Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies

A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes

MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366

Molecular chaperones in protein folding and proteostasis

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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.

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Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain

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Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease

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Impairment of the Ubiquitin-Proteasome System by Protein Aggregation

Bence, N. F., Sampat, R. M., & Kopito, R. R. (2001) · Science · doi:10.1126/science.292.5521.1552 · Cited by 2,187

Formation of Neuronal Intranuclear Inclusions Underlies the Neurological Dysfunction in Mice Transgenic for the HD Mutation

Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L., & Bates, G. P. (1997) · Cell · doi:10.1016/s0092-8674(00)80513-9 · Cited by 2,181

Nanotubular Highways for Intercellular Organelle Transport

Rustom, A., Saffrich, R., Markovic, I., Walther, P., & Gerdes, H.-H. (2004) · Science · doi:10.1126/science.1093133 · Cited by 2,038

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

Huntingtin Acts in the Nucleus to Induce Apoptosis but Death Does Not Correlate with the Formation of Intranuclear Inclusions

Saudou, F., Finkbeiner, S., Devys, D., & Greenberg, M. E. (1998) · Cell · doi:10.1016/s0092-8674(00)81782-1 · Cited by 1,595

Replication of the neurochemical characteristics of Huntington's disease by quinolinic acid

Beal, M. F., Kowall, N. W., Ellison, D. W., Mazurek, M. F., Swartz, K. J., & Martin, J. B. (1986) · Nature · doi:10.1038/321168a0 · Cited by 1,286

Lesion of striatal neurons with kainic acid provides a model for Huntington's chorea

COYLE, J. T., & SCHWARCZ, R. (1976) · Nature · doi:10.1038/263244a0 · Cited by 1,248

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 · cited 1×

Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules

Gauthier, L. R., Charrin, B. C., Borrell-Pagès, M., Dompierre, J. P., Rangone, H., Cordelières, F. P., De Mey, J., MacDonald, M. E., Leßmann, V., Humbert, S., et al. (2004) · Cell · doi:10.1016/j.cell.2004.06.018 · Cited by 1,178

The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington's disease

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Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

Zuccato, C., Ciammola, A., Rigamonti, D., Leavitt, B. R., Goffredo, D., Conti, L., MacDonald, M. E., Friedlander, R. M., Silani, V., Hayden, M. R., et al. (2001) · Science · doi:10.1126/science.1059581 · Cited by 1,123

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy

Ravikumar, B. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.9.1107 · Cited by 1,111

Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity

Nucifora, F. C., Sasaki, M., Peters, M. F., Huang, H., Cooper, J. K., Yamada, M., Takahashi, H., Tsuji, S., Troncoso, J., Dawson, V. L., et al. (2001) · Science · doi:10.1126/science.1056784 · Cited by 1,094

The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription

Steffan, J. S., Kazantsev, A., Spasic-Boskovic, O., Greenwald, M., Zhu, Y.-Z., Gohler, H., Wanker, E. E., Bates, G. P., Housman, D. E., & Thompson, L. M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.100110097 · Cited by 1,062

Glutamine repeats as polar zippers: their possible role in inherited neurodegenerative diseases.

Perutz, M. F., Johnson, T., Suzuki, M., & Finch, J. T. (1994) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.91.12.5355 · Cited by 1,062

Minocycline inhibits caspase-1 and caspase-3 expression and delays mortality in a transgenic mouse model of Huntington disease

Chen, M., Ona, V. O., Li, M., Ferrante, R. J., Fink, K. B., Zhu, S., Bian, J., Guo, L., Farrell, L. A., Hersch, S. M., et al. (2000) · Nature Medicine · doi:10.1038/77528 · Cited by 1,051

Regional and progressive thinning of the cortical ribbon in Huntington’s disease

Rosas, H. D., Liu, A. K., Hersch, S., Glessner, M., Ferrante, R. J., Salat, D. H., van der Kouwe, A., Jenkins, B. G., Dale, A. M., & Fischl, B. (2002) · Neurology · doi:10.1212/wnl.58.5.695 · Cited by 1,044

Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines

Panov, A. V., Gutekunst, C.-A., Leavitt, B. R., Hayden, M. R., Burke, J. R., Strittmatter, W. J., & Greenamyre, J. T. (2002) · Nature Neuroscience · doi:10.1038/nn884 · Cited by 1,030

Transcriptional Repression of PGC-1α by Mutant Huntingtin Leads to Mitochondrial Dysfunction and Neurodegeneration

Cui, L., Jeong, H., Borovecki, F., Parkhurst, C. N., Tanese, N., & Krainc, D. (2006) · Cell · doi:10.1016/j.cell.2006.09.015 · Cited by 1,012

Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes

Zuccato, C., Tartari, M., Crotti, A., Goffredo, D., Valenza, M., Conti, L., Cataudella, T., Leavitt, B. R., Hayden, M. R., Timmusk, T., et al. (2003) · Nature Genetics · doi:10.1038/ng1219 · Cited by 979

Ataxin-1 Nuclear Localization and Aggregation

Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H., Hersch, S. M., Clark, H. B., Zoghbi, H. Y., & Orr, H. T. (1998) · Cell · doi:10.1016/s0092-8674(00)81781-x · Cited by 956

Nuclear and Neuropil Aggregates in Huntington’s Disease: Relationship to Neuropathology

Gutekunst, C.-A., Li, S.-H., Yi, H., Mulroy, J. S., Kuemmerle, S., Jones, R., Rye, D., Ferrante, R. J., Hersch, S. M., & Li, X.-J. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-07-02522.1999 · Cited by 914

Cargo recognition failure is responsible for inefficient autophagy in Huntington’s disease

Martinez-Vicente, M., Talloczy, Z., Wong, E., Tang, G., Koga, H., Kaushik, S., de Vries, R., Arias, E., Harris, S., Sulzer, D., et al. (2010) · Nature Neuroscience · doi:10.1038/nn.2528 · Cited by 885

Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes

Nasir, J., Floresco, S. B., O'Kusky, J. R., Diewert, V. M., Richman, J. M., Zeisler, J., Borowski, A., Marth, J. D., Phillips, A. G., & Hayden, M. R. (1995) · Cell · doi:10.1016/0092-8674(95)90542-1 · Cited by 872

Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington's disease in the TRACK-HD study: analysis of 36-month observational data

Tabrizi, S. J., Scahill, R. I., Owen, G., Durr, A., Leavitt, B. R., Roos, R. A., Borowsky, B., Landwehrmeyer, B., Frost, C., Johnson, H., et al. (2013) · The Lancet Neurology · doi:10.1016/s1474-4422(13)70088-7 · Cited by 846

Suberoylanilide hydroxamic acid, a histone deacetylase inhibitor, ameliorates motor deficits in a mouse model of Huntington's disease

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

Differential loss of striatal projection neurons in Huntington disease.

Reiner, A., Albin, R. L., Anderson, K. D., D'Amato, C. J., Penney, J. B., & Young, A. B. (1988) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.85.15.5733 · Cited by 839

Duplication of biochemical changes of Huntington's chorea by intrastriatal injections of glutamic and kainic acids

MCGEER, E. G., & MCGEER, P. L. (1976) · Nature · doi:10.1038/263517a0 · Cited by 834

Suppression of polyglutamine-mediated neurodegeneration in Drosophila by the molecular chaperone HSP70

Warrick, J. M., Chan, H. Y. E., Gray-Board, G. L., Chai, Y., Paulson, H. L., & Bonini, N. M. (1999) · Nature Genetics · doi:10.1038/70532 · Cited by 830

α-Synuclein impairs macroautophagy: implications for Parkinson’s disease

Winslow, A. R., Chen, C.-W., Corrochano, S., Acevedo-Arozena, A., Gordon, D. E., Peden, A. A., Lichtenberg, M., Menzies, F. M., Ravikumar, B., Imarisio, S., et al. (2010) · Journal of Cell Biology · doi:10.1083/jcb.201003122 · Cited by 825 · cited 1×

Role of Stress Granules and RNA-Binding Proteins in Neurodegeneration: A Mini-Review

Vanderweyde, T., Youmans, K., Liu-Yesucevitz, L., & Wolozin, B. (2013) · Gerontology · doi:10.1159/000354170 · Cited by 805

Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue

Zeitlin, S., Liu, J.-P., Chapman, D. L., Papaioannou, V. E., & Efstratiadis, A. (1995) · Nature Genetics · doi:10.1038/ng1095-155 · Cited by 802

Mitochondrial fission in apoptosis

Youle, R. J., & Karbowski, M. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1697 · Cited by 777

Sustained Therapeutic Reversal of Huntington's Disease by Transient Repression of Huntingtin Synthesis

Kordasiewicz, H. B., Stanek, L. M., Wancewicz, E. V., Mazur, C., McAlonis, M. M., Pytel, K. A., Artates, J. W., Weiss, A., Cheng, S. H., Shihabuddin, L. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.05.009 · Cited by 770

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 · cited 4×

Chaperone suppression of aggregation and altered subcellular proteasome localization imply protein misfolding in SCA1

Cummings, C. J., Mancini, M. A., Antalffy, B., DeFranco, D. B., Orr, H. T., & Zoghbi, H. Y. (1998) · Nature Genetics · doi:10.1038/502 · Cited by 744

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

Histone Deacetylase Inhibition by Sodium Butyrate Chemotherapy Ameliorates the Neurodegenerative Phenotype in Huntington's Disease Mice

Ferrante, 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

The Bifunctional microRNA miR-9/miR-9* Regulates REST and CoREST and Is Downregulated in Huntington's Disease

Packer, A. N., Xing, Y., Harper, S. Q., Jones, L., & Davidson, B. L. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.2390-08.2008 · Cited by 679

Cleavage at the Caspase-6 Site Is Required for Neuronal Dysfunction and Degeneration Due to Mutant Huntingtin

Graham, R. K., Deng, Y., Slow, E. J., Haigh, B., Bissada, N., Lu, G., Pearson, J., Shehadeh, J., Bertram, L., Murphy, Z., et al. (2006) · Cell · doi:10.1016/j.cell.2006.04.026 · Cited by 651

A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington's disease

Björkqvist, M., Wild, E. J., Thiele, J., Silvestroni, A., Andre, R., Lahiri, N., Raibon, E., Lee, R. V., Benn, C. L., Soulet, D., et al. (2008) · The Journal of Experimental Medicine · doi:10.1084/jem.20080178 · Cited by 650

Disruption of Axonal Transport by Loss of Huntingtin or Expression of Pathogenic PolyQ Proteins in Drosophila

Gunawardena, S., Her, L.-S., Brusch, R. G., Laymon, R. A., Niesman, I. R., Gordesky-Gold, B., Sintasath, L., Bonini, N. M., & Goldstein, L. S. B. (2003) · Neuron · doi:10.1016/s0896-6273(03)00594-4 · Cited by 646

Cell-to-cell transmission of pathogenic proteins in neurodegenerative diseases

Guo, J. L., & Lee, V. M. Y. (2014) · Nature Medicine · doi:10.1038/nm.3457 · Cited by 641

Accumulation of Mutant Huntingtin Fragments in Aggresome-like Inclusion Bodies as a Result of Insufficient Protein Degradation

Waelter, S., Boeddrich, A., Lurz, R., Scherzinger, E., Lueder, G., Lehrach, H., & Wanker, E. E. (2001) · Molecular Biology of the Cell · doi:10.1091/mbc.12.5.1393 · Cited by 631

Prions hijack tunnelling nanotubes for intercellular spread

Gousset, K., Schiff, E., Langevin, C., Marijanovic, Z., Caputo, A., Browman, D. T., Chenouard, N., de Chaumont, F., Martino, A., Enninga, J., et al. (2009) · Nature Cell Biology · doi:10.1038/ncb1841 · Cited by 615

Increased Sensitivity to N-Methyl-D-Aspartate Receptor-Mediated Excitotoxicity in a Mouse Model of Huntington's Disease

Zeron, M. M., Hansson, O., Chen, N., Wellington, C. L., Leavitt, B. R., Brundin, P., Hayden, M. R., & Raymond, L. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00615-3 · Cited by 595

Astrocyte Kir4.1 ion channel deficits contribute to neuronal dysfunction in Huntington's disease model mice

Tong, X., Ao, Y., Faas, G. C., Nwaobi, S. E., Xu, J., Haustein, M. D., Anderson, M. A., Mody, I., Olsen, M. L., Sofroniew, M. V., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3691 · Cited by 592

Neurological abnormalities in a knock-in mouse model of Huntington's disease

Lin, C.-H. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.2.137 · Cited by 592

Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice

Dragatsis, I., Levine, M. S., & Zeitlin, S. (2000) · Nature Genetics · doi:10.1038/81593 · Cited by 576

Caspase Cleavage of Gene Products Associated with Triplet Expansion Disorders Generates Truncated Fragments Containing the Polyglutamine Tract

Wellington, C. L., Ellerby, L. M., Hackam, A. S., Margolis, R. L., Trifiro, M. A., Singaraja, R., McCutcheon, K., Salvesen, G. S., Propp, S. S., Bromm, M., et al. (1998) · Journal of Biological Chemistry · doi:10.1074/jbc.273.15.9158 · Cited by 562

Mutant huntingtin binds the mitochondrial fission GTPase dynamin-related protein-1 and increases its enzymatic activity

Song, W., Chen, J., Petrilli, A., Liot, G., Klinglmayr, E., Zhou, Y., Poquiz, P., Tjong, J., Pouladi, M. A., Hayden, M. R., et al. (2011) · Nature Medicine · doi:10.1038/nm.2313 · Cited by 555

Increased apoptosis of Huntington disease lymphoblasts associated with repeat length-dependent mitochondrial depolarization

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

Aggregation of huntingtin in yeast varies with the length of the polyglutamine expansion and the expression of chaperone proteins

Krobitsch, S., & Lindquist, S. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.4.1589 · Cited by 542

Early and Progressive Accumulation of Reactive Microglia in the Huntington Disease Brain

Sapp, E., Kegel, K. B., Aronin, N., Hashikawa, T., Uchiyama, Y., Tohyama, K., Bhide, P. G., Vonsattel, J. P., & Difiglia, M. (2001) · Journal of Neuropathology & Experimental Neurology · doi:10.1093/jnen/60.2.161 · Cited by 540

Huntingtin Expression Stimulates Endosomal–Lysosomal Activity, Endosome Tubulation, and Autophagy

Kegel, K. B., Kim, M., Sapp, E., McIntyre, C., Castaño, J. G., Aronin, N., & DiFiglia, M. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-19-07268.2000 · Cited by 533

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

Sathasivam, K., Neueder, A., Gipson, T. A., Landles, C., Benjamin, A. C., Bondulich, M. K., Smith, D. L., Faull, R. L. M., Roos, R. A. C., Howland, D., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221891110 · Cited by 528

Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats.

Rubinsztein, D. C., Leggo, J., Coles, R., Almqvist, E., Biancalana, V., Cassiman, J. J., Chotai, K. A., Connarty, M., Crauford, D., Curtis, A., et al. (1996) · PubMed Central · Cited by 525

Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro

Trushina, E., Dyer, R. B., Badger, J. D., Ure, D., Eide, L., Tran, D. D., Vrieze, B. T., Legendre-Guillemin, V., McPherson, P. S., Mandavilli, B. S., et al. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.18.8195-8209.2004 · Cited by 520

Early Increase in Extrasynaptic NMDA Receptor Signaling and Expression Contributes to Phenotype Onset in Huntington's Disease Mice

Milnerwood, A. J., Gladding, C. M., Pouladi, M. A., Kaufman, A. M., Hines, R. M., Boyd, J. D., Ko, R. W. Y., Vasuta, O. C., Graham, R. K., Hayden, M. R., et al. (2010) · Neuron · doi:10.1016/j.neuron.2010.01.008 · Cited by 517

Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release

Choo, Y. S. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh162 · Cited by 515 · cited 2×

Kynurenine 3-Monooxygenase Inhibition in Blood Ameliorates Neurodegeneration

Zwilling, D., Huang, S.-Y., Sathyasaikumar, K. V., Notarangelo, F. M., Guidetti, P., Wu, H.-Q., Lee, J., Truong, J., Andrews-Zwilling, Y., Hsieh, E. W., et al. (2011) · Cell · doi:10.1016/j.cell.2011.05.020 · Cited by 515

Global Impairment of the Ubiquitin-Proteasome System by Nuclear or Cytoplasmic Protein Aggregates Precedes Inclusion Body Formation

Bennett, E. J., Bence, N. F., Jayakumar, R., & Kopito, R. R. (2005) · Molecular Cell · doi:10.1016/j.molcel.2004.12.021 · Cited by 509

Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice

Cummings, C. J., Reinstein, E., Sun, Y., Antalffy, B., Jiang, Y.-H., Ciechanover, A., Orr, H. T., Beaudet, A. L., & Zoghbi, H. Y. (1999) · Neuron · doi:10.1016/s0896-6273(00)81035-1 · Cited by 501

Chronic quinolinic acid lesions in rats closely resemble Huntington's disease

Beal, M., Ferrante, R., Swartz, K., & Kowall, N. (1991) · The Journal of Neuroscience · doi:10.1523/jneurosci.11-06-01649.1991 · Cited by 499

Length of huntingtin and its polyglutamine tract influences localization and frequency of intracellular aggregates

Martindale, D., Hackam, A., Wieczorek, A., Ellerby, L., Wellington, C., McCutcheon, K., Singaraja, R., Kazemi-Esfarjani, P., Devon, R., Kim, S. U., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-150 · Cited by 485

Expression of mutant huntingtin in glial cells contributes to neuronal excitotoxicity

Shin, J.-Y., Fang, Z.-H., Yu, Z.-X., Wang, C.-E., Li, S.-H., & Li, X.-J. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200508072 · Cited by 477

Regulation 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

Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release

Jana, N. R. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1049 · Cited by 452

The Itinerary of Autophagosomes: From Peripheral Formation to Kiss‐and‐Run Fusion with Lysosomes

Jahreiss, L., Menzies, F. M., & Rubinsztein, D. C. (2008) · Traffic · doi:10.1111/j.1600-0854.2008.00701.x · Cited by 451

Insoluble detergent-resistant aggregates form between pathological and nonpathological lengths of polyglutamine in mammalian cells

Kazantsev, A., Preisinger, E., Dranovsky, A., Goldgaber, D., & Housman, D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.20.11404 · Cited by 443

Microglial activation in presymptomatic Huntington's disease gene carriers

Tai, Y. F., Pavese, N., Gerhard, A., Tabrizi, S. J., Barker, R. A., Brooks, D. J., & Piccini, P. (2007) · Brain · doi:10.1093/brain/awm044 · Cited by 440

Balance between synaptic versus extrasynaptic NMDA receptor activity influences inclusions and neurotoxicity of mutant huntingtin

Okamoto, S.-I., Pouladi, M. A., Talantova, M., Yao, D., Xia, P., Ehrnhoefer, D. E., Zaidi, R., Clemente, A., Kaul, M., Graham, R. K., et al. (2009) · Nature Medicine · doi:10.1038/nm.2056 · Cited by 436

Intranuclear Neuronal Inclusions in Huntington's Disease and Dentatorubral and Pallidoluysian Atrophy: Correlation between the Density of Inclusions andIT15CAG Triplet Repeat Length

Becher, M. W., Kotzuk, J. A., Sharp, A. H., Davies, S. W., Bates, G. P., Price, D. L., & Ross, C. A. (1998) · Neurobiology of Disease · doi:10.1006/nbdi.1998.0168 · Cited by 433

Polyglutamine length-dependent interaction of Hsp40 and Hsp70 family chaperones with truncated N-terminal huntingtin: their role in suppression of aggregation and cellular toxicity

Jana, N. R. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.13.2009 · Cited by 432

N-Terminal Mutant Huntingtin Associates with Mitochondria and Impairs Mitochondrial Trafficking

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Eukaryotic Proteasomes Cannot Digest Polyglutamine Sequences and Release Them during Degradation of Polyglutamine-Containing Proteins

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Differential Activities of the Ubiquitin–Proteasome System in Neurons versus Glia May Account for the Preferential Accumulation of Misfolded Proteins in Neurons

Tydlacka, S., Wang, C.-E., Wang, X., Li, S., & Li, X.-J. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.4393-08.2008 · Cited by 184

Transneuronal propagation of mutant huntingtin contributes to non–cell autonomous pathology in neurons

Pecho-Vrieseling, E., Rieker, C., Fuchs, S., Bleckmann, D., Esposito, M. S., Botta, P., Goldstein, C., Bernhard, M., Galimberti, I., Müller, M., et al. (2014) · Nature Neuroscience · doi:10.1038/nn.3761 · Cited by 184

Deletion of the Huntingtin Polyglutamine Stretch Enhances Neuronal Autophagy and Longevity in Mice

Zheng, S., Clabough, E. B. D., Sarkar, S., Futter, M., Rubinsztein, D. C., & Zeitlin, S. O. (2010) · PLoS Genetics · doi:10.1371/journal.pgen.1000838 · Cited by 183

Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with β-tubulin: relevance to Huntington's disease

Hoffner, G., Kahlem, P., & Djian, P. (2002) · Journal of Cell Science · doi:10.1242/jcs.115.5.941 · Cited by 180

Huntingtin contains a highly conserved nuclear export signal

Xia, J. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg156 · Cited by 180

In Vitro Analysis of Huntingtin-Mediated Transcriptional Repression Reveals Multiple Transcription Factor Targets

Zhai, W., Jeong, H., Cui, L., Krainc, D., & Tjian, R. (2005) · Cell · doi:10.1016/j.cell.2005.10.030 · Cited by 178

Targeting H3K4 trimethylation in Huntington disease

Vashishtha, M., Ng, C. W., Yildirim, F., Gipson, T. A., Kratter, I. H., Bodai, L., Song, W., Lau, A., Labadorf, A., Vogel-Ciernia, A., et al. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1311323110 · Cited by 177

Extensive changes in DNA methylation are associated with expression of mutant huntingtin

Ng, C. W., Yildirim, F., Yap, Y. S., Dalin, S., Matthews, B. J., Velez, P. J., Labadorf, A., Housman, D. E., & Fraenkel, E. (2013) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1221292110 · Cited by 177

The predominantly HEAT-like motif structure of huntingtin and its association and coincident nuclear entry with dorsal, an NF-kB/Rel/dorsal family transcription factor

Takano, H., & Gusella, J. F. (2002) · BMC Neuroscience · doi:10.1186/1471-2202-3-15 · Cited by 177

Complex I Defect in muscle from patients with Huntington's disease

Arenas, J., Campos, Y., Ribacoba, R., Martín, M. A., Rubio, J. C., Ablanedo, P., & Cabello, A. (1998) · Annals of Neurology · doi:10.1002/ana.410430321 · Cited by 173

HDAC4 Reduction: A Novel Therapeutic Strategy to Target Cytoplasmic Huntingtin and Ameliorate Neurodegeneration

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

Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice

Guidetti, P., Bates, G. P., Graham, R. K., Hayden, M. R., Leavitt, B. R., MacDonald, M. E., Slow, E. J., Wheeler, V. C., Woodman, B., & Schwarcz, R. (2006) · Neurobiology of Disease · doi:10.1016/j.nbd.2006.02.011 · Cited by 166

Calpain Is a Major Cell Death Effector in Selective Striatal Degeneration Induced In Vivo by 3-Nitropropionate: Implications for Huntington's Disease

Bizat, N., Hermel, J.-M., Boyer, F., Jacquard, C., Créminon, C., Ouary, S., Escartin, C., Hantraye, P., Krajewski, S., & Brouillet, E. (2003) · The Journal of Neuroscience · doi:10.1523/jneurosci.23-12-05020.2003 · Cited by 164

Mutant Huntingtin in Glial Cells Exacerbates Neurological Symptoms of Huntington Disease Mice

Bradford, J., Shin, J.-Y., Roberts, M., Wang, C.-E., Sheng, G., Li, S., & Li, X.-J. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.083287 · Cited by 164

Tissue-specific proteolysis of Huntingtin (htt) in human brain: Evidence of enhanced levels of N- and C-terminal htt fragments in Huntington’s disease striatum

Mende-Mueller, L. M., Toneff, T., Hwang, S.-R., Chesselet, M.-F., & Hook, V. Y. H. (2001) · The Journal of Neuroscience · doi:10.1523/jneurosci.21-06-01830.2001 · Cited by 163

Early development of aberrant synaptic plasticity in a mouse model of Huntington's disease

Milnerwood, A. J., Cummings, D. M., Dallérac, G. M., Brown, J. Y., Vatsavayai, S. C., Hirst, M. C., Rezaie, P., & Murphy, K. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl092 · Cited by 163

Silencing Mutant Huntingtin by Adeno-Associated Virus-Mediated RNA Interference Ameliorates Disease Manifestations in the YAC128 Mouse Model of Huntington's Disease

Stanek, L. M., Sardi, S. P., Mastis, B., Richards, A. R., Treleaven, C. M., Taksir, T., Misra, K., Cheng, S. H., & Shihabuddin, L. S. (2014) · Human Gene Therapy · doi:10.1089/hum.2013.200 · Cited by 162

Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan

Suzuki, Y., Shirato, S., Taniguchi, F., Ohara, K., Nishimaki, K., & Ohta, S. (1997) · The American Journal of Human Genetics · doi:10.1086/301612 · Cited by 161

The current clinical management of Huntington's disease

Phillips, W., Shannon, K. M., & Barker, R. A. (2008) · Movement Disorders · doi:10.1002/mds.21971 · Cited by 161

Neuropsychiatry of Huntington's disease

Rosenblatt, A. (2007) · Dialogues in Clinical Neuroscience · doi:10.31887/dcns.2007.9.2/arosenblatt · Cited by 160

Huntington's disease protein contributes to RNA-mediated gene silencing through association with Argonaute and P bodies

Savas, J. N., Makusky, A., Ottosen, S., Baillat, D., Then, F., Krainc, D., Shiekhattar, R., Markey, S. P., & Tanese, N. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0800658105 · Cited by 160

Huntingtin Phosphorylation Sites Mapped by Mass Spectrometry

Schilling, B., Gafni, J., Torcassi, C., Cong, X., Row, R. H., LaFevre-Bernt, M. A., Cusack, M. P., Ratovitski, T., Hirschhorn, R. R., Ross, C. A., et al. (2006) · Journal of Biological Chemistry · doi:10.1074/jbc.m513507200 · Cited by 160

Antioxidants can inhibit basal autophagy and enhance neurodegeneration in models of polyglutamine disease

Underwood, B. R., Imarisio, S., Fleming, A., Rose, C., Krishna, G., Heard, P. L., Quick, M., Korolchuk, V. I., Renna, M., Sarkar, S., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq253 · Cited by 159

Mutant huntingtin impairs immune cell migration in Huntington disease

Kwan, W., Träger, U., Davalos, D., Chou, A., Bouchard, J. J., André, R., Miller, A., Weiss, A., Giorgini, F., Cheah, C. S., et al. (2012) · Journal of Clinical Investigation · doi:10.1172/jci64484 · Cited by 153

Six-month partial suppression of Huntingtin is well tolerated in the adult rhesus striatum

Grondin, R., Kaytor, M. D., Ai, Y., Nelson, P. T., Thakker, D. R., Heisel, J., Weatherspoon, M. R., Blum, J. L., Burright, E. N., Zhang, Z., et al. (2012) · Brain · doi:10.1093/brain/awr333 · Cited by 153

Influence of lamotrigine on progression of early Huntington disease

Kremer, B. P. H., Clark, C. M., Almqvist, E. W., Raymond, L. A., Graf, P., Jacova, C., Mezei, M., Hardy, M., Snow, B. J., Martin, W. R. W., et al. (1999) · Neurology · doi:10.1212/wnl.53.5.1000 · Cited by 147

A Small Molecule TrkB Ligand Reduces Motor Impairment and Neuropathology in R6/2 and BACHD Mouse Models of Huntington's Disease

Simmons, D. A., Belichenko, N. P., Yang, T., Condon, C., Monbureau, M., Shamloo, M., Jing, D., Massa, S. M., & Longo, F. M. (2013) · Journal of Neuroscience · doi:10.1523/jneurosci.1310-13.2013 · Cited by 145

Formation and Toxicity of Soluble Polyglutamine Oligomers in Living Cells

Lajoie, P., & Snapp, E. L. (2010) · PLoS ONE · doi:10.1371/journal.pone.0015245 · Cited by 142

Impairment of PGC-1alpha expression, neuropathology and hepatic steatosis in a transgenic mouse model of Huntington's disease following chronic energy deprivation

Chaturvedi, R. K., Calingasan, N. Y., Yang, L., Hennessey, T., Johri, A., & Beal, M. F. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq229 · Cited by 142

Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis

Ratovitski, T., Chighladze, E., Arbez, N., Boronina, T. N., Herbrich, S. M., Cole, R. N., & Ross, C. A. (2012) · Cell Cycle · doi:10.4161/cc.20423 · Cited by 141

Huntingtin Is Required for Normal Excitatory Synapse Development in Cortical and Striatal Circuits

McKinstry, S. U., Karadeniz, Y. B., Worthington, A. K., Hayrapetyan, V. Y., Ozlu, M. I., Serafin-Molina, K., Risher, W. C., Ustunkaya, T., Dragatsis, I., Zeitlin, S., et al. (2014) · Journal of Neuroscience · doi:10.1523/jneurosci.4699-13.2014 · Cited by 140

Decreased cAMP Response Element-mediated Transcription

Sugars, K. L., Brown, R. L., Cook, L. J., Swartz, J., & Rubinsztein, D. C. (2004) · Journal of Biological Chemistry · doi:10.1074/jbc.m310226200 · Cited by 139

Cannabinoid Receptor 2 Signaling in Peripheral Immune Cells Modulates Disease Onset and Severity in Mouse Models of Huntington's Disease

Bouchard, J. J., Truong, J. K., Bouchard, K. E., Dunkelberger, D. L., Desrayaud, S., Moussaoui, S. M., Tabrizi, S. J., Stella, N., & Muchowski, P. J. (2012) · Journal of Neuroscience · doi:10.1523/jneurosci.4008-12.2012 · Cited by 135

Mutant Huntingtin Promotes the Fibrillogenesis of Wild-type Huntingtin

Busch, A., Engemann, S., Lurz, R., Okazawa, H., Lehrach, H., & Wanker, E. E. (2003) · Journal of Biological Chemistry · doi:10.1074/jbc.m303354200 · Cited by 134

Small-molecule TrkB receptor agonists improve motor function and extend survival in a mouse model of Huntington's disease

Jiang, M., Peng, Q., Liu, X., Jin, J., Hou, Z., Zhang, J., Mori, S., Ross, C. A., Ye, K., & Duan, W. (2013) · Human Molecular Genetics · doi:10.1093/hmg/ddt098 · Cited by 133

Hallmarks of neurodegenerative diseases

Wilson, D. M., Cookson, M. R., Van Den Bosch, L., Zetterberg, H., Holtzman, D. M., & Dewachter, I. (2023) · Cell · doi:10.1016/j.cell.2022.12.032 · Cited by 1,789

Cell cycle control in cancer

Matthews, H. K., Bertoli, C., & de Bruin, R. A. M. (2022) · Nature Reviews Molecular Cell Biology · doi:10.1038/s41580-021-00404-3 · Cited by 1,506

Chemistry, mechanism and clinical status of antisense oligonucleotides and duplex RNAs

Shen, X., & Corey, D. R. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1239 · Cited by 632

Autophagy in neurodegenerative diseases: pathogenesis and therapy

Guo, F., Liu, X., Cai, H., & Le, W. (2018) · Brain Pathology · doi:10.1111/bpa.12545 · Cited by 444

Mitochondrial dysfunction in neurodegenerative disorders

Klemmensen, M. M., Borrowman, S. H., Pearce, C., Pyles, B., & Chandra, B. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2023.10.002 · Cited by 396