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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Open accessAbstract
The Huntington's disease (HD) gene has been mapped in 4p16.3 but has eluded identification. We have used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect. A new gene, IT15, isolated using cloned trapped exons from the target area contains a polymorphic trinucleotide repeat that is expanded and unstable on HD chromosomes. A (CAG)n repeat longer than the normal range was observed on HD chromosomes from all 75 disease families examined, comprising a variety of ethnic backgrounds and 4p16.3 haplotypes. The (CAG)n repeat appears to be located within the coding sequence of a predicted approximately 348 kd protein that is widely expressed but unrelated to any known gene. Thus, the HD mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
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“Huntington’s Disease arises from an expansion of cytosine-adenine-guanine (CAG) trinucleotide repeats in the HTT gene (formerly IT15) of chromosome 4p16.3, leading to the production of a dysfunctional huntingtin protein (polyQ-HTT) [161,162].”
From The Impact of Neurotoxin Proteins Trafficked by Primary Cilia and Extracellular Vesicles in Neurodegenerative Diseases (2025) · cites this paper as [162]
Experimental — accuracy not yet measuredThe source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“HD is usually confirmed diagnostically through the identification of 36 or more CAG repeats on the short arm of chromosome 4p16.3 in the Huntingtin gene [162].”
From The Impact of Neurotoxin Proteins Trafficked by Primary Cilia and Extracellular Vesicles in Neurodegenerative Diseases (2025) · cites this paper as [162]
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“HD etiology is entirely due to autosomal-dominant HTT mutations with abnormal CAG repeat expansion in exon 1, producing mutant huntingtin protein that aggregates and leads to neurodegeneration (379).”
From Blood-Brain Barrier: From Physiology to Disease and Back (2019) · cites this paper as [379]
Experimental — accuracy not yet measuredIn the citing paper
“The cause of Huntington's disease, an autosomal dominant neurological disorder, is well established as an abnormal expansion of CAG triplet repeats in exon 1 of the ubiquitously expressed huntingtin ( HTT ) gene, resulting in an elongated polyglutamine (Q) tract in the mutant huntingtin protein (mHTT) (MacDonald et al. , 1993).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as MacDonald et al., 1993
In the citing paper
“In Huntington disease, poly-glutamine-expanded mHTT aggregates and accumulates194”
From PROTAC targeted protein degraders: the past is prologue (2022) · cites this paper as [194]
In the citing paper
“Huntington’s disease (HD) is an inherited disorder caused by a CAG trinucleotide repeat expansion in HTT which leads to progressive motor and cognitive impairment due to the gradual loss of neurons within striatal and cortical brain regions [1].”
From miR-10b-5p expression in Huntington’s disease brain relates to age of onset and the extent of striatal involvement (2015) · cites this paper as [1]
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Basic local alignment search tool
Altschul, S. F., Gish, W., Miller, W., Myers, E. W., & Lipman, D. J. (1990) · Journal of Molecular Biology · doi:10.1006/jmbi.1990.9999 · Cited by 98,669
DNA sequencing with chain-terminating inhibitors
Sanger, F., Nicklen, S., & Coulson, A. R. (1977) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.74.12.5463 · Cited by 68,572
Verkerk, A. J. M. H., Pieretti, M., Sutcliffe, J. S., Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Reiner, O., Richards, S., Victoria, M. F., Zhang, F., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90397-h · Cited by 3,481
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
Brook, J. D., McCurrach, M. E., Harley, H. G., Buckler, A., Church, D. M., Aburatani, H., Hunter, K. W., Stanton, V. P., Thirion, J., Hudson, T. J., et al. (1992) · Cell · doi:10.1016/0092-8674(92)90154-5 · Cited by 2,754
A polymorphic DNA marker genetically linked to Huntington's disease
Gusella, J. F., Wexler, N. S., Conneally, P. M., Naylor, S. L., Anderson, M. A., Tanzi, R. E., Watkins, P. C., Ottina, K. A., Wallace, M. R., Sakaguchi, A. Y., et al. (1983) · Nature · doi:10.1038/306234a0 · Cited by 2,340
Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Myotonic Dystrophy Mutation: an Unstable CTG Repeat in the 3′ Untranslated region of the Gene
Mahadevan, M. S., Tsilfidis, C., Sabourin, L. A., Shutler, G., Amemiya, C. T., Jansen, G., Neville, C., Narang, M. A., Barceló, J. M., O'Hoy, K., et al. (1992) · Science · doi:10.1126/science.1546325 · Cited by 1,656
Absence of expression of the FMR-1 gene in fragile X syndrome
Pieretti, M., Zhang, F., Fu, Y.-H., Warren, S. T., Oostra, B. A., Caskey, C. T., & Nelson, D. L. (1991) · Cell · doi:10.1016/0092-8674(91)90125-i · Cited by 1,476
An Unstable Triplet Repeat in a Gene Related to Myotonic Muscular Dystrophy
Fu, Y., Pizzuti, A., Fenwick, R. G., King, J., Rajnarayan, S., Dunne, P. W., Dubel, J., Nasser, G. A., Ashizawa, T., de Jong, P., et al. (1992) · Science · doi:10.1126/science.1546326 · Cited by 1,453
Research works printed but not linked: 2
- Gusella, J. F., Varsanyi-Breiner, A., Kao, F. T.. Jones, C., Puck, T. T., Keys, C., Orkin, S., and Housman, D. E. (1979). Precise localiza- tion of the human @globin gene complex on chromosome 11. Proc. Natl. Acad. Sci. USA 76, 5239-5243.
- Lehrach, H., Drmanac, R.. Hoheisel, J., Larin, Z., Lennon, G., Nizetic, D., Monaco, A., Zehetner, G., and Poustka, A. (1990). Hybridisation fingerprinting in genome mapping and sequencing. In Genome Analy- sis: Genetic and Physical Mapping, Volume 1, K. E. Davies and S. M. Tighlman, eds. (Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press), pp. 39-81.
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Thieben, M. J. (2002) · Brain · doi:10.1093/brain/awf179 · Cited by 270
Stem cell technology for neurodegenerative diseases
Lunn, J. S., Sakowski, S. A., Hur, J., & Feldman, E. L. (2011) · Annals of Neurology · doi:10.1002/ana.22487 · Cited by 275
Clark, H. B., Burright, E. N., Yunis, W. S., Larson, S., Wilcox, C., Hartman, B. K., Matilla‐Dueñas, A., Zoghbi, H. Y., & Orr, H. T. (1997) · Journal of Neuroscience · doi:10.1523/jneurosci.17-19-07385.1997 · Cited by 272
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Close, S. L., Su, J. L., Conneally, P. M., & Foroud, T. (2001) · Archives of Neurology · doi:10.1001/archneur.58.2.273 · Cited by 269
Orexin loss in Huntington's disease
Petersén, Å., Gil‐Mohapel, J., Maat–Schieman, M. L. C., Björkqvist, M., Tanila, H., Araújo, I. M., Smith, R. A., Popović, N., Wierup, N., Norlén, P., et al. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddi004 · Cited by 269
Designing siRNA That Distinguish between Genes That Differ by a Single Nucleotide
Schwarz, D. S., Ding, H., Kennington, L. A., Moore, J. T., Schelter, J. M., Burchard, J., Linsley, P. S., D, N. A. M., Xu, Z., & Zamore, P. D. (2006) · PLoS Genetics · doi:10.1371/journal.pgen.0020140 · Cited by 274
Regional Specificity of Brain Atrophy in Huntington's Disease
Halliday, G. M., McRitchie, D. A., Macdonald, V., Double, K. L., Trent, R. J., & McCusker, E. A. (1998) · Experimental Neurology · doi:10.1006/exnr.1998.6919 · Cited by 271
Interaction of Huntingtin-Associated Protein with Dynactin P150Glued
Li, S., Gutekunst, C., Hersch, S. M., & Li, X.-J. (1998) · Journal of Neuroscience · doi:10.1523/jneurosci.18-04-01261.1998 · Cited by 271
Machado‐Joseph disease gene product is a cytoplasmic protein widely expressed in brain
Paulson, H. L., Das, S. S., Crino, P. B., Perez, M. K., Patel, S. C., Gotsdiner, D. B., Fischbeck, K. H., & Pittman, R. N. (1997) · Annals of Neurology · doi:10.1002/ana.410410408 · Cited by 271
Isolation of genes from complex sources of mammalian genomic DNA using exon amplification
Church, D. M., Stotler, C., Rutter, J. L., Murrell, J. R., Trofatter, J. A., & Buckler, A. (1994) · Nature Genetics · doi:10.1038/ng0194-98 · Cited by 271
Transcriptional signatures in Huntington's disease
Cha, J.-H. J. (2007) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2007.03.004 · Cited by 275
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Galts, C., Bettio, L. E. B., Jewett, D. C., Yang, C. C., Brocardo, P. S., Rodrigues, A. L. S., Thacker, J. S., & Gil‐Mohapel, J. (2019) · Neuroscience & Biobehavioral Reviews · doi:10.1016/j.neubiorev.2019.04.002 · Cited by 278
Fonteijn, H., Marc Modat, A., Clarkson, M. J., Barnes, J., Lehmann, M., Hobbs, N. Z., Scahill, R. I., Tabrizi, S. J., Sebastien Ourselin, A., Fox, N. C., et al. (2012) · NeuroImage · doi:10.1016/j.neuroimage.2012.01.062 · Cited by 279
Ashley, C. T., Sutcliffe, J. S., Kunst, C. B., Leiner, H. A., Eichler, E. E., Nelson, D. L., & Warren, S. T. (1993) · Nature Genetics · doi:10.1038/ng0793-244 · Cited by 269
Neuroscience: Breaking Down Scientific Barriers to the Study of Brain and Mind
Kandel, E. R., & Squire, L. R. (2000) · Science · doi:10.1126/science.290.5494.1113 · Cited by 277
Mitochondrial Calcium: Effects of Its Imbalance in Disease
Matuz‐Mares, D., González‐Andrade, M., Araiza-Villanueva, M. G., Vilchis‐Landeros, M. M., & Vázquez‐Meza, H. (2022) · Antioxidants · doi:10.3390/antiox11050801 · Cited by 289
Mutant huntingtin and mitochondrial dysfunction
Bossy‐Wetzel, E., Petrilli, A. M., & Knott, A. B. (2008) · Trends in Neurosciences · doi:10.1016/j.tins.2008.09.004 · Cited by 276
Wild, E. J., Boggio, R., Langbehn, D. R., Robertson, N., Salman, H., Miller, J. R. C., Zetterberg, H., Leavitt, B. R., Kuhn, R. R., Tabrizi, S. J., et al. (2015) · Journal of Clinical Investigation · doi:10.1172/jci80743 · Cited by 265
Direct detection of novel expanded trinucleotide repeats in the human genome
Schalling, M., Hudson, T. J., Buetow, K. H., & Housman, D. E. (1993) · Nature Genetics · doi:10.1038/ng0693-135 · Cited by 268
Brain imaging and cognitive dysfunctions in Huntington’s disease
Montoya, A. G., Price, B. H., Menear, M., & Lepage, M. (2006) · Journal of Psychiatry and Neuroscience · doi:10.1139/jpn.0603 · Cited by 265
Transplanted fetal striatum in Huntington's disease: Phenotypic development and lack of pathology
Freeman, T. B., Cicchetti, F., Hauser, R. A., Deacon, T. W., Li, X., Hersch, S. M., Nauert, G. M., Sanberg, P. R., Kordower, J. H., Saporta, S., et al. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.25.13877 · Cited by 267
Sakai, J., Hoshino, A., Takahashi, S., Miura, Y., Ishii, H., Suzuki, H., Kawarabayasi, Y., & Yamamoto, T. T. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)42151-x · Cited by 268
Tautz, D., & Schlötterer, C. (1994) · Current Opinion in Genetics & Development · doi:10.1016/0959-437x(94)90067-1 · Cited by 271
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
Pfister, E. L., Kennington, L., Straubhaar, J., Wagh, S., Liu, W., DiFiglia, M., Landwehrmeyer, B., Vonsattel, J.-P., Zamore, P. D., & Aronin, N. (2009) · Current Biology · doi:10.1016/j.cub.2009.03.030 · Cited by 261
Marsh, J. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.1.13 · Cited by 264
Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
Cox, G. A., Lutz, C. M., Yang, C., Biemesderfer, D., Bronson, R. T., Fu, A. Q., Aronson, P. S., Noebels, J. L., & Frankel, W. N. (1997) · Cell · doi:10.1016/s0092-8674(01)80016-7 · Cited by 262
Shelbourne, P., Killeen, N. P., Hevner, R. F., Johnston, H. M., Tecott, L. H., Lewandoski, M. B., Ennis, M., Ramirez, L., Li, Z., Iannicola, C., et al. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.5.763 · Cited by 263
Neostriatal and cortical quinolinate levels are increased in early grade Huntington's disease
GUIDETTI, P., Luthi‐Carter, R., Augood, S. J., & Schwarcz, R. M. (2004) · Neurobiology of Disease · doi:10.1016/j.nbd.2004.07.006 · Cited by 259
Milakovic, T., & Johnson, G. V. W. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m504749200 · Cited by 259
Palfi, S., Ferrante, R. J., Brouillet, E., Beal, M. F., Dolan, R., Guyot, M., Peschanski, M., & Hantraye, P. (1996) · Journal of Neuroscience · doi:10.1523/jneurosci.16-09-03019.1996 · Cited by 259
Filamentous nerve cell inclusions in neurodegenerative diseases
Goedert, M., Spillantini, M. G., & Davies, S. W. (1998) · Current Opinion in Neurobiology · doi:10.1016/s0959-4388(98)80090-1 · Cited by 261
Rapid Fragile X Carrier Screening and Prenatal Diagnosis Using a Nonradioactive PCR Test
Brown, W. T. (1993) · JAMA · doi:10.1001/jama.1993.03510130075034 · Cited by 267
Naveed, M., Ayday, E., Clayton, E. W., Fellay, J., Gunter, C. A., Hubaux, J.-P., Malin, B. A., & Wang, X. (2015) · ACM Computing Surveys · doi:10.1145/2767007 · Cited by 261
Genetics and Neuropathology of Huntington's Disease
Reiner, A. J., Dragatsis, I., & Dietrich, P. (2011) · International review of neurobiology · doi:10.1016/b978-0-12-381328-2.00014-6 · Cited by 262
The Kynurenine Pathway Modulates Neurodegeneration in a Drosophila Model of Huntington's Disease
Campesan, S., Green, E. W., Breda, C., Sathyasaikumar, K. V., Muchowski, P. J., Schwarcz, R. M., Kyriacou, C. P., & Giorgini, F. (2011) · Current Biology · doi:10.1016/j.cub.2011.04.028 · Cited by 261
Simmons, D. A., Rex, C. S., Palmer, L. C., Pandyarajan, V., Fedulov, V., Gall, C. M., & LYNCH, G. S. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0811228106 · Cited by 261
Huntington's DiseasePreprint
Finkbeiner, S. M. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a007476 · Cited by 274
Weight loss in Huntington disease increases with higher CAG repeat number
Aziz, N. A., van der Burg, J. M. M., Landwehrmeyer, G. B., Brundin, P., Stijnen, T., EHDI Study Group, & Roos, R. A. C. (2008) · Neurology · doi:10.1212/01.wnl.0000334276.09729.0e · Cited by 260
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Azam, S., Haque, M. E., Balakrishnan, R., Kim, I., & Choi, D. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.683459 · Cited by 273
Isolation of the gene for McLeod syndrome that encodes a novel membrane transport protein
Ho, M. (1994) · Cell · doi:10.1016/0092-8674(94)90136-8 · Cited by 262
When more is less: Pathogenesis of glutamine repeat neurodegenerative diseases
Ross, C. A. (1995) · Neuron · doi:10.1016/0896-6273(95)90138-8 · Cited by 260
Salcedo, I., Tweedie, D., Li, Y., & Greig, N. H. (2012) · British Journal of Pharmacology · doi:10.1111/j.1476-5381.2012.01971.x · Cited by 272
Elimination of prions by branched polyamines and implications for therapeutics
Supattapone, S., Nguyen, H.-O. B., Cohen, F. E., Prusiner, S. B., & Scott, M. R. D. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.25.14529 · Cited by 259
Genetic Neurodegenerative Diseases: The Human Illness and Transgenic Models
Price, D. L., Sisodia, S. S., & Borchelt, D. (1998) · Science · doi:10.1126/science.282.5391.1079 · Cited by 258
Linkage between male infertility and trinucleotide repeat expansion in the androgen-receptor gene
Dowsing, A. T., Yong, E., Clark, M., McLachlan, R. I., de Kretser, D. M., & Trounson, A. O. (1999) · The Lancet · doi:10.1016/s0140-6736(98)08413-x · Cited by 258
Telling, G. C., Haga, T., Torchia, M., Tremblay, P. J., DeArmond, S. J., & Prusiner, S. B. (1996) · Genes & Development · doi:10.1101/gad.10.14.1736 · Cited by 258
Deranged neuronal calcium signaling and Huntington disease
Борисович, Б. И., & Hayden, M. R. (2004) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2004.08.035 · Cited by 256
Secondary Structure of Huntingtin Amino-Terminal Region
Kim, M. W., Chelliah, Y., Kim, S. W., Otwinowski, Z., & Борисович, Б. И. (2009) · Structure · doi:10.1016/j.str.2009.08.002 · Cited by 257
Circadian rhythms in neurodegenerative disorders
Nassan, M. M., & Videnović, A. (2021) · Nature Reviews Neurology · doi:10.1038/s41582-021-00577-7 · Cited by 266
Inflammatory changes in the substantia nigra and striatum following MPTP intoxication
onkowska, A. C., Kurkowska‐Jastrzębska, I., & onkowski, A. C. (2000) · Annals of Neurology · doi:10.1002/1531-8249(200007)48:1 · Cited by 16
Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells
Zhang, N., An, M. C., Montoro, D. T., & Ellerby, L. (2010) · PLoS Currents · doi:10.1371/currents.rrn1193 · Cited by 261
Novak, M. J. U., & Tabrizi, S. J. (2010) · BMJ · doi:10.1136/bmj.c3109 · Cited by 255
Gasotransmitter hydrogen sulfide signaling in neuronal health and disease
Paul, B. D., & Snyder, S. H. (2017) · Biochemical Pharmacology · doi:10.1016/j.bcp.2017.11.019 · Cited by 260
Progress in gene therapy for neurological disorders
Simonato, M., Bennett, J., Boulis, N. M., Castro, M. G., Fink, D. J., Goins, W. F., Gray, S. J., Lowenstein, P. R., Vandenberghe, L. H., Wilson, T. J., et al. (2013) · Nature Reviews Neurology · doi:10.1038/nrneurol.2013.56 · Cited by 257
Lim, R. G., Quan, C., Reyes-Ortiz, A. M., Lutz, S. E., Kedaigle, A. J., Gipson, T. A., Wu, J., Vatine, G. D., Stocksdale, J., Casale, M. S., et al. (2017) · Cell Reports · doi:10.1016/j.celrep.2017.04.021 · Cited by 253
Neuronal Induction of the Immunoproteasome in Huntington's Disease
Dı́az-Hernández, M., Hernández, F., Martı́n-Aparicio, E., Gómez‐Ramos, P., Morán, M. A., Castaño, J. G., Ferrer, I., Ávila, J., & Lucas, J. J. (2003) · Journal of Neuroscience · doi:10.1523/jneurosci.23-37-11653.2003 · Cited by 253
Elimination of Toxic Microsatellite Repeat Expansion RNA by RNA-Targeting Cas9
Batra, R., Nelles, D. A., PIRIE, E. C., Blue, S. M., Marina, R. J., Wang, H., Chaim, I. A., Thomas, J. D., Zhang, N., Nguyen, V., et al. (2017) · Cell · doi:10.1016/j.cell.2017.07.010 · Cited by 262
Pinto, R. M., Dragileva, E., Kirby, A., Lloret, A., Lopez, E., St. Claire, J., Panigrahi, G. B., Hou, C., Holloway, K., Gillis, T., et al. (2013) · PLoS Genetics · doi:10.1371/journal.pgen.1003930 · Cited by 250
Benchoua, A., Trioulier, Y., Zala, D., Gaillard, M., Lefort, N., Dufour, N., Saudou, F., Elalouf, J., Hirsch, É. C., Hantraye, P., et al. (2006) · Molecular Biology of the Cell · doi:10.1091/mbc.e05-07-0607 · Cited by 257
Zhang, X., Smith, D. L., Meriin, A. B., Engemann, S., Russel, D. E., Roark, M., Washington, S. L., Maxwell, M. M., Marsh, J., Thompson, L. M., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408936102 · Cited by 251
Calkins, M. J., Jakel, R. J., Johnson, D. A., Chan, K., Kan, Y. W., & Johnson, J. A. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0408487101 · Cited by 247
Topography of cerebral atrophy in early Huntington's disease: a voxel based morphometric MRI study.
Kassubek, J., Juengling, F. D., Kioschies, T. A., Henkel, K., Karitzky, J., Kramer, B., Ecker, D., Andrich, J., Carsten Saft, C., Kraus, P., et al. (2004) · PubMed Central · Cited by 245
Dragileva, E., Hendricks, A. E., Teed, A. M., Gillis, T., Lopez, E., Friedberg, E. C., Kucherlapati, R., Edelmann, W., Lunetta, K. L., MacDonald, M. E., et al. (2008) · Neurobiology of Disease · doi:10.1016/j.nbd.2008.09.014 · Cited by 247
Self-citationMcBride, J. L., Pitzer, M. R., Boudreau, R. L., Dufour, B., Hobbs, T., Ojeda, S. R., & Davidson, B. L. (2011) · Molecular Therapy · doi:10.1038/mt.2011.219 · Cited by 247
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 transition metals copper and iron in neurodegenerative diseases
Rivera-Mancía, S., Pérez‐Neri, I., Ríos, C., Tristán-López, L. A., Rivera-Espinosa, L., & Montes, S. (2010) · Chemico-Biological Interactions · doi:10.1016/j.cbi.2010.04.010 · Cited by 247
Stack, E. C., Kubilus, J. K., Smith, K., Cormier, K., Signore, S. J. D., Guélin, E., Ryu, H., Hersch, S. M., & Ferrante, R. J. (2005) · The Journal of Comparative Neurology · doi:10.1002/cne.20680 · Cited by 255
Goldberg, Y. P., Kremer, B. P. H., Andrew, S. E., Theilmann, J., Graham, R. K., Squitieri, F., Telenius, H., Adam, S., Sajoo, A., Starr, E. M., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-174 · Cited by 246
Bilateral human fetal striatal transplantation in Huntington’s disease
Hauser, R. A., Furtado, S., Cimino, C. R., Delgado, H., Eichler, S., Schwartz, S. E., Scott, D., Nauert, G. M., Soety, E. M., Sossi, V., et al. (2002) · Neurology · doi:10.1212/wnl.58.5.687 · Cited by 245
Ellerby, L., Hackam, A. S., Propp, S. S., Hayden, M. R., Rabizadeh, S., Cashman, N. R., Trifiro, M. A., Pinsky, L., Wellington, C. L., Salvesen, G. S., et al. (1999) · Journal of Neurochemistry · doi:10.1046/j.1471-4159.1999.0720185.x · Cited by 245
De novo expansion of a (CAG)n repeat in sporadic Huntington's disease
Myers, R. H., MacDonald, M. E., Koroshetz, W. J., Duyao, M. P., Ambrose, C. M., Taylor, S. A., Barnes, G., Srinidhi, J., Lin, C. S., Whaley, W. L., et al. (1993) · Nature Genetics · doi:10.1038/ng1093-168 · Cited by 245
Self-citationHuman neural stem cell transplants improve motor function in a rat model of Huntington's disease
McBride, J. L., Behrstock, S. P., Chen, E., Jakel, R. J., Siegel, I. M., Svendsen, C. N., & Kordower, J. H. (2004) · The Journal of Comparative Neurology · doi:10.1002/cne.20176 · Cited by 243
Psychological impact of genetic testing for Huntington's disease: an update of the literature
Meiser, B. (2000) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.69.5.574 · Cited by 243
The Role of Microglia and Astrocytes in Huntington’s Disease
Palpagama, T. H., Waldvogel, H. J., Faull, R. L. M., & Kwakowsky, A. (2019) · Frontiers in Molecular Neuroscience · doi:10.3389/fnmol.2019.00258 · 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
fMRI biomarker of early neuronal dysfunction in presymptomatic Huntington's Disease.
Paulsen, J. S., Zimbelman, J. L., Hinton, S. C., Langbehn, D. R., Leveroni, C. L., Benjamin, M. L., Reynolds, N. C., & Rao, S. M. (2004) · PubMed Central · Cited by 240
Chen, J., Sonsalla, P. K., Pedata, F., Melani, A., Domenici, M. R., Popoli, P., Geiger, J. D., Lopes, L. V., & de Mendonça, A. (2007) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2007.09.002 · Cited by 242
Huntington's disease accelerates epigenetic aging of human brain and disrupts DNA methylation levels
Horvath, S., Langfelder, P., Kwak, S., Aaronson, J., Rosinski, J., Vogt, T., Eszes, M., Faull, R. L. M., Curtis, M. A., Waldvogel, H. J., et al. (2016) · Aging · doi:10.18632/aging.101005 · Cited by 250
Sairazi, N. S. M., & Sirajudeen, K. N. S. (2020) · Evidence-based Complementary and Alternative Medicine · doi:10.1155/2020/6565396 · Cited by 260
Autophagy Receptors and Neurodegenerative Diseases
Deng, Z., Purtell, K., Lachance, V., Wold, M. S., Chen, S., & Yue, Z. (2017) · Trends in Cell Biology · doi:10.1016/j.tcb.2017.01.001 · Cited by 245
Altered neurotransmitter receptor expression in transgenic mouse models of Huntington's disease
Cha, J.-H. J., Frey, A. S., Alsdorf, S. A., Kerner, J. A., Kosinski, C. M., Mangiarini, L., Penney, J. B., Davies, S. W., Bates, G. P., & Young, A. B. (1999) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1999.0449 · Cited by 239
Histone deacetylase inhibitors reduce polyglutamine toxicity
McCampbell, A., Taye, A. A., Whitty, L., Penney, E. B., Steffan, J. S., & Fischbeck, K. H. (2001) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.261400698 · Cited by 239
Wild-Type Huntingtin Reduces the Cellular Toxicity of Mutant Huntingtin In Vivo
Leavitt, B. R., Guttman, J. A., Hodgson, J., Kimel, G. H., Singaraja, R. R., Vogl, A. W., & Hayden, M. R. (2001) · The American Journal of Human Genetics · doi:10.1086/318207 · Cited by 238
Unravelling and Exploiting Astrocyte Dysfunction in Huntington’s Disease
Khakh, B. S., Beaumont, V., Cachope, R., Muñoz-Sanjuán, I., Goldman, S. A., & Grantyn, R. (2017) · Trends in Neurosciences · doi:10.1016/j.tins.2017.05.002 · Cited by 238
Simple repetitive DNA sequences from primates: Compilation and analysis
Jurka, J., & Pethiyagoda, C. L. (1995) · Journal of Molecular Evolution · doi:10.1007/bf00167107 · Cited by 237
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
Preferential Nucleosome Assembly at DNA Triplet Repeats from the Myotonic Dystrophy Gene
Wang, Y.-H., Amirhaeri, S., Kang, S., Wells, R. D., & Griffith, J. D. (1994) · Science · doi:10.1126/science.8036515 · Cited by 236
Legleiter, J. A., Sontag, E. M., Lotz, G. P., Sapp, E., Ng, C.-P., DiFiglia, M., Thompson, L. M., & Muchowski, P. J. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m109.093708 · Cited by 237
Neueder, A., Landles, C., Ghosh, R., Howland, D., Myers, R. H., Faull, R. L. M., Tabrizi, S. J., & Bates, G. P. (2017) · Scientific Reports · doi:10.1038/s41598-017-01510-z · Cited by 235
[24] Membrane filter assay for detection of amyloid-like polyglutamine-containing protein aggregates
Wanker, E. E., Scherzinger, E., Heiser, V., Sittler, A., Eickhoff, H., & Lehrach, H. R. (1999) · Methods in enzymology on CD-ROM/Methods in enzymology · doi:10.1016/s0076-6879(99)09026-6 · Cited by 234
Animal Models of Huntington's Disease
Ramaswamy, S., McBride, J. L., & Kordower, J. H. (2007) · ILAR Journal · doi:10.1093/ilar.48.4.356 · Cited by 240
The Antiapoptotic Activity of Melatonin in Neurodegenerative Diseases
Wang, X. (2009) · CNS Neuroscience & Therapeutics · doi:10.1111/j.1755-5949.2009.00105.x · Cited by 232
Differences in duration of Huntington's disease based on age at onset
Foroud, T., Jackson, J. G., Ivashina, J., & Conneally, P. M. (1999) · Journal of Neurology Neurosurgery & Psychiatry · doi:10.1136/jnnp.66.1.52 · Cited by 234
Southwell, A. L., Ko, J., & Patterson, P. H. (2009) · Journal of Neuroscience · doi:10.1523/jneurosci.4286-09.2009 · Cited by 240
The expanding universe of disorders of the basal ganglia
Obeso, J. A., Rodríguez-Oroz, M. C., Stamelou, M., Bhatia, K. P., & Burn, D. J. (2014) · The Lancet · doi:10.1016/s0140-6736(13)62418-6 · Cited by 240
Treatment of Huntington's Disease
Frank, S. (2013) · Neurotherapeutics · doi:10.1007/s13311-013-0244-z · Cited by 250
Mismatch repair gene Msh2 modifies the timing of early disease in HdhQ111 striatum
Wheeler, V. C. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg056 · Cited by 232
Huntington's Disease: Can Mice Lead the Way to Treatment?
Crook, Z. R., & Housman, D. E. (2011) · Neuron · doi:10.1016/j.neuron.2010.12.035 · Cited by 236
Zuccato, C., Marullo, M., Conforti, P., MacDonald, M. E., Tartari, M., & Cattaneo, E. (2008) · Brain Pathology · doi:10.1111/j.1750-3639.2007.00111.x · Cited by 231
Self-citation
Metadata
- Authors
- MACDONALD, M.
- Affiliations
- Harvard University (US)
- Corresponding author
- MACDONALD, M
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1993-03
- Volume
- 72
- Issue
- 6
- Pages
- 971-983
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2121642311
- Semantic Scholar
- 47661acc507387c5d4de447493481bb376f88728
- Cited by
- 8,366
- References
- 60
- Citations by year
- 2026: 181 · 2025: 272 · 2024: 303 · 2023: 271 · 2022: 293 · 2021: 361 · 2020: 310 · 2019: 275 · 2018: 341 · 2017: 287 · 2016: 329 · 2015: 290 · 2014: 323 · 2013: 328 · 2012: 313
- FWCI
- 77.80
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- CaltechAUTHORS (California Institute of Technology) (submittedVersion)
- Deep Blue (University of Michigan) (submittedVersion)
- ORCA Online Research @Cardiff (Cardiff University) (submittedVersion)
- Funders
- W. M. Keck Foundation
- Dana Foundation
- Hereditary Disease Foundation
- Bristol-Myers Squibb
- Wellcome Trust
- National Institutes of Health (5r01ns025631-06)
- Medical Research Council
- National Institute of Neurological Disorders and Stroke (R01NS022031, NS25631, NS 16367, NS22031)
- 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 › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Keywords
- Huntington's disease, trinucleotide repeat expansion, CAG repeat, IT15 gene, chromosome 4p16.3, haplotype analysis, linkage disequilibrium, repeat instability, fragile X syndrome, myotonic dystrophy, gene mapping
- MeSH terms
- Amino Acid Sequence, Base Sequence, Chromosomes, Human, Pair 4, Cloning, Molecular, Exons, Genes, Humans, Huntington Disease, Molecular Sequence Data, Mutation, Oligodeoxyribonucleotides, Pedigree, Polymorphism, Genetic, Repetitive Sequences, Nucleic Acid, RNA, Messenger, Restriction Mapping, Gene Expression, Polymerase Chain Reaction
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