Trinucleotide repeat length instability and age of onset in Huntington's disease
Abstract
The initial observation of an expanded and unstable trinucleotide repeat in the Huntington's disease gene has now been confirmed and extended in 150 independent Huntington's disease families. HD chromosomes contained 37-86 repeat units, whereas normal chromosomes displayed 11-34 repeats. The HD repeat length was inversely correlated with the age of onset of the disorder. The HD repeat was unstable in more than 80% of meiotic transmissions showing both increases and decreases in size with the largest increases occurring in paternal transmissions. The targeting of spermatogenesis as a particular source of repeat instability is reflected in the repeat distribution of HD sperm DNA. The analysis of the length and instability of individual repeats in members of these families has profound implications for presymptomatic diagnosis.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Unaffected individuals have on average 16-20 CAG repeats at the HTT locus, while affected patients have more than 40 CAGs, and age of symptom onset generally inversely correlates with repeat length.
“While the unaffected population ranges on average 16-20 triplet repeats at this locus, affected patients contain 5 40 CAGs, with the age of symptom onset in general inversely correlating with repeat length (Duyao et al. , 1993; Labbadia and Morimoto, 2013).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Duyao et al., 1993
Cites
MACDONALD, M. (1993) · Cell · doi:10.1016/0092-8674(93)90585-e · Cited by 8,366 · see citing works
Self-citationVerkerk, 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 · see citing works
Shah, M. A., Datson, N. A., Srinidhi, L., Stanton, V. P., MacDonald, M. E., Allard, M. W., Youngman, S., Am, F., Mott, R., Draths, K., et al. (1993) · Cell · Cited by 3,055 · see citing works
Self-citationAndrogen 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
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 · see citing works
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 · see citing works
Self-citationFu, 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 · see citing works
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 · 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 · see citing works
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 · see citing works
Mapping of DNA instability at the fragile X to a trinucleotide repeat sequence p(CCG)n
Kremer, E., Pritchard, M., Lynch, M., Yu, S., Holman, K., Baker, E., Warren, S., Schlessinger, D., Sutherland, G., & Richards, R. (1991) · Science · doi:10.1126/science.1675488 · Cited by 929 · see citing works
Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy
Harley, H. G., Brook, J. D., Rundle, S. A., Crow, S., Reardon, W., Buckler, A., Harper, P. S., Housman, D. E., & Shaw, D. J. (1992) · Nature · doi:10.1038/355545a0 · Cited by 725 · see citing works
Detection of an unstable fragment of DNA specific to individuals with myotonic dystrophy
Buxton, J. L., Shelbourne, P., Davies, J. L., Jones, C., Tongeren, T. V., Aslanidis, C., de Jong, P., Jansen, G., Anvret, M., Riley, B. P., et al. (1992) · Nature · doi:10.1038/355547a0 · Cited by 617 · see citing works
Flier, J. S., Underhill, L. H., Martin, J. B., & Gusella, J. F. (1986) · New England Journal of Medicine · doi:10.1056/nejm198611133152006 · Cited by 549 · see citing works
Self-citationCloning of the essential myotonic dystrophy region and mapping of the putative defect
Aslanidis, C., Jansen, G., Amemiya, C. T., Shutler, G., Mahadevan, M. S., Tsilfidis, C., Chen, C., Alleman, J., Wormskamp, N. G. M., Vooijs, M., et al. (1992) · Nature · doi:10.1038/355548a0 · Cited by 498 · see citing works
Spada, A. R. L., Roling, D. B., Harding, A. E., Warner, C. L., Spiegel, R., Hausmanowa-Petrusewicz, I., Yee, W.-C., & Fischbeck, K. H. (1992) · Nature Genetics · doi:10.1038/ng1292-301 · Cited by 368 · see citing works
Use of cyclosporin a in establishing epstein-barr virus-transformed human lymphoblastoid cell lines
Anderson, M. A., & Gusella, J. F. (1984) · In Vitro Cellular & Developmental Biology - Plant · doi:10.1007/bf02619631 · Cited by 354 · see citing works
Self-citationHomozygotes for Huntington's disease
Wexler, N. S., Young, A. B., Tanzi, R. E., Travers, H., Starosta‐Rubinstein, S., Penney, J. B., Snodgrass, S. R., Shoulson, I., Gomez, F., Arroyo, M. A. R., et al. (1987) · Nature · doi:10.1038/326194a0 · Cited by 351 · see citing works
Self-citationTsilfidis, C., MacKenzie, A., Mettler, G., Barceló, J. M., & Korneluk, R. G. (1992) · Nature Genetics · doi:10.1038/ng0692-192 · Cited by 349 · see citing works
Gispert, S., Twells, R. C. J., Orozco, G., Brice, A., Weber, J. L., Heredero, L., Scheufler, K., Riley, B. P., Allotey, R., Nothers, C., et al. (1993) · Nature Genetics · doi:10.1038/ng0793-295 · Cited by 285 · see citing works
Hollenhorst, R. W. (1970) · American Journal of Ophthalmology · doi:10.1016/0002-9394(70)90520-9 · Cited by 259 · see citing works
Unstable DNA sequence in myotonic dystrophy
Harley, H. G., Rundle, S. A., Reardon, W., Myring, J., Crow, S., Harper, P. S., Shaw, D. J., & Brook, J. D. (1992) · The Lancet · doi:10.1016/0140-6736(92)90729-m · Cited by 206 · see citing works
Fragile-X syndrome: unique genetics of the heritable unstable element.
Yu, S., Mulley, J. C., Loesch, D. Z., TURNER, G. M., Donnelly, A., Gedeon, Á. K., Hillen, D., Kremer, E. J., Lynch, M., & Pritchard, M. A. (1992) · Europe PMC (PubMed Central) · Cited by 201 · see citing works
Predictive Testing for Huntingtons Disease with Use of a Linked DNA Marker
Meissen, G., Myers, R. H., Mastromauro, C. A., Koroshetz, W. J., Klinger, K. W., Farrer, L. A., Watkins, P. A., Gusella, J. F., Bird, E. D., & Martin, J. B. (1988) · New England Journal of Medicine · doi:10.1056/nejm198803033180903 · Cited by 192 · see citing works
Self-citationPresymptomatic Diagnosis of Delayed-Onset Disease With Linked DNA Markers
Brandt, J. (1989) · JAMA · doi:10.1001/jama.261.21.3108 · Cited by 172 · see citing works
The Huntington's disease candidate region exhibits many different haplotypes
MacDonald, M. E., Novelletto, A., Lin, C., Tagle, D., Barnes, G., Bates, G. P., Taylor, S. A. M., Allitto, B. A., Altherr, M. R., Myers, R. H., et al. (1992) · Nature Genetics · doi:10.1038/ng0592-99 · Cited by 156 · see citing works
Self-citationModerate instability of the trinucleotide repeat in spino bulbar muscular atrophy
Biancalana, V., Serville, F., Prommier, J., Julien, J., Hanauer, A., & Mandel, J. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.4.255 · Cited by 124 · see citing works
Hansotia, P. L., Cleeland, C. S., & Chun, R. W. M. (1968) · Neurology · doi:10.1212/wnl.18.3.217 · Cited by 92 · see citing works
Recombination events suggest potential sites for the Huntington's disease gene
MacDonald, M. E., Haines, J. L., Zimmer, M., Cheng, S. V., Youngman, S., Whaley, W. L., Wexler, N. S., Bućan, M., Allitto, B. A., Smith, B. A., et al. (1989) · Neuron · doi:10.1016/0896-6273(89)90031-7 · Cited by 91 · see citing works
Self-citationReverse Mutation in Myotonic Dystrophy
Brunner, H. G., Jansen, G., Nillesen, W. M., Nelen, M. R., de Die-Smulders, C. E. M., Höweler, C., van Oost, B. A., Wieringa, B., Ropers, H., & Smeets, H. J. M. (1993) · New England Journal of Medicine · doi:10.1056/nejm199302183280705 · Cited by 84 · see citing works
Huntington's Disease: Two Families with Differing Clinical Features Show Linkage to the G8 Probe
Folstein, S. E., Phillips, J. A., Meyers, D. A., Chase, G. A., Abbott, M. H., Franz, M. L., Waber, P. G., Kazazian, H. H., Conneally, P. M., Hobbs, W., et al. (1985) · Science · doi:10.1126/science.2992086 · Cited by 75 · see citing works
Self-citationA sex related factor in the inheritance of Huntington's chorea
Bird, E. D., CARO, A. J., & Pilling, J. B. (1974) · Annals of Human Genetics · doi:10.1111/j.1469-1809.1974.tb01833.x · Cited by 57 · see citing works
Self-citationHuntington disease: No evidence for locus heterogeneity
Conneally, P. M. (1989) · Genomics · doi:10.1016/0888-7543(89)90062-1 · Cited by 54 · see citing works
Self-citationInstability versus predictability: the molecular diagnosis of myotonic dystrophy.
Suthers, G. K., Huson, S., & Davies, K. E. (1992) · Journal of Medical Genetics · doi:10.1136/jmg.29.11.761 · Cited by 47 · see citing works
Recombination of 4p16 DNA markers in an unusual family with Huntington disease.
Pritchard, C. A., Zhu, N., Zuo, J., Bull, L., Pericak‐Vance, M. A., Vance, J. M., Roses, A., Milatovich, A., Francke, U., & Cox, D. R. (1992) · Europe PMC (PubMed Central) · Cited by 15 · see citing works
Flagged first, then by citations
Cited by
Sorted by citations
Aggregation of Huntingtin in Neuronal Intranuclear Inclusions and Dystrophic Neurites in Brain
DiFiglia, M., Sapp, E., Chase, K. O., Davies, S. W., Bates, G. P., Vonsattel, J., & D, N. A. M. (1997) · Science · doi:10.1126/science.277.5334.1990 · Cited by 2,849 · see citing works
Self-citationCAG 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
Bates, G. P., Dorsey, R., Gusella, J. F., Hayden, M. R., Kay, C., Leavitt, B. R., Nance, M., Ross, C. A., Scahill, R. I., Wetzel, R., et al. (2015) · Nature Reviews Disease Primers · doi:10.1038/nrdp.2015.5 · Cited by 1,641 · see citing works
Self-citationUnstable 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
Tabrizi, S. J., Langbehn, D. R., Leavitt, B. R., Roos, R. A., Durr, A., Craufurd, D., Kennard, C., Hicks, S. L., Fox, N. C., Scahill, R. I., et al. (2009) · The Lancet Neurology · doi:10.1016/s1474-4422(09)70170-x · Cited by 984 · see citing works
The origins, patterns and implications of human spontaneous mutation
Crow, J. F. (2000) · Nature Reviews Genetics · doi:10.1038/35049558 · Cited by 928 · see citing works
Imbert, G., Saudou, F., Yvert, G., Devys, D., Trottier, Y., Garnier, J., Weber, C., Mandel, J., Cancel‐Tassin, G., Abbas, N., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-285 · Cited by 848 · see citing works
Langbehn, D. R., Brinkman, R. R., Falush, D., Paulsen, J. S., Hayden, M. R., & on behalf of an International Huntington's Disease Collaborative Group (2004) · Clinical Genetics · doi:10.1111/j.1399-0004.2004.00241.x · Cited by 820 · see citing works
Morley, J. F., Brignull, H. R., Weyers, J. J., & Morimoto, R. I. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.152161099 · Cited by 811 · see citing works
Zeitlin, S. O., Liu, J.-P., Chapman, D. L., Papaioannou, V. E., & Efstratiadis, A. (1995) · Nature Genetics · doi:10.1038/ng1095-155 · Cited by 807 · see citing works
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 · see citing works
The U.S.–Venezuela Collaborative Research Project*, & Wexler, N. S. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0308679101 · Cited by 761 · see citing works
Self-citationSchilling, G. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.3.397 · Cited by 755 · see citing works
Nagafuchi, S., Yanagisawa, H., Sato, K., Shirayama, T., Ohsaki, E., Bundo, M., Takeda, T., Tadokoro, K., Kondo, I., Murayama, N., et al. (1994) · Nature Genetics · doi:10.1038/ng0194-14 · Cited by 714 · see citing works
Metabolic control of cell death
Green, D. R., Galluzzi, L., & Kroemer, G. (2014) · Science · doi:10.1126/science.1250256 · Cited by 661 · see citing works
Variable tandem repeats accelerate evolution of coding and regulatory sequences
Gemayel, R., Vinces, M. D., Legendre, M., & Verstrepen, K. J. (2010) · Annual Review of Genetics · doi:10.1146/annurev-genet-072610-155046 · Cited by 633 · see citing works
A 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
Self-citationKremer, B., Goldberg, P., Andrew, S. E., Theilmann, J., Telenius, H., Zeisler, J., Squitieri, F., Lin, B., Bassett, A., Almqvist, E., et al. (1994) · New England Journal of Medicine · doi:10.1056/nejm199405193302001 · Cited by 602 · see citing works
Role of brain-derived neurotrophic factor in Huntington's disease
Zuccato, C., & Cattaneo, E. F. (2007) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2007.01.003 · Cited by 548 · see citing works
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 · see citing works
Self-citationWidespread expression of Huntington's disease gene (IT15) protein product
Sharp, A. H., Loev, S. J., Schilling, G., Li, S.-H., Li, X.-J., Bao, J., Wagster, M. V., Kotzuk, J. A., Steiner, J. P., Lo, A., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90345-3 · Cited by 513 · see citing works
Self-citationOxidative 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
Katsuno, M., Adachi, H., Kume, A., Li, M., Nakagomi, Y., Niwa, H., Sang, C., Kobayashi, Y., Doyu, M., & Sobue, G. (2002) · Neuron · doi:10.1016/s0896-6273(02)00834-6 · Cited by 474 · see citing works
The high spontaneous mutation rate: Is it a health risk?
Crow, J. F. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.16.8380 · Cited by 474 · 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
Modification of Brain Aging and Neurodegenerative Disorders by Genes, Diet, and Behavior
Mattson, M. P., Chan, S. L., & Duan, W. (2002) · Physiological Reviews · doi:10.1152/physrev.00004.2002 · Cited by 438 · see citing works
Somatic and gonadal mosaicism of the Huntington disease gene CAG repeat in brain and sperm
Telenius, H., Kremer, B., Goldberg, Y. P., Theilmann, J., Andrew, S. E., Zeisler, J., Adam, S., Greenberg, C., Ives, E. J., Clarke, L. A., et al. (1994) · Nature Genetics · doi:10.1038/ng0494-409 · Cited by 439 · see citing works
Factors affecting levels of genetic diversity in natural populations
Amos, W., & Harwood, J. (1998) · Philosophical Transactions of the Royal Society B Biological Sciences · doi:10.1098/rstb.1998.0200 · Cited by 434 · see citing works
Tseng-Crank, J., Foster, C. D., Krause, J. D., Mertz, R. J., Godinot, N., DiChiara, T. J., & Reinhart, P. H. (1994) · Neuron · doi:10.1016/0896-6273(94)90418-9 · Cited by 429 · see citing works
Abundant contribution of short tandem repeats to gene expression variation in humans
Gymrek, M., Willems, T., Guilmatre, A., Zeng, H., Markus, B., Georgiev, S., Daly, M. J., Price, A. L., Pritchard, J. K., Sharp, A. J., et al. (2016) · Nature Genetics · doi:10.1038/ng.3461 · Cited by 410 · see citing works
Reddy, P. H., Williams, M., Charles, V., Garrett, L. J., Pike-Buchanan, L., Whetsell, W. O., Miller, G., & Tagle, D. A. (1998) · Nature Genetics · doi:10.1038/2510 · Cited by 399 · see citing works
TRINUCLEOTIDE REPEAT EXPANSION AND HUMAN DISEASE
Ashley, C. T., & Warren, S. T. (1995) · Annual Review of Genetics · doi:10.1146/annurev.ge.29.120195.003415 · Cited by 395 · see citing works
Length-dependent gametic CAG repeat instability in the Huntington's disease knock-in mouse
Wheeler, V. C. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.1.115 · Cited by 395 · see citing works
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Lee, J.-H., Ramos, E. M., Lee, J.-H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., NANCE, M. A., Ross, C. A., et al. (2012) · Neurology · doi:10.1212/wnl.0b013e318249f683 · Cited by 383 · see citing works
Self-citationKalchman, M. A., Koide, H., McCutcheon, K. M., Graham, R. K., Nichol, K., Nishiyama, K., Kazemi‐Esfarjani, P., Lynn, F. C., Wellington, C. L., Metzler, M., et al. (1997) · Nature Genetics · doi:10.1038/ng0597-44 · Cited by 378 · see citing works
Brinkman, R. R., Mezei, M., Theilmann, J., Almqvist, E. W., & Hayden, M. R. (1997) · Europe PMC (PubMed Central) · Cited by 368 · see citing works
Huntingtin Spheroids and Protofibrils as Precursors in Polyglutamine Fibrilization
Poirier, M. A., Li, H., Macosko, J. C., Cai, S., Amzel, L. M., & Ross, C. A. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.m205809200 · Cited by 368 · see citing works
Self-citationLangbehn, D. R., Hayden, M. R., Paulsen, J. S., & and the PREDICT‐HD Investigators of the Huntington Study Group (2009) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30992 · Cited by 367 · see citing works
Choosing an animal model for the study of Huntington's disease
Pouladi, M. A., Morton, A. J., & Hayden, M. R. (2013) · Nature reviews. Neuroscience · doi:10.1038/nrn3570 · Cited by 350 · see citing works
Myers, R. H. (2004) · NeuroRx · doi:10.1602/neurorx.1.2.255 · Cited by 350 · see citing works
Self-citationHuntingtin localization in brains of normal and Huntington's disease patients
Sapp, E., Schwarz, C., Chase, K. O., Bhide, P. G., Young, A. B., Penney, J. B., Vonsattel, J. P., D, N. A. M., & DiFiglia, M. (1997) · Annals of Neurology · doi:10.1002/ana.410420411 · Cited by 350 · see citing works
Self-citationA biological classification of Huntington's disease: the Integrated Staging System
Tabrizi, S. J., Schobel, S., Gantman, E. C., Mansbach, A., Borowsky, B., Konstantinova, P. S., Mestre, T., Panagoulias, J., Ross, C. A., Zauderer, M., et al. (2022) · The Lancet Neurology · doi:10.1016/s1474-4422(22)00120-x · Cited by 352 · see citing works
Self-citationHuntington's disease gene (IT15) is widely expressed in human and rat tissues
Li, S.-H., Schilling, G., Young, W. S., Li, X., Margolis, R. L., Stine, O. C., Wagster, M. V., Abbott, M. H., Franz, M. L., Ranen, N. G., et al. (1993) · Neuron · doi:10.1016/0896-6273(93)90127-d · Cited by 347 · see citing works
Self-citationHuntingtin-associated protein 1 (HAP1) interacts with the p150Glued subunit of dynactin
Engelender, S. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.13.2205 · Cited by 344 · see citing works
Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones
Imanishi, T., Itoh, T., Suzuki, Y., O’Donovan, C., Fukuchi, S., Koyanagi, K. O., Barrero, R. A., Tamura, T., Yamaguchi‐Kabata, Y., Tanino, M., et al. (2004) · PLoS Biology · doi:10.1371/journal.pbio.0020162 · Cited by 331 · see citing works
Swami, M., Hendricks, A. E., Gillis, T., Massood, T., Mysore, J. S., Myers, R. H., & Wheeler, V. C. (2009) · Human Molecular Genetics · doi:10.1093/hmg/ddp242 · Cited by 330 · see citing works
Self-citationInstability of highly expanded CAG repeats in mice transgenic for the Huntington's disease mutation
Mangiarini, L., Sathasivam, K., Mahal, A., Mott, R., Seller, M. J., & Bates, G. P. (1997) · Nature Genetics · doi:10.1038/ng0297-197 · Cited by 318 · see citing works
Microsatellite evolution — evidence for directionality and variation in rate between species
Rubinsztein, D. C., Amos, W., Leggo, J., Goodburn, S. F., Jain, S., Li, S.-H., Margolis, R. L., Ross, C. A., & Ferguson-Smith, M. A. (1995) · Nature Genetics · doi:10.1038/ng0795-337 · Cited by 316 · see citing works
Self-citationAneuploidy causes proteotoxic stress in yeastPreprint
Oromendia, A. B., Dodgson, S. E., & Amon, A. (2012) · Genes & Development · doi:10.1101/gad.207407.112 · Cited by 307 · see citing works
Correlation between CAG repeat length and clinical features in Machado-Joseph disease.
Maciel, P., Gaspar, C., DeStefano, A. L., Silveira, I., Coutinho, P., Radvany, J., Dawson, D. M., Sudarsky, L. R., Guimarães, J., & Loureiro, J. L. (1995) · PubMed Central · Cited by 312 · see citing works
Molecular Basis of Genetic Instability of Triplet Repeats
Wells, R. D. (1996) · Journal of Biological Chemistry · doi:10.1074/jbc.271.6.2875 · Cited by 303 · see citing works
Cardoso, F., Seppi, K., Mair, K. J., Wenning, G. K., & Poewe, W. H. (2006) · The Lancet Neurology · doi:10.1016/s1474-4422(06)70494-x · Cited by 297 · 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
Self-citationCosta, V., Giacomello, M., Hudec, R., Lopreiato, R., Ermak, G., Lim, D., Malorni, W., Davies, K. J. A., Carafoli, E., & Scorrano, L. (2010) · EMBO Molecular Medicine · doi:10.1002/emmm.201000102 · Cited by 285 · see citing works
The powerful world of antisense oligonucleotides: From bench to bedside
Quéméner, A. M., Bachelot, L., Forestier, A., Donnou‐Fournet, E., Gilot, D., & Galibert, M. (2020) · Wiley Interdisciplinary Reviews - RNA · doi:10.1002/wrna.1594 · Cited by 279 · see citing works
Ambrose, C. M., Duyao, M. P., Barnes, G., Bates, G. P., Lin, C. S., Srinidhi, J., Baxendale, S., Hummerich, H., Lehrach, H. R., Altherr, M. R., et al. (1994) · Somatic Cell and Molecular Genetics · doi:10.1007/bf02257483 · Cited by 279 · see citing works
Self-citationDavid, G. (1998) · Human Molecular Genetics · doi:10.1093/hmg/7.2.165 · Cited by 278 · see citing works
Permanent inactivation of Huntington's disease mutation by personalized allele-specific CRISPR/Cas9
Shin, J. W., Kim, K., Chao, M. J., Atwal, R. S., Gillis, T., MacDonald, M. E., Gusella, J. F., & Lee, J. (2016) · Human Molecular Genetics · doi:10.1093/hmg/ddw286 · Cited by 281 · see citing works
Self-citationYu, D., Pendergraff, H. M., Liu, J., Kordasiewicz, H. B., Cleveland, D. W., Swayze, E. E., Lima, W. F., Crooke, S. T., Prakash, T. P., & Corey, D. R. (2012) · Cell · doi:10.1016/j.cell.2012.08.002 · Cited by 277 · see citing works
Trinucleotide expansion in haploid germ cells by gap repair
Kovtun, I. V., & McMurray, C. T. (2001) · Nature Genetics · doi:10.1038/86906 · Cited by 276 · see citing works
The distribution of structural neuropathology in pre-clinical Huntington's disease
Thieben, M. J. (2002) · Brain · doi:10.1093/brain/awf179 · Cited by 270 · see citing works
Prevalence and Incidence of Huntington's Disease: An Updated Systematic Review and Meta‐Analysis
Medina, A., Mahjoub, Y., Shaver, L. C., & Pringsheim, T. M. (2022) · Movement Disorders · doi:10.1002/mds.29228 · Cited by 272 · see citing works
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 · see citing works
Self-citationGenetics 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 · see citing works
Huntington's DiseasePreprint
Finkbeiner, S. M. (2011) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a007476 · Cited by 260 · see citing works
Characterization of Human Huntington's Disease Cell Model from Induced Pluripotent Stem Cells
Zhang, N.-Z., An, M., Montoro, D. T., & Ellerby, L. (2010) · PLOS Currents · doi:10.1371/currents.rrn1193 · Cited by 266 · see citing works
Novak, M. J. U., & Tabrizi, S. J. (2010) · BMJ · doi:10.1136/bmj.c3109 · Cited by 255 · see citing works
Molecular and Clinical Correlations in Spinocerebellar Ataxia 2: A Study of 32 Families
Cancel‐Tassin, G., Dürr, A., Didierjean, O., Imbert, G., Bürk, K., Lézin, A., Belal, S., Benomar, A., Abada-Bendib, M., Vial, C., et al. (1997) · Human Molecular Genetics · doi:10.1093/hmg/6.5.709 · Cited by 254 · see citing works
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 · see citing works
“The expanded HTT CAG repeat is highly unstable both in the germline and in somatic tissues [6–13].”
BackgroundDragileva, 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 · see citing works
Self-citationDe 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 · see citing works
Self-citation1 H NMR spectroscopy studies of Huntington's disease
Jenkins, B. G., Rosas, H. D., Chen, Y. I., Makabe, T., Myers, R. H., MacDonald, M. E., Rosen, B. R., Beal, M. F., & Koroshetz, W. J. (1998) · Neurology · doi:10.1212/wnl.50.5.1357 · Cited by 241 · see citing works
Self-citationRanen, N. G., Stine, O. C., Abbott, M. H., Sherr, M., Codori, A., Franz, M. L., Chao, N. I., Chung, A., Pleasant, N. D., & Callahan, C. (1995) · PubMed Central · Cited by 238 · see citing works
Self-citationRubinsztein, D. C., Leggo, J., Chiano, M. N., Dodge, A., Norbury, G., Rosser, E. M., & Craufurd, D. (1997) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.94.8.3872 · Cited by 238 · see citing works
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 · see citing works
Self-citationMismatch 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 · see citing works
de Almeida, L. P., Ross, C. A., Zala, D., Aebischer, P., & Déglon, N. (2002) · Journal of Neuroscience · doi:10.1523/jneurosci.22-09-03473.2002 · Cited by 226 · see citing works
Self-citationKittler, J. T., Thomas, P., Tretter, V. E., Bogdanov, Y. D., Haucke, V., Smart, T. G., & Moss, S. J. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0401860101 · Cited by 225 · see citing works
Huntington’s disease: from huntingtin function and dysfunction to therapeutic strategies
Borrell-Pagés, M., Zala, D., Humbert, S., & Saudou, F. (2006) · Cellular and Molecular Life Sciences · doi:10.1007/s00018-006-6242-0 · Cited by 224 · see citing works
Landwehrmeyer, G. B., McNeil, S. M., Dure, L. S., Ge, P., Aizawa, H., Huang, Q. M., Ambrose, C. M., Duyao, M. P., Bird, E. D., Bonilla, E., et al. (1995) · Annals of Neurology · doi:10.1002/ana.410370213 · Cited by 222 · see citing works
Self-citationFirefly luciferase mutants as sensors of proteome stress
Gupta, R., Kasturi, P., Bracher, A., Loew, C., Zheng, M., Villella, A., Garza, D., Hartl, F. U., & Raychaudhuri, S. (2011) · Nature Methods · doi:10.1038/nmeth.1697 · Cited by 219 · see citing works
Sex differences in movement disorders
Meoni, S., Macerollo, A., & Moro, E. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-019-0294-x · Cited by 207 · see citing works
Sensory processing in Parkinson's and Huntington's disease
Boecker, H., Ceballos-Baumann, A., Bartenstein, P., Weindl, A., Siebner, H. R., Fassbender, T., Munz, F., Schwaiger, M., & Conrad, B. (1999) · Brain · doi:10.1093/brain/122.9.1651 · Cited by 207 · see citing works
Striatal D1 and D2 dopamine receptor loss in asymptomatic mutation carriers of Huntington's disease
Weeks, R. A., Piccini, P. P., Harding, A. E., & Brooks, D. J. (1996) · Annals of Neurology · doi:10.1002/ana.410400110 · Cited by 207 · see citing works
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 · see citing works
Self-citationHuntington's disease progression
Andrews, T., Weeks, R. A., Turjanski, N., Gunn, R. N., Watkins, L., Sahakian, B. J., Hodges, J. R., Rosser, A., Wood, N. W., & Brooks, D. J. (1999) · Brain · doi:10.1093/brain/122.12.2353 · Cited by 205 · see citing works
How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia
van Blitterswijk, M., DeJesus‐Hernandez, M., & Rademakers, R. (2012) · Current Opinion in Neurology · doi:10.1097/wco.0b013e32835a3efb · Cited by 200 · see citing works
Trottier, Y., Biancalana, V., & Mandel, J. (1994) · Journal of Medical Genetics · doi:10.1136/jmg.31.5.377 · Cited by 202 · see citing works
Stévanin, G., Dürr, A., & Brice, A. (2000) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5200403 · Cited by 200 · see citing works
Kennedy, L. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.17.2539 · Cited by 199 · see citing works
Cox, S., & McKellin, W. H. (1999) · Sociology of Health & Illness · doi:10.1111/1467-9566.00176 · Cited by 197 · see citing works
Apoptosis in Huntington's disease
Hickey, M. A., & Chesselet, M.-F. (2003) · Progress in Neuro-Psychopharmacology and Biological Psychiatry · doi:10.1016/s0278-5846(03)00021-6 · Cited by 197 · see citing works
Expression of Normal and Mutant Huntingtin in the Developing Brain
Bhide, P. G., Day, M., Sapp, E., Schwarz, C., Sheth, A. N., Kim, J., Young, A. B., Penney, J. B., Golden, J. A., D, N. A. M., et al. (1996) · Journal of Neuroscience · doi:10.1523/jneurosci.16-17-05523.1996 · Cited by 197 · see citing works
Self-citationThe molecular genetics of Huntington disease — a history
Bates, G. P. (2005) · Nature Reviews Genetics · doi:10.1038/nrg1686 · Cited by 195 · see citing works
Gametic but not somatic instability of CAG repeat length in Huntington's disease.
MacDonald, M. E., Barnes, G., Srinidhi, J., Duyao, M. P., Ambrose, C. M., Myers, R. H., Jackson, J. G., Conneally, P. M., Young, A. B., & Penney, J. B. (1993) · Journal of Medical Genetics · doi:10.1136/jmg.30.12.982 · Cited by 195 · see citing works
Self-citationNuclear Targeting of Mutant Huntingtin Increases Toxicity
Peters, M. F., Nucifora, F. C., Kushi, J., Seaman, H. C., Cooper, J. K., Herring, W. J., Dawson, V. L., Dawson, T. M., & Ross, C. A. (1999) · Molecular and Cellular Neuroscience · doi:10.1006/mcne.1999.0773 · Cited by 191 · see citing works
Self-citationTrinucleotide repeat expansion in neurological disease
Spada, A. R. L., Paulson, H. L., & Fischbeck, K. H. (1994) · Annals of Neurology · doi:10.1002/ana.410360604 · Cited by 185 · see citing works
Báñez-Coronel, M., Porta, S., Kagerbauer, B., Mateu-Huertas, E., Pantano, L., Ferrer, I., Guzmán, M., Estivill, X., & Martı́, E. (2012) · PLoS Genetics · doi:10.1371/journal.pgen.1002481 · Cited by 185 · see citing works
Data Analytics from Enroll‐ HD , a Global Clinical Research Platform for Huntington's Disease
Landwehrmeyer, G. B., Fitzer‐Attas, C. J., Giuliano, J. D., Gonçalves, N., Anderson, K. E., Cardoso, F., Ferreira, J. J., Mestre, T., Stout, J. C., & Sampaio, C. (2016) · Movement Disorders Clinical Practice · doi:10.1002/mdc3.12388 · Cited by 187 · see citing works
CAG expansion affects the expression of mutant huntingtin in the Huntington's disease brain
D, N. A. M., Chase, K. O., Young, C. D., Sapp, E., Schwarz, C., Matta, N., Kornreich, R., Landwehrmeyer, G. B., Bird, E., Beal, M. F., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90106-x · Cited by 187 · see citing works
Self-citation
- Authors
- Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., Gray, J., Conneally, P., Young, A., Penney, J., Hollingsworth, Z., Shoulson, I., Lazzarini, A., Falek, A., Koroshetz, W., Sax, D., Bird, E., Vonsattel, J., Bonilla, E., Alvir, J., Bickham Conde, J., Cha, J.-H., Dure, L., Gomez, F., Ramos, M., Sanchez-Ramos, J., Snodgrass, S., de Young, M., Wexler, N., Moscowitz, C., Penchaszadeh, G., MacFarlane, H., Anderson, M., Jenkins, B., Srinidhi, J., Barnes, G., Gusella, J., & MacDonald, M.
- Affiliations
- Massachusetts General Hospital (US)
- Boston University (US)
- University of Rome Tor Vergata (IT)
- Johns Hopkins University (US)
- Indiana University (US)
- University of Rochester Medicine (US)
- Rutgers, The State University of New Jersey (US)
- Emory University (US)
- Harvard University (US)
- Universidad del Zulia (VE)
- Long Island Jewish Medical Center (US)
- Kennedy Krieger Institute (US)
- Hospital Virgen del Camino (ES)
- University of Mississippi Medical Center (US)
- Hereditary Disease Foundation (US)
- ORCID
- Venue
- Nature Genetics
- Published
- 1993-08
- Volume
- 4
- Issue
- 4
- Pages
- 387-392
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1994285647
- Cited by
- 1,089
- References
- 35
- Citations by year
- 2026: 17 · 2025: 27 · 2024: 37 · 2023: 23 · 2022: 39 · 2021: 42 · 2020: 36 · 2019: 38 · 2018: 35 · 2017: 42 · 2016: 26 · 2015: 35 · 2014: 31 · 2013: 39 · 2012: 47
- FWCI
- 17.83
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institutes of Health (5r01ns017978-06)
- National Institute of Neurological Disorders and Stroke (NS17978, NS16375, NS 16367)
- Topics
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetics and Neurodevelopmental Disorders
- Keywords
- Huntington's disease, trinucleotide repeat expansion, repeat instability, age of onset, paternal transmission, spermatogenesis, presymptomatic diagnosis, repeat length
- MeSH terms
- Adult, Age Factors, Female, Genetic Carrier Screening, Humans, Huntington Disease, Genetic Linkage, Male, Middle Aged, Pedigree, Repetitive Sequences, Nucleic Acid, Spermatozoa, Linkage Disequilibrium
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
