 · Cited by 194 · see citing works
Vercruysse, P., Vieau, D., Blum, D., Petersén, Å., & Dupuis, L. (2018) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2018.00002 · Cited by 172 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Hathorn, T., Snyder-Keller, A., & Messer, A. (2011) · Neurobiology of Disease · doi:10.1016/j.nbd.2010.08.017 · Cited by 123 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
de Lecea, L., & Sutcliffe, J. G. (2005) · The FEBS Journal · doi:10.1111/j.1742-4658.2005.04981.x · Cited by 105 · see citing works
Murmu, R. P., Li, W., Holtmaat, A., & Li, J.-Y. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.5284-12.2013 · Cited by 95 · see citing works
“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 · see citing works
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 · see citing works
Aberrant astrocytes impair vascular reactivity in <scp>H</scp>untington 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 · see citing works
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 · see citing works
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 · see citing works
The microbiota–microglia axis in central nervous system disorders
Mossad, O., & Erny, D. (2020) · Brain Pathology · doi:10.1111/bpa.12908 · Cited by 98 · see citing works
Ghose, J., Sinha, M., Das, E., Jana, N. R., & Bhattacharyya, N. P. (2011) · PLoS ONE · doi:10.1371/journal.pone.0023837 · Cited by 98 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Pallier, P. N., & Morton, A. J. (2009) · Brain Research · doi:10.1016/j.brainres.2009.03.072 · Cited by 86 · see citing works
Barron, J. C., Hurley, E. P., & Parsons, M. P. (2021) · Frontiers in Cellular Neuroscience · doi:10.3389/fncel.2021.689332 · Cited by 85 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
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 · see citing works
Axonopathy in Huntington's disease
Li, J.-Y., & Conforti, L. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2012.08.010 · Cited by 55 · see citing works
Effects of chronic stress on the onset and progression of Huntington’s disease in transgenic mice
Mo, C., Renoir, T., & Hannan, A. J. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.07.008 · Cited by 46 · see citing works
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington’s disease mice
Karam, A., Tebbe, L., Weber, C., Messaddeq, N., Morlé, L., Kessler, P., Wolfrum, U., & Trottier, Y. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.05.008 · Cited by 38 · see citing works
Self-citationAggregation of expanded huntingtin in the brains of patients with Huntington disease
Hoffner, G., Soues, S., & Djian, P. (2007) · Prion · doi:10.4161/pri.1.1.4056 · Cited by 39 · see citing works
Chemical modulation of Kv7 potassium channels
Borgini, M., Mondal, P., Liu, R., & Wipf, P. (2021) · RSC Medicinal Chemistry · doi:10.1039/d0md00328j · Cited by 37 · see citing works
Buck, E., Bayer, H., Lindenberg, K. S., Hanselmann, J., Pasquarelli, N., Ludolph, A. C., Weydt, P., & Witting, A. (2017) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2017.00156 · Cited by 36 · see citing works
Goodman, A. O. G., & Barker, R. A. (2011) · PLoS Currents · doi:10.1371/currents.rrn1214 · Cited by 28 · see citing works
Duarte, A. I., Sjögren, M., Santos, M. S., Oliveira, C. R., Moreira, P. I., & Björkqvist, M. (2018) · Scientific Reports · doi:10.1038/s41598-018-27121-w · Cited by 25 · see citing works
- 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 › 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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