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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]
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.
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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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Cites
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.
Cited by
Sorted by citations
Items 501–600 of 1,087
Bloch, J., Bachoud‐Lévi, A., Déglon, N., Lefaucheur, J. P., Winkel, L., Palfi, S., Nguyen, J. P., Bourdet, C., Rémy, P., Brugières, P., et al. (2004) · Human Gene Therapy · doi:10.1089/hum.2004.15.968 · Cited by 231
Huntington's disease is a four-repeat tauopathy with tau nuclear rods
Fernández-Nogales, M., Cabrera, J. R., Santos-Galindo, M., Hoozemans, J. J. M., Ferrer, I., Rozemuller, A. J. M., Hernández, F., Avila, J., & Lucas, J. J. (2014) · Nature Medicine · doi:10.1038/nm.3617 · Cited by 231
Siew, J. J., Chen, H., Chen, H., Chen, H.-L., Chen, C., Soong, B., Wu, Y., Chang, C., Chan, Y., Lin, C., et al. (2019) · Nature Communications · doi:10.1038/s41467-019-11441-0 · Cited by 229
Huntington's disease: the challenge for cell biologists
Tobin, A. J., & Signer, E. R. (2000) · Trends in Cell Biology · doi:10.1016/s0962-8924(00)01853-5 · Cited by 230
Hermel, E., Gafni, J., Propp, S. S., Leavitt, B. R., Wellington, C. L., Young, J. E., Hackam, A. S., Logvinova, A. V., Peel, A. L., Chen, S. F., et al. (2004) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4401358 · Cited by 227
Chen, C., Wu, Y., Cheng, M., Liu, J., Lee, Y., Lee, P.-W., Soong, B., & Chiu, D. T.-Y. (2007) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2007.05.093 · Cited by 226
Dayalu, P., & Albin, R. L. (2014) · Neurologic Clinics · doi:10.1016/j.ncl.2014.09.003 · Cited by 243
Hansson, O., Petersén, Å., Leist, M., Nicotera, P., Castilho, R. F., & Brundin, P. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.15.8727 · Cited by 228
Chiu, C., & Chuang, D. (2010) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2010.07.006 · Cited by 232
Hickey, M. A., Kosmalska, A., Enayati, J., Cohen, R. E., Zeitlin, S. O., Levine, M. S., & Chesselet, M. ‐. (2008) · Neuroscience · doi:10.1016/j.neuroscience.2008.08.041 · Cited by 236
Inhibition of mitochondrial protein import by mutant huntingtin
Yano, H., Baranov, S. V., Baranova, O. V., Kim, J., Pan, Y., Yablonska, S., Carlisle, D. L., Ferrante, R. J., Kim, A. H., & Friedlander, R. M. (2014) · Nature Neuroscience · doi:10.1038/nn.3721 · Cited by 226
Juopperi, T. A., Kim, W. R., Chiang, C.-H., Yu, H., Margolis, R. L., Ross, C. A., Ming, G., & Song, H. (2012) · Molecular Brain · doi:10.1186/1756-6606-5-17 · Cited by 234
Huntingtin: an iron-regulated protein essential for normal nuclear and perinuclear organelles
Hilditch-Maguire, P. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.19.2789 · Cited by 226
Mastroberardino, P. G., Iannicola, C., Nardacci, R., Bernassola, F., Laurenzi, V. D., Melino, G., Moreno, S., Pavone, F., Oliverio, S., Fésüs, L., et al. (2002) · Cell Death and Differentiation · doi:10.1038/sj.cdd.4401093 · Cited by 226
Mutations in TITF-1 are associated with benign hereditary chorea
Breedveld, G. J. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.8.971 · Cited by 223
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
Early transcriptional profiles in huntingtin-inducible striatal cells by microarray analyses
Sipione, S., Rigamonti, D., Valenza, M., Zuccato, C., Conti, L., Pritchard, J., Kooperberg, C. L., Olson, J. M., & Cattaneo, E. F. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddu539 · Cited by 222
Kittler, 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 222
Effects of Panax ginseng in Neurodegenerative Diseases
Cho, I. (2012) · Journal of Ginseng Research · doi:10.5142/jgr.2012.36.4.342 · Cited by 225
Orellana, J. A., Sáez, P. J., Shoji, K. F., Schalper, K. A., Palacios‐Prado, N., Velarde, V., Giaume, C., Bennett, M. V. L., & Sáez, J. C. (2008) · Antioxidants and Redox Signaling · doi:10.1089/ars.2008.2130 · Cited by 228
Dı́az-Hernández, M., Diez-Zaera, M., Sánchez‐Nogueiro, J., Gómez‐Villafuertes, R., Canals, J. M., Alberch, J., Miras‐Portugal, M. T., & Lucas, J. J. (2009) · The FASEB Journal · doi:10.1096/fj.08-122275 · Cited by 228
Effects of overexpression of Huntingtin proteins on mitochondrial integrity
Wang, H., Lim, P. J., Karbowski, M., & Monteiro, M. J. (2008) · Human Molecular Genetics · doi:10.1093/hmg/ddn404 · Cited by 222
Clemente‐Suárez, V. J., Redondo-Flórez, L., Beltrán-Velasco, A. I., Ramos‐Campo, D. J., Belinchón-deMiguel, P., Martínez‐Guardado, I., Dalamitros, A. A., Sepulveda, R. A. Y., Martín-Rodríguez, A., & Tornero-Aguilera, J. F. (2023) · Biomedicines · doi:10.3390/biomedicines11092488 · Cited by 251
Experimental therapeutics in transgenic mouse models of Huntington's disease
Beal, M. F., & Ferrante, R. J. (2004) · Nature reviews. Neuroscience · doi:10.1038/nrn1386 · Cited by 227
Striatal and white matter predictors of estimated diagnosis for Huntington disease
Paulsen, J. S., Nopoulos, P., Aylward, E., Ross, C. A., Johnson, H. J., Magnotta, V. A., Juhl, A., Pierson, R. K., Mills, J. A., Langbehn, D. R., et al. (2010) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2010.04.003 · Cited by 223
PGC-1α, mitochondrial dysfunction, and Huntington's disease
Johri, A., Chandra, A., & Beal, M. F. (2013) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2013.04.016 · Cited by 227
Metformin therapy in a transgenic mouse model of Huntington's disease
Ma, T. C., Buescher, J. L., Oatis, B., Funk, J. A., Nash, A. J., Carrier, R. L., & Hoyt, K. R. (2006) · Neuroscience Letters · doi:10.1016/j.neulet.2006.10.039 · Cited by 224
Khoshnan, A., Ko, J., Watkin, E. E., Paige, L. A., Reinhart, P. H., & Patterson, P. H. (2004) · Journal of Neuroscience · doi:10.1523/jneurosci.2675-04.2004 · Cited by 223
Gu, X., Li, C., Wei, W., Lo, V., Gong, S., Li, S.-H., Iwasato, T., Itohara, S., Li, X., Módy, I., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.03.025 · Cited by 222
Human neural stem cells genetically modified for brain repair in neurological disorders
Kim, S. (2004) · Neuropathology (Kyoto. 1993) · doi:10.1111/j.1440-1789.2004.00552.x · Cited by 225
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
Self-citationTúnez, I., Tasset, I., de la Cruz, V. P., & Santamarı́a, A. (2010) · Molecules · doi:10.3390/molecules15020878 · Cited by 225
A novel protein with RNA-binding motifs interacts with ataxin-2
Shibata, H. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.9.1303 · Cited by 221
Menalled, L., Sison, J. D., Wu, Y. N., Olivieri, M., Li, X., Li, H., Zeitlin, S. O., & Chesselet, M. (2002) · Journal of Neuroscience · doi:10.1523/jneurosci.22-18-08266.2002 · Cited by 221
Energy deficit in Huntington disease: why it matters
Mochel, F., & Haller, R. G. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45691 · Cited by 220
Xu, X., Tay, Y., Sim, B., Yoon, S.-I., Huang, Y., Ooi, J., Utami, K. H., Ziaei, A., Ng, B., Radulescu, C. I., et al. (2017) · Stem Cell Reports · doi:10.1016/j.stemcr.2017.01.022 · Cited by 220
Molecular chaperones as modulators of polyglutamine protein aggregation and toxicity
Sakahira, H., Breuer, P., Hayer-Hartl, M. K., & Hartl, F. U. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.182426899 · Cited by 220
Firefly 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
Shelbourne, P., Keller-McGandy, C. E., Bi, W. L., Yoon, S., Dubeau, L., Veitch, N., Vonsattel, J. P., Wexler, N. S., Arnheim, N., & Augood, S. J. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm054 · Cited by 219
Parker, J. A., Connolly, J. B., Wellington, C. L., Hayden, M., Dausset, J., & Néri, C. (2001) · Proceedings of the National Academy of Sciences of the United States of America · doi:10.1073/pnas.231476398 · Cited by 242
Identifying polyglutamine protein species in situ that best predict neurodegeneration
Miller, J. M. L., Arrasate, M., Brooks, E., Libeu, C. P., Legleiter, J. A., Hatters, D. M., Curtis, J., Cheung, K., Krishnan, P., Mitra, S. S., et al. (2011) · Nature Chemical Biology · doi:10.1038/nchembio.694 · Cited by 220
Neuronal Apoptosis in Neurodegeneration
Okouchi, M., Ekshyyan, O. Y., Maracine, M., & Aw, T. Y. (2007) · Antioxidants and Redox Signaling · doi:10.1089/ars.2007.1511 · Cited by 222
Observing Huntington’s Disease: the European Huntington’s Disease Network’s REGISTRY
Orth, M., Handley, O., Schwenke, C., Dunnett, S. B., Craufurd, D., Ho, A. K., Wild, E. J., Tabrizi, S. J., & Landwehrmeyer, G. B. (2010) · PLoS Currents · doi:10.1371/currents.rrn1184 · Cited by 217
Sustained effects of nonallele‐specific Huntingtin silencing
Drouet, V., Perrin, V., Hässig, R., Dufour, N., Aurégan, G., Alves, S., Bonvento, G., Brouillet, E., Luthi‐Carter, R., Hantraye, P., et al. (2009) · Annals of Neurology · doi:10.1002/ana.21569 · Cited by 217
Sittler, A., Wälter, S., Wedemeyer, N., Hasenbank, R., Scherzinger, E., Eickhoff, H., Bates, G. P., Lehrach, H., & Wanker, E. E. (1998) · Molecular Cell · doi:10.1016/s1097-2765(00)80142-2 · Cited by 218
Mechanisms of Copper Ion Mediated Huntington's Disease Progression
Fox, J. H., Kama, J. A., Lieberman, G., Chopra, R., Dorsey, K., Chopra, V., Volitakis, I., Cherny, R. A., Bush, A. I., & Hersch, S. M. (2007) · PLoS ONE · doi:10.1371/journal.pone.0000334 · Cited by 220
Identities of Sequestered Proteins in Aggregates from Cells with Induced Polyglutamine Expression
Suhr, S. T., Senut, M., Whitelegge, J. P., Faull, K. F., Cuizon, D. B., & Gage, F. H. (2001) · The Journal of Cell Biology · doi:10.1083/jcb.153.2.283 · Cited by 216
Rapid evolution of the sex determining locus in Old World mice and rats
Tucker, P. K., & Lundrigan, B. L. (1993) · Nature · doi:10.1038/364715a0 · Cited by 216
Excitotoxic Neuronal Death and the Pathogenesis of Huntington's Disease
Estrada‐Sánchez, A. M., Mejía-Toiber, J., & Massieu, L. (2008) · Archives of Medical Research · doi:10.1016/j.arcmed.2007.11.011 · Cited by 213
Allele-selective transcriptional repression of mutant HTT for the treatment of Huntington’s disease
Zeitler, B., Froelich, S., Marlen, K., Shivak, D. A., Yu, Q., Li, D., Pearl, J. R., Miller, J. C., Zhang, L., Paschon, D. E., et al. (2019) · Nature Medicine · doi:10.1038/s41591-019-0478-3 · Cited by 213
Jauhari, A., Baranov, S. V., Suofu, Y., Kim, J., Singh, T., Yablonska, S., Li, F., Wang, X., Oberly, P. J., Minnigh, M. B., et al. (2020) · Journal of Clinical Investigation · doi:10.1172/jci135026 · Cited by 215
Human genetic diseases: a cross-talk between man and yeast
Foury, F. (1997) · Gene · doi:10.1016/s0378-1119(97)00140-6 · Cited by 222
Diagnostic criteria for Huntington's disease based on natural history
Reilmann, R., Leavitt, B. R., & Ross, C. A. (2014) · Movement Disorders · doi:10.1002/mds.26011 · Cited by 214
The Sirtuin 2 Inhibitor AK-7 Is Neuroprotective in Huntington’s Disease Mouse Models
Chopra, V., Quinti, L., Kim, J., Vollor, L., Narayanan, K. L., Edgerly, C. K., Cipicchio, P. M., Lauver, M. A., Choi, S. H., Silverman, R. B., et al. (2012) · Cell Reports · doi:10.1016/j.celrep.2012.11.001 · Cited by 214
Histone deacetylase inhibitors as therapeutics for polyglutamine disorders
Butler, R. K., & Bates, G. P. (2006) · Nature reviews. Neuroscience · doi:10.1038/nrn1989 · Cited by 215
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease
Handsaker, R. E., Kashin, S., Reed, N. M., Tan, S., Lee, W., McDonald, T. M., Morris, K., Kamitaki, N., Mullally, C. D., Morakabati, N. R., et al. (2025) · Cell · doi:10.1016/j.cell.2024.11.038 · Cited by 214
Is it time to change the reference genome?
Ballouz, S., Dobin, A., & Gillis, J. (2019) · Genome biology · doi:10.1186/s13059-019-1774-4 · Cited by 220
Gambetti, P. L., Parchi, P., Petersen, R. B., Chen, S. G., & Lugaresi, E. (1995) · Brain Pathology · doi:10.1111/j.1750-3639.1995.tb00576.x · Cited by 213
Carmichael, J., Chatellier, J., Woolfson, A., Milstein, C., Fersht, A. R., & Rubinsztein, D. C. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.170280697 · Cited by 213
Politis, M., Pavese, N., Tai, Y. F., Kiferle, L., Mason, S. L., Brooks, D. J., Tabrizi, S. J., Barker, R. A., & Piccini, P. (2011) · Human Brain Mapping · doi:10.1002/hbm.21008 · Cited by 212
Microbiome profiling reveals gut dysbiosis in a transgenic mouse model of Huntington's disease
Kong, G., Cao, K.-A. L., Judd, L. M., Li, S., Renoir, T., & Hannan, A. J. (2020) · Neurobiology of Disease · doi:10.1016/j.nbd.2018.09.001 · Cited by 212
Gene Therapy for Neurodegenerative Diseases
Sudhakar, V., & Richardson, R. M. (2019) · Neurotherapeutics · doi:10.1007/s13311-018-00694-0 · Cited by 212
Fu, J., Jin, J., Cichewicz, R. H., Hageman, S. A., Ellis, T. K., Xiang, L., Peng, Q., Jiang, M., Arbez, N., Hotaling, K., et al. (2012) · Journal of Biological Chemistry · doi:10.1074/jbc.m112.382226 · Cited by 213
Takano, H., Cancel‐Tassin, G., Ikeuchi, T., Lorenzetti, D., Mawad, R., Stévanin, G., Didierjean, O., Dürr, A., Oyake, M., Shimohata, T., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/302067 · Cited by 212
Li, J. Y., Popović, N., & Brundin, P. (2005) · NeuroRx · doi:10.1602/neurorx.2.3.447 · Cited by 221
Schmidt, T., Landwehrmeyer, G. B., Schmitt, I., Trottier, Y., Auburger, G. W. J., Laccone, F. A., Klockgether, T., Völpel, M., Epplen, J. T., Schöls, L. J., et al. (1998) · Brain Pathology · doi:10.1111/j.1750-3639.1998.tb00193.x · Cited by 211
Therapeutic applications of adipose cell-free derivatives: a review
Cai, Y., Li, J., Jia, C., He, Y., & Deng, C. (2020) · Stem Cell Research & Therapy · doi:10.1186/s13287-020-01831-3 · Cited by 214
Androgen Receptor Polymorphisms (CAG Repeat Lengths) in Androgenetic Alopecia, Hirsutism, and Acne
Sawaya, M. E., & Shalita, A. R. (1998) · Journal of Cutaneous Medicine and Surgery · doi:10.1177/120347549800300103 · Cited by 211
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Huntington disease models and human neuropathology: similarities and differences
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Transglutaminase 2 inhibitors and their therapeutic role in disease states
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Effects of curcumin on mitochondria in neurodegenerative diseases
Bagheri, H., Ghasemi, F., Barreto, G. E., Rafiee, R., Sathyapalan, T., & Sahebkar, A. (2019) · BioFactors · doi:10.1002/biof.1566 · Cited by 211
DNA variation and the future of human genetics
Schafer, A. J., & Hawkins, J. R. (1998) · Nature Biotechnology · doi:10.1038/nbt0198-33 · Cited by 210
Human genetic diseases due to codon reiteration: Relationship to an evolutionary mechanism
Green, H. (1993) · Cell · doi:10.1016/0092-8674(93)90718-6 · Cited by 210
Wu, Z., Parry, M. W., Hou, X.-Y., Liu, M., Wang, H., Cain, R. E., Pei, Z.-F., Chen, Y., Guo, Z.-Y., Sambangi, A., et al. (2020) · Nature Communications · doi:10.1038/s41467-020-14855-3 · Cited by 215
Benn, C., Sun, T., Sadri‐Vakili, G., McFarland, K. N., DiRocco, D. P., Yohrling, G. J., Clark, T. W., Bouzou, B., & Cha, J.-H. J. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.2126-08.2008 · Cited by 218
Huntington's disease: a synaptopathy?
Li, J., Plomann, M., & Brundin, P. (2003) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2003.08.006 · Cited by 208
Nimgampalle, M., Chakravarthy, H., Sharma, S., Shree, S., Bhat, A. R., Pradeepkiran, J. A., & Devanathan, V. (2023) · Ageing Research Reviews · doi:10.1016/j.arr.2023.101994 · Cited by 207
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
Celastrol protects against MPTP‐ and 3‐nitropropionic acid‐induced neurotoxicity
Cléren, C., Calingasan, N. Y., Chen, J., & Beal, M. F. (2005) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2005.03253.x · Cited by 207
Cell loss in the motor and cingulate cortex correlates with symptomatology in Huntington’s disease
Thu, D. C. V., Oorschot, D. E., Tippett, L. J., Nana, A. L., Hogg, V. M., Synek, B. J., Luthi‐Carter, R., Waldvogel, H. J., & Faull, R. L. M. (2010) · Brain · doi:10.1093/brain/awq047 · Cited by 213
Du, X., & Pang, T. Y. (2015) · Frontiers in Psychiatry · doi:10.3389/fpsyt.2015.00032 · Cited by 221
The role of noradrenaline in cognition and cognitive disorders
Holland, N., Robbins, T. W., & Rowe, J. B. (2021) · Brain · doi:10.1093/brain/awab111 · Cited by 216
Striatal D1 and D2 dopamine receptor loss in asymptomatic mutation carriers of Huntington's disease
Weeks, R. A., Piccini, P., Harding, A. E., & Brooks, D. J. (1996) · Annals of Neurology · doi:10.1002/ana.410400110 · Cited by 166
Li, H. (1999) · Human Molecular Genetics · doi:10.1093/hmg/8.7.1227 · Cited by 207
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
Biological Profiling of Gene Groups utilizing Gene Ontology
Blüthgen, N., Brand, K., Čajavec, B., Swat, M., Herzel, H., & Beule, D. (2004) · PubMed · doi:10.48550/arxiv.q-bio/0407034 · Cited by 206
Clinical Features of Huntington’s Disease
Ghosh, R., & Tabrizi, S. J. (2018) · Advances in experimental medicine and biology · doi:10.1007/978-3-319-71779-1_1 · Cited by 207
Wang, N., Gray, M., Lu, X., Cantle, J. P., Holley, S. M., Greiner, E. R., Gu, X., Shirasaki, D., Cepeda, C., Li, Y., et al. (2014) · Nature Medicine · doi:10.1038/nm.3514 · Cited by 205
Goddard, K. A. B., Hopkins, P. J., Hall, J., & Witte, J. S. (2000) · The American Journal of Human Genetics · doi:10.1086/302727 · Cited by 206
Huntington's disease progression
Andrews, T. C., Weeks, R. A., Turjanski, N., Gunn, R. N., Watkins, L. H. A., Sahakian, B., Hodges, J. R., Rosser, A. E., Wood, N. W., & Brooks, D. J. (1999) · Brain · doi:10.1093/brain/122.12.2353 · Cited by 169
Kinase inhibitors modulate huntingtin cell localization and toxicity
Atwal, R. S., Desmond, C. R., Caron, N., Maiuri, T., Xia, J., Sipione, S., & Truant, R. (2011) · Nature Chemical Biology · doi:10.1038/nchembio.582 · Cited by 204
Chidambaram, S. B., Essa, M. M., Rathipriya, A. G., Bishir, M., Ray, B., Mahalakshmi, A. M., Tousif, A. H., Sakharkar, M. K., Kashyap, R. S., Friedland, R. P., et al. (2022) · Pharmacology & Therapeutics · doi:10.1016/j.pharmthera.2021.107988 · Cited by 204
The biosynthesis, signaling, and neurological functions of bile acids
Kiriyama, Y., & Nochi, H. (2019) · Biomolecules · doi:10.3390/biom9060232 · Cited by 204
Clinical markers of early disease in persons near onset of Huntington’s disease
Paulsen, J. S., Zhao, H., Stout, J. C., Brinkman, R. R., Guttman, M., Ross, C. A., Como, P. G., Manning, C. A., Hayden, M. R., Shoulson, I., et al. (2001) · Neurology · doi:10.1212/wnl.57.4.658 · Cited by 204
Rilmenidine attenuates toxicity of polyglutamine expansions in a mouse model of Huntington's disease
Rose, C., Menzies, F. M., Renna, M., Acevedo‐Arozena, A., Corrochano, S., Sadiq, O., Brown, S. D. M., & Rubinsztein, D. C. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq093 · Cited by 202
Glutamine repeats and inherited neurodegenerative diseases: molecular aspects
Perutz, M. F. (1996) · Current Opinion in Structural Biology · doi:10.1016/s0959-440x(96)80016-9 · Cited by 204
C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies
Hensman Moss, D. J., Poulter, M., Beck, J., Hehir, J., Polke, J. M., Campbell, T., Adamson, G., Mudanohwo, E., McColgan, P., Haworth, A., et al. (2014) · Neurology · doi:10.1212/wnl.0000000000000061 · Cited by 203
Mitochondria in Neurodegeneration
Lezi, E., & Swerdlow, R. H. (2011) · Advances in experimental medicine and biology · doi:10.1007/978-94-007-2869-1_12 · Cited by 213
Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course
Squitieri, F. (2003) · Brain · doi:10.1093/brain/awg077 · Cited by 203
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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