Huntington Disease

Whole Brain Segmentation

Fischl, B., Salat, D. H., Busa, E., Albert, M., Dieterich, M., Haselgrove, C., van der Kouwe, A., Killiany, R., Kennedy, D., Klaveness, S., et al. (2002) · Neuron · doi:10.1016/s0896-6273(02)00569-x · Cited by 8,610

p62/SQSTM1 forms protein aggregates degraded by autophagy and has a protective effect on huntingtin-induced cell death

Bjørkøy, G., Lamark, T., Brech, A., Outzen, H., Perander, M., Øvervatn, A., Stenmark, H., & Johansen, T. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200507002 · Cited by 3,276

Molecular mechanisms of excitotoxicity and their relevance to pathogenesis of neurodegenerative diseases

Dong, X.-X., Wang, Y., & Qin, Z.-H. (2009) · Acta Pharmacologica Sinica · doi:10.1038/aps.2009.24 · Cited by 1,297

Roles of tau protein in health and disease

Guo, T., Noble, W., & Hanger, D. P. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1707-9 · Cited by 1,003

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

Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease

Zuccato, C., Valenza, M., & Cattaneo, E. (2010) · Physiological Reviews · doi:10.1152/physrev.00041.2009 · Cited by 848

Corticostriatal connectivity and its role in disease

Shepherd, G. M. G. (2013) · Nature Reviews Neuroscience · doi:10.1038/nrn3469 · Cited by 824

Prion-like transmission of protein aggregates in neurodegenerative diseases

Brundin, P., Melki, R., & Kopito, R. (2010) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2873 · Cited by 778

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

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

Neuropsychiatric aspects of Huntington’s disease.

Paulsen, J. S. (2001) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.71.3.310 · Cited by 486

Minocycline and Neurodegenerative Diseases

Kim, H.-S., & Suh, Y.-H. (2009) · Behavioural Brain Research · doi:10.1016/j.bbr.2008.09.040 · Cited by 447

Nonapoptotic neurodegeneration in a transgenic mouse model of Huntington's disease

Turmaine, M., Raza, A., Mahal, A., Mangiarini, L., Bates, G. P., & Davies, S. W. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.110078997 · Cited by 430

Therapeutic potential of mood stabilizers lithium and valproic acid:Beyond bipolar disorder

Chiu, C.-T., Wang, Z., Hunsberger, J. G., & Chuang, D.-M. (2013) · Pharmacological Reviews · doi:10.1124/pr.111.005512 · Cited by 404

Integrated genomics and proteomics define huntingtin CAG length-dependent networks in mice

Langfelder, P., Cantle, J. P., Chatzopoulou, D., Wang, N., Gao, F., Al-Ramahi, I., Lu, X.-H., Ramos, E. M., El-Zein, K., Zhao, Y., et al. (2016) · Nature Neuroscience · doi:10.1038/nn.4256 · Cited by 385

An Overview of the Role of Lipofuscin in Age-Related Neurodegeneration

Moreno-García, A., Kun, A., Calero, O., Medina, M., & Calero, M. (2018) · Frontiers in Neuroscience · doi:10.3389/fnins.2018.00464 · Cited by 372

The mouse cortico–basal ganglia–thalamic network

Foster, N. N., Barry, J., Korobkova, L., Garcia, L., Gao, L., Becerra, M., Sherafat, Y., Peng, B., Li, X., Choi, J.-H., et al. (2021) · Nature · doi:10.1038/s41586-021-03993-3 · Cited by 307

Network Organization of the Huntingtin Proteomic Interactome in Mammalian Brain

Shirasaki, D. I., Greiner, E. R., Al-Ramahi, I., Gray, M., Boontheung, P., Geschwind, D. H., Botas, J., Coppola, G., Horvath, S., Loo, J. A., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.05.024 · Cited by 297

Adeno-Associated Virus-Based Gene Therapy for CNS Diseases

Hocquemiller, M., Giersch, L., Audrain, M., Parker, S., & Cartier, N. (2016) · Human Gene Therapy · doi:10.1089/hum.2016.087 · Cited by 291

A myriad of miRNA variants in control and Huntington’s disease brain regions detected by massively parallel sequencing

Martí, E., Pantano, L., Bañez-Coronel, M., Llorens, F., Miñones-Moyano, E., Porta, S., Sumoy, L., Ferrer, I., & Estivill, X. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq575 · Cited by 276

Striatal neurons directly converted from Huntington’s disease patient fibroblasts recapitulate age-associated disease phenotypes

Victor, M. B., Richner, M., Olsen, H. E., Lee, S. W., Monteys, A. M., Ma, C., Huh, C. J., Zhang, B., Davidson, B. L., Yang, X. W., et al. (2018) · Nature Neuroscience · doi:10.1038/s41593-018-0075-7 · Cited by 246

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

Myelin breakdown and iron changes in Huntington's disease: pathogenesis and treatment implications

Bartzokis, G., Lu, P. H., Tishler, T. A., Fong, S. M., Oluwadara, B., Finn, J. P., Huang, D., Bordelon, Y., Mintz, J., & Perlman, S. (2007) · Neurochemical Research · doi:10.1007/s11064-007-9352-7 · Cited by 238

BDNF overexpression in the forebrain rescues Huntington's disease phenotypes in YAC128 mice

Xie, Y., Hayden, M. R., & Xu, B. (2010) · The Journal of Neuroscience · doi:10.1523/jneurosci.1637-10.2010 · Cited by 236

Oxidative Stress and Huntington’s Disease: The Good, the Bad, and the Ugly

Kumar, A., & Ratan, R. R. (2016) · Journal of Huntington s Disease · doi:10.3233/jhd-160205 · Cited by 236

Nanoparticle transport across the blood brain barrier

Grabrucker, A. M., Ruozi, B., Belletti, D., Pederzoli, F., Forni, F., Vandelli, M. A., & Tosi, G. (2016) · Tissue Barriers · doi:10.1080/21688370.2016.1153568 · Cited by 217

Huntington's disease (HD): the neuropathology of a multisystem neurodegenerative disorder of the human brain

Rüb, U., Seidel, K., Heinsen, H., Vonsattel, J. P., den Dunnen, W. F., & Korf, H. W. (2016) · Brain Pathology · doi:10.1111/bpa.12426 · Cited by 206

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

Brain-derived neurotrophic factor restores synaptic plasticity in a knock-in mouse model of Huntington's disease

Lynch, G., Kramar, E. A., Rex, C. S., Jia, Y., Chappas, D., Gall, C. M., & Simmons, D. A. (2007) · The Journal of Neuroscience · doi:10.1523/jneurosci.5113-06.2007 · Cited by 181

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

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

The P2X7 Receptor: Central Hub of Brain Diseases

Andrejew, R., Oliveira-Giacomelli, Á., Ribeiro, D. E., Glaser, T., Arnaud-Sampaio, V. F., Lameu, C., & Ulrich, H. (2020) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2020.00124 · Cited by 162

Glia in the pathogenesis of neurodegenerative diseases

Verkhratsky, A., Parpura, V., Pekna, M., Pekny, M., & Sofroniew, M. (2014) · Biochemical Society Transactions · doi:10.1042/bst20140107 · Cited by 141

An emerging role for eotaxins in neurodegenerative disease

Huber, A. K., Giles, D. A., Segal, B. M., & Irani, D. N. (2018) · Clinical Immunology · doi:10.1016/j.clim.2016.09.010 · Cited by 133

Beyond and below the cortex: The contribution of striatal dysfunction to cognition and behaviour in neurodegeneration

O'Callaghan, C., Bertoux, M., & Hornberger, M. (2014) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp-2012-304558 · Cited by 131

Biophysical Insights into How Surfaces, Including Lipid Membranes, Modulate Protein Aggregation Related to Neurodegeneration

Burke, K. A., Yates, E. A., & Legleiter, J. (2013) · Frontiers in Neurology · doi:10.3389/fneur.2013.00017 · Cited by 127

The role of the basal ganglia in category learning

Ashby, F. G., & Ennis, J. M. (2006) · Psychology of Learning and Motivation · doi:10.1016/s0079-7421(06)46001-1 · Cited by 120

Increased GABAergic function in mouse models of Huntington's disease: Reversal by BDNF

Cepeda, C., Starling, A. J., Wu, N., Nguyen, O. K., Uzgil, B., Soda, T., André, V. M., Ariano, M. A., & Levine, M. S. (2004) · Journal of Neuroscience Research · doi:10.1002/jnr.20344 · Cited by 118

Imaging of microglia in patients with neurodegenerative disorders

Politis, M. (2012) · Frontiers in Pharmacology · doi:10.3389/fphar.2012.00096 · Cited by 111

Evaluating imaging biomarkers for neurodegeneration in pre-symptomatic Huntington's disease using machine learning techniques

Rizk-Jackson, A., Stoffers, D., Sheldon, S., Kuperman, J., Dale, A., Goldstein, J., Corey-Bloom, J., Poldrack, R. A., & Aron, A. R. (2011) · NeuroImage · doi:10.1016/j.neuroimage.2010.04.273 · Cited by 107

Cholesterol‐loaded nanoparticles ameliorate synaptic and cognitive function in Huntington's disease mice

Valenza, M., Chen, J. Y., Di Paolo, E., Ruozi, B., Belletti, D., Ferrari Bardile, C., Leoni, V., Caccia, C., Brilli, E., Di Donato, S., et al. (2015) · EMBO Molecular Medicine · doi:10.15252/emmm.201505413 · Cited by 112

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

The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion

Li, Z., Farias, F. H. G., Dube, U., Del-Aguila, J. L., Mihindukulasuriya, K. A., Fernandez, M. V., Ibanez, L., Budde, J. P., Wang, F., Lake, A. M., et al. (2020) · Acta Neuropathologica · doi:10.1007/s00401-019-02066-0 · Cited by 85

Complex alteration of NMDA receptors in transgenic Huntington's disease mouse brain: analysis of mRNA and protein expression, plasma membrane association, interacting proteins, and phosphorylation

Luthi-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

Age-related Huntington’s disease progression modeled in directly reprogrammed patient-derived striatal neurons highlights impaired autophagy

Oh, Y. M., Lee, S. W., Kim, W. K., Chen, S., Church, V. A., Cates, K., Li, T., Zhang, B., Dolle, R. E., Dahiya, S., et al. (2022) · Nature Neuroscience · doi:10.1038/s41593-022-01185-4 · Cited by 100

Oxidative damage to the promoter region of SQSTM1/p62 is common to neurodegenerative disease

Du, Y., Wooten, M. C., & Wooten, M. W. (2009) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.05.015 · Cited by 96

Task-Set Switching Deficits in Early-Stage Huntington's Disease: Implications for Basal Ganglia Function

Aron, A. R., Watkins, L., Sahakian, B. J., Monsell, S., Barker, R. A., & Robbins, T. W. (2003) · Journal of Cognitive Neuroscience · doi:10.1162/jocn.2003.15.5.629 · Cited by 106

Induction of autophagy with catalytic mTOR inhibitors reduces huntingtin aggregates in a neuronal cell model

Roscic, A., Baldo, B., Crochemore, C., Marcellin, D., & Paganetti, P. (2011) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2011.07435.x · Cited by 92

Evidence for altered cholesterol metabolism in Huntington's disease post mortem brain tissue

Kreilaus, F., Spiro, A. S., McLean, C. A., Garner, B., & Jenner, A. M. (2016) · Neuropathology and Applied Neurobiology · doi:10.1111/nan.12286 · Cited by 92

Epigenetic dysregulation of hairy and enhancer of split 4 (HES4) is associated with striatal degeneration in postmortem Huntington brains

Bai, G., Cheung, I., Shulha, H. P., Coelho, J. E., Li, P., Dong, X., Jakovcevski, M., Wang, Y., Grigorenko, A., Jiang, Y., et al. (2015) · Human Molecular Genetics · doi:10.1093/hmg/ddu561 · Cited by 77

N17 Modifies Mutant Huntingtin Nuclear Pathogenesis and Severity of Disease in HD BAC Transgenic Mice

Gu, X., Cantle, J. P., Greiner, E. R., Lee, C. Y. D., Barth, A. M., Gao, F., Park, C. S., Zhang, Z., Sandoval-Miller, S., Zhang, R. L., et al. (2015) · Neuron · doi:10.1016/j.neuron.2015.01.008 · Cited by 77

Huntington’s Disease Pathogenesis Is Modified In Vivo by Alfy/Wdfy3 and Selective Macroautophagy

Fox, L. M., Kim, K., Johnson, C. W., Chen, S., Croce, K. R., Victor, M. B., Eenjes, E., Bosco, J. R., Randolph, L. K., Dragatsis, I., et al. (2020) · Neuron · doi:10.1016/j.neuron.2019.12.003 · Cited by 76

The benefits of exercise on structural and functional plasticity in the rodent hippocampus of different disease models.

Patten, A. R., Yau, S. Y., Fontaine, C. J., Meconi, A., Wortman, R. C., & Christie, B. R. (2015) · Brain Plasticity · doi:10.3233/bpl-150016 · Cited by 64

Back and forth in time: Directing age in iPSC-derived lineages

Cornacchia, D., & Studer, L. (2017) · Brain Research · doi:10.1016/j.brainres.2015.11.013 · Cited by 56

Purinergic Receptors in Neurological Diseases With Motor Symptoms: Targets for Therapy

Oliveira-Giacomelli, Á., Naaldijk, Y., Sardá-Arroyo, L., Gonçalves, M. C. B., Corrêa-Velloso, J., Pillat, M. M., de Souza, H. D. N., & Ulrich, H. (2018) · Frontiers in Pharmacology · doi:10.3389/fphar.2018.00325 · Cited by 50

SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes

Birolini, G., Verlengia, G., Talpo, F., Maniezzi, C., Zentilin, L., Giacca, M., Conforti, P., Cordiglieri, C., Caccia, C., Leoni, V., et al. (2021) · Brain · doi:10.1093/brain/awab186 · Cited by 48

Faulty splicing and cytoskeleton abnormalities in Huntington's disease

Fernández‐Nogales, M., Santos‐Galindo, M., Hernández, I. H., Cabrera, J. R., & Lucas, J. J. (2016) · Brain Pathology · doi:10.1111/bpa.12430 · Cited by 41

Moving toward a gene therapy for Huntington’s disease

Glorioso, J. C., Cohen, J. B., Carlisle, D. L., Munoz-Sanjuan, I., & Friedlander, R. M. (2015) · Gene Therapy · doi:10.1038/gt.2015.102 · Cited by 20

Astrocyte transduction is required for rescue of behavioral phenotypes in the YAC128 mouse model with AAV-RNAi mediated HTT lowering therapeutics

Stanek, L. M., Bu, J., & Shihabuddin, L. S. (2019) · Neurobiology of Disease · doi:10.1016/j.nbd.2019.04.015 · Cited by 15

Pro-BDNF Knockout Causes Abnormal Motor Behaviours and Early Death in Mice

Li, H., Lin, L.-Y., Zhang, Y., Lim, Y., Rahman, M., Beck, A., Al-Hawwas, M., Feng, S., Bobrovskaya, L., & Zhou, X.-F. (2020) · Neuroscience · doi:10.1016/j.neuroscience.2020.05.007 · Cited by 16

Aberrant splicing in Huntington’s disease via disrupted TDP-43 activity accompanied by altered m6A RNA modification

Nguyen, T. B., Miramontes, R., Chillon-Marinas, C., Maimon, R., Vazquez-Sanchez, S., Lau, A. L., McClure, N. R., England, W. E., Singha, M., Stocksdale, J. T., et al. (2023) · doi:10.1101/2023.10.31.565004 · Cited by 15

Neuropathology of dementia

Kim, E.-J., Vatsavayai, S., & Seeley, W. W. (2016) · The Behavioral Neurology of Dementia · doi:10.1017/9781139924771.008 · Cited by 7

Mitochondrial Function and Neurodegenerative Diseases

Wilkins, H. M., Weidling, I., Koppel, S., Wang, X., von Schulze, A., & Swerdlow, R. H. (2018) · The Molecular and Cellular Basis of Neurodegenerative Diseases · doi:10.1016/b978-0-12-811304-2.00013-4 · Cited by 2