The DOI matches its Crossref record, with a small difference in title or year; 59 of the 60 references it cites were found in a registry or an index.
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
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?
The source backs part of the claim, not all of it — or backs it for a different population, condition or comparison.
In the citing paper
“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.
In the citing paper
“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]
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
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
Flagged first, then by citations
1 of the 60 references couldn’t be matched to a known paper.
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 101–200 of 1,087
Mitochondria in health, disease, and aging
Harrington, J. S., Ryter, S. W., Plataki, M. E., Price, D. R., & Choi, A. M. K. (2023) · Physiological Reviews · doi:10.1152/physrev.00058.2021 · Cited by 641
Dominant phenotypes produced by the HD mutation in STHdhQ111 striatal cells
Trettel, F. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.19.2799 · Cited by 614
Arendt, T., Stieler, J. T., & Holzer, M. (2016) · Brain Research Bulletin · doi:10.1016/j.brainresbull.2016.08.018 · Cited by 609
Tabrizi, S. J., Scahill, R. I., Dürr, A., Roos, R. A. C., Leavitt, B. R., Jones, R., Landwehrmeyer, G. B., Fox, N. C., Johnson, H. J., Hicks, S. L., et al. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70276-3 · Cited by 597
Evidence for apoptotic cell death in Huntington disease and excitotoxic animal models
Portera‐Cailliau, C., Hedreen, J. C., Price, D., & Koliatsos, V. (1995) · Journal of Neuroscience · doi:10.1523/jneurosci.15-05-03775.1995 · Cited by 607
The Role of Excitotoxicity in Neurodegenerative Disease
Doble, A. (1999) · Pharmacology & Therapeutics · doi:10.1016/s0163-7258(98)00042-4 · Cited by 723
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
Kremer, 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
HEAT repeats in the Huntington's disease protein
Andrade-Navarro, M. A., & Peer Bork, B. (1995) · Nature Genetics · doi:10.1038/ng1095-115 · Cited by 601
Zeron, M. M., Hansson, O., Chen, N., Wellington, C. L., Leavitt, B. R., Brundin, P., Hayden, M. R., & Raymond, L. A. (2002) · Neuron · doi:10.1016/s0896-6273(02)00615-3 · Cited by 600
SCA1 transgenic mice: A model for neurodegeneration caused by an expanded CAG trinucleotide repeat
Burright, E. N., Clark, H. B., Servadio, A., Matilla‐Dueñas, A., Feddersen, R. M., Yunis, W. S., Duvick, L. A., Zoghbi, H. Y., & Orr, H. T. (1995) · Cell · doi:10.1016/0092-8674(95)90273-2 · Cited by 596
Goldberg, Y. P., Nicholson, D. W., Rasper, D., Kalchman, M. A., Koide, H., Graham, R. K., Bromm, M., Kazemi‐Esfarjani, P., Thornberry, N. A., Vaillancourt, J. P., et al. (1996) · Nature Genetics · doi:10.1038/ng0896-442 · Cited by 584
Expression of Sry , the mouse sex determining gene
Hacker, A., Capel, B., Goodfellow, P. N., & Lovell-Badge, R. H. (1995) · Development · doi:10.1242/dev.121.6.1603 · Cited by 571
Weydt, P., Pineda, V. V., Torrence, A. E., Libby, R. T., Satterfield, T. F., Lazarowski, E. R., Gilbert, M. L., Morton, G. J., Bammler, T. K., Strand, A. D., et al. (2006) · Cell Metabolism · doi:10.1016/j.cmet.2006.10.004 · Cited by 562
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 568
Antisense Oligonucleotides: An Emerging Area in Drug Discovery and Development
Dhuri, K., Bechtold, C., Quijano, E., Pham, H. T. T., Gupta, A., Vikram, A., & Bahal, R. (2020) · Journal of Clinical Medicine · doi:10.3390/jcm9062004 · Cited by 586
Horie, N., Aiba, H., Oguro, K., Hojo, H., & Takeishi, K. (1995) · Cell Structure and Function · doi:10.1247/csf.20.191 · Cited by 547
Krobitsch, S., & Lindquist, S. L. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.97.4.1589 · Cited by 546
Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities
Tabrizi, S. J., Flower, M. D., Ross, C. A., & Wild, E. J. (2020) · Nature Reviews Neurology · doi:10.1038/s41582-020-0389-4 · Cited by 568
Expanded polyglutamine in the Machado–Joseph disease protein induces cell death in vitro and in vivo
Ikeda, H. O., Yamaguchi, M., Sugai, S., Aze, Y., Narumiya, S., & Kakizuka, A. (1996) · Nature Genetics · doi:10.1038/ng0696-196 · Cited by 545
The hunt for huntingtin function: interaction partners tell many different stories
Harjes, P., & Wanker, E. E. (2003) · Trends in Biochemical Sciences · doi:10.1016/s0968-0004(03)00168-3 · Cited by 562
The DISC locus in psychiatric illness
Chubb, J. E., Bradshaw, N. J., Soares, D. C., Porteous, D. J., & Millar, J. K. (2008) · Molecular Psychiatry · doi:10.1038/sj.mp.4002106 · Cited by 542
Evidence for assembly of prions with left-handed β-helices into trimers
Govaerts, C., Wille, H., Prusiner, S. B., & Cohen, F. E. (2004) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0402254101 · Cited by 540
Menalled, L., Sison, J. D., Dragatsis, I., Zeitlin, S. O., & Chesselet, M. (2003) · The Journal of Comparative Neurology · doi:10.1002/cne.10776 · Cited by 528
White, J. K., Auerbach, W., Duyao, M. P., Vonsattel, J., Gusella, J. F., Joyner, A. L., & MacDonald, M. E. (1997) · Nature Genetics · doi:10.1038/ng1297-404 · Cited by 536
Self-citationJackson, G. R., Salecker, I., Dong, X., Yao, X., Arnheim, N., Faber, P. W., MacDonald, M. E., & Zipursky, S. L. (1998) · Neuron · doi:10.1016/s0896-6273(00)80573-5 · Cited by 535
Self-citationGlass, M., Dragunow, M., & Faull, R. L. M. (2000) · Neuroscience · doi:10.1016/s0306-4522(00)00008-7 · Cited by 483
Lipopolysaccharide-induced neuroinflammation as a bridge to understand neurodegeneration
Batista, C. R. A., Gomes, G. F., Candelario-Jalil, E., Fiebich, B. L., & de Oliveira, A. C. P. (2019) · International Journal of Molecular Sciences · doi:10.3390/ijms20092293 · Cited by 529
Huntingtin aggregation and toxicity in Huntington's disease
Bates, G. P. (2003) · The Lancet · doi:10.1016/s0140-6736(03)13304-1 · Cited by 526
Neuroprotective Effects of Creatine in a Transgenic Mouse Model of Huntington's Disease
Ferrante, R. J., Andreassen, O. A., Jenkins, B. G., Dedeoglu, A., Kuemmerle, S., Kubilus, J. K., Kaddurah-Daouk, R., Hersch, S. M., & Beal, M. F. (2000) · The Journal of Neuroscience · doi:10.1523/jneurosci.20-12-04389.2000 · Cited by 522
Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation
Knight, S. J. L., Flannery, A., Hirst, M. C., Campbell, L. J., Christodoulou, Z., Phelps, S., Pointon, J. J., Middleton-Price, H. R., Barnicoat, A. J., Pembrey, M. E., et al. (1993) · Cell · doi:10.1016/0092-8674(93)90300-f · Cited by 519
Choo, Y. S. (2004) · Human Molecular Genetics · doi:10.1093/hmg/ddh162 · Cited by 515
Widespread 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 516
Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic StrategiesPreprint
Jiménez-Sánchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C. (2016) · Cold Spring Harbor Perspectives in Medicine · doi:10.1101/cshperspect.a024240 · Cited by 534
Delaying the onset of Huntington's in mice
van Dellen, A., Blakemore, C., Deacon, R., York, D. F., & Hannan, A. (2000) · Nature · doi:10.1038/35008142 · Cited by 499
Resequencing and mutational analysis using oligonucleotide microarrays
Hacia, J. G. (1999) · Nature Genetics · doi:10.1038/4469 · Cited by 510
Oxidative stress in Huntington’s disease
Browne, S. E., Ferrante, R. J., & Beal, M. F. (1999) · Brain Pathology · doi:10.1111/j.1750-3639.1999.tb00216.x · Cited by 508
Towards a transgenic model of Huntington’s disease in a non-human primate
Yang, S., Cheng, P., Banta, H., Piotrowska-Nitsche, K., Yang, J.-J., Cheng, E., Snyder, B. R., Larkin, K., Liu, J., Orkin, J., et al. (2008) · Nature · doi:10.1038/nature06975 · Cited by 508
Pivotal role of oligomerization in expanded polyglutamine neurodegenerative disorders
Sánchez, I., Mahlke, C., & Yuan, J. (2003) · Nature · doi:10.1038/nature01301 · Cited by 504
Cha, J.-H. J., Kosinski, C. M., Kerner, J. A., Alsdorf, S. A., Mangiarini, L., Davies, S. W., Penney, J. B., Bates, G. P., & Young, A. B. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.11.6480 · Cited by 504
Global changes to the ubiquitin system in Huntington's disease
Bennett, E. J., Shaler, T. A., Woodman, B., Ryu, K.-Y., Zaitseva, T. S., Becker, C. H., Bates, G. P., Schulman, H., & Kopito, R. R. (2007) · Nature · doi:10.1038/nature06022 · Cited by 497
A Unifying Role for Prions in Neurodegenerative Diseases
Prusiner, S. B. (2012) · Science · doi:10.1126/science.1222951 · Cited by 507
The HD iPSC Consortium (2012) · Cell stem cell · doi:10.1016/j.stem.2012.04.027 · Cited by 493
Complex gene conversion events in germline mutation at human minisatellites
Jeffreys, A. J., Tamaki, K., MacLeod, A., Monckton, D. G., Neil, D. L., & Armour, J. A. L. (1994) · Nature Genetics · doi:10.1038/ng0294-136 · Cited by 490
Neuropsychiatric aspects of Huntington’s disease.
Paulsen, J. S. (2001) · Journal of Neurology, Neurosurgery & Psychiatry · doi:10.1136/jnnp.71.3.310 · Cited by 486
Martindale, D., Hackam, A. S., Wieczorek, A. S., Ellerby, L., Wellington, C. L., McCutcheon, K. M., Singaraja, R. R., Kazemi‐Esfarjani, P., Devon, R. M., Kim, S. U., et al. (1998) · Nature Genetics · doi:10.1038/ng0298-150 · Cited by 486
p53 Mediates Cellular Dysfunction and Behavioral Abnormalities in Huntington’s Disease
Bae, B.-I., Xu, H., Igarashi, S., Fujimuro, M., Agrawal, N., Taya, Y., Hayward, S. D., Moran, T. H., Montell, C., Ross, C. A., et al. (2005) · Neuron · doi:10.1016/j.neuron.2005.06.005 · Cited by 495
Tang, T.-S., Tu, H., Chan, E. Y. W., Maximov, A., Wang, Z., Wellington, C. L., Hayden, M. R., & Борисович, Б. И. (2003) · Neuron · doi:10.1016/s0896-6273(03)00366-0 · Cited by 487
The Role of Inflammation in the Pathogenesis of Age-related Macular Degeneration
Donoso, L. A., Kim, D. S., Frost, A. T., Callahan, A., & Hageman, G. S. (2006) · Survey of Ophthalmology · doi:10.1016/j.survophthal.2005.12.001 · Cited by 486
Exosome-mediated delivery of hydrophobically modified siRNA for huntingtin mRNA silencing
Didiot, M.-C., Hall, L. M., Coles, A. H., Haraszti, R. A., Godinho, B. M., Chase, K., Sapp, E., Ly, S., Alterman, J. F., Hassler, M. R., et al. (2016) · Molecular Therapy · doi:10.1038/mt.2016.126 · Cited by 483
Dopamine receptors: Molecular biology, biochemistry and behavioural aspects
Jackson, D. M., & Westlind‐Danielsson, A. (1994) · Pharmacology & Therapeutics · doi:10.1016/0163-7258(94)90041-8 · Cited by 500
Replication fork stalling at natural impediments
Mirkin, E. V., & Mirkin, S. M. (2007) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00030-06 · Cited by 482
Chung, M., Ranum, L. P. W., Duvick, L. A., Servadio, A., Zoghbi, H. Y., & Orr, H. T. (1993) · Nature Genetics · doi:10.1038/ng1193-254 · Cited by 477
Mechanisms of neurodegeneration in Huntington’s disease
Gil‐Mohapel, J., & Rego, A. C. (2008) · European Journal of Neuroscience · doi:10.1111/j.1460-9568.2008.06310.x · Cited by 497
Energetics in the pathogenesis of neurodegenerative diseases
Beal, M. F. (2000) · Trends in Neurosciences · doi:10.1016/s0166-2236(00)01584-8 · Cited by 475
Clinical utility and prospective of TMS–EEG
Tremblay, S., Rogasch, N. C., Premoli, I., Blumberger, D. M., Casarotto, S., Chen, R., Di Lazzaro, V., Farzan, F., Ferrarelli, F., Fitzgerald, P. B., et al. (2019) · Clinical Neurophysiology · doi:10.1016/j.clinph.2019.01.001 · Cited by 472
Ideal homes? Housing effects on rodent brain and behaviour
Würbel, H. (2001) · Trends in Neurosciences · doi:10.1016/s0166-2236(00)01718-5 · Cited by 471
Wheeler, V. C. (2000) · Human Molecular Genetics · doi:10.1093/hmg/9.4.503 · Cited by 477
Menalled, L., Kudwa, A. E., Miller, S., Fitzpatrick, J., Watson-Johnson, J., Keating, N., Ruiz, M. C., Mushlin, R. A., Alosio, W., McConnell, K., et al. (2012) · PLoS ONE · doi:10.1371/journal.pone.0049838 · Cited by 470
Re-emergence of striatal cholinergic interneurons in movement disorders
Pisani, A., Bernardi, G., Ding, J., & Surmeier, D. J. (2007) · Trends in Neurosciences · doi:10.1016/j.tins.2007.07.008 · Cited by 474
Regulation of proteasome activity in health and disease
Schmidt, M., & Finley, D. J. (2013) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2013.08.012 · Cited by 480
The Fetal Matrix: Evolution, Development and Disease
Gluckman, P., & Hanson, M. (2004) · doi:10.1017/cbo9781139106955 · Cited by 460
Pluripotent stem cells in regenerative medicine: challenges and recent progress
Tabar, V. S., & Studer, L. (2014) · Nature Reviews Genetics · doi:10.1038/nrg3563 · Cited by 467
The propagation of prion-like protein inclusions in neurodegenerative diseases
Goedert, M., Clavaguera, F., & Tolnay, M. (2010) · Trends in Neurosciences · doi:10.1016/j.tins.2010.04.003 · Cited by 472
Biology and Genetics of Prions Causing Neurodegeneration
Prusiner, S. B. (2013) · Annual Review of Genetics · doi:10.1146/annurev-genet-110711-155524 · Cited by 455
Jana, N. R. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.10.1049 · Cited by 453
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
Cytoplasmic dynein and dynactin in cell division and intracellular transport
Karki, S., & Holzbaur, E. L. F. (1999) · Current Opinion in Cell Biology · doi:10.1016/s0955-0674(99)80006-4 · Cited by 450
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446
Viral Vectors for Gene Therapy: Translational and Clinical Outlook
Kotterman, M. A., Chalberg, T. W., & Schaffer, D. V. (2015) · Annual Review of Biomedical Engineering · doi:10.1146/annurev-bioeng-071813-104938 · Cited by 424
Kazantsev, A. G., Preisinger, E., Dranovsky, A., Goldgaber, D., & Housman, D. E. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.20.11404 · Cited by 444
Tsunemi, T., Ashe, T. D., Morrison, B. E., Epilepsia, K. S., Au, J., Vázquez‐Roque, R. A., Lazarowski, E. R., Damian, V. A., Masliah, E., & Spada, A. R. L. (2012) · Science Translational Medicine · doi:10.1126/scitranslmed.3003799 · Cited by 456
Microglial activation in presymptomatic Huntington's disease gene carriers
Tai, Y. F., Pavese, N., Gerhard, A., Tabrizi, S. J., Barker, R. A., Brooks, D. J., & Piccini, P. (2007) · Brain · doi:10.1093/brain/awm044 · Cited by 440
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 440
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
Okamoto, S., Pouladi, M. A., Talantova, M. V., Yao, D., Xia, P., Ehrnhoefer, D. E., Zaidi, R., Clemente, A., Kaul, M., Graham, R. K., et al. (2009) · Nature Medicine · doi:10.1038/nm.2056 · Cited by 449
Oxidative stress and mitochondrial dysfunction in neurodegenerative diseases
Trushina, E. V., & McMurray, C. T. (2007) · Neuroscience · doi:10.1016/j.neuroscience.2006.10.056 · Cited by 451
Bêcher, M. W., Kotzuk, J. A., Sharp, A. H., Davies, S. W., Bates, G. P., Price, D. L., & Ross, C. A. (1998) · Neurobiology of Disease · doi:10.1006/nbdi.1998.0168 · Cited by 434
N-Terminal Mutant Huntingtin Associates with Mitochondria and Impairs Mitochondrial Trafficking
Orr, A. L., Li, S., Wang, C.-E., Li, H., Wang, J., Rong, J., Xu, X., Mastroberardino, P. G., Greenamyre, J. T., & Li, X. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0106-08.2008 · Cited by 429
de Vries, H. E., Witte, M. E., Hondius, D., Rozemüller, A. J. M., Drukarch, B., Hoozemans, J. J. M., & van Horssen, J. (2008) · Free Radical Biology and Medicine · doi:10.1016/j.freeradbiomed.2008.09.001 · Cited by 436
Huntingtin and DRPLA proteins selectively interact with the enzyme GAPDH
Burke, J. R., Enghild, J. J., Martin, M. E., Jou, Y., Myers, R., Roses, A. D., Vance, J. M., & Strittmatter, W. J. (1996) · Nature Medicine · doi:10.1038/nm0396-347 · Cited by 430
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
Depienne, C., & Mandel, J.-L. (2021) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2021.03.011 · Cited by 429
CpG and non-CpG methylation in epigenetic gene regulation and brain function
Jang, H., Shin, W., Lee, J., & Do, J. (2017) · Genes · doi:10.3390/genes8060148 · Cited by 427
Stem cell‐based cell therapy in neurological diseases: A review
Kim, S. U., & de Vellis, J. (2009) · Journal of Neuroscience Research · doi:10.1002/jnr.22054 · Cited by 433
Paulson, H. L. (2018) · Handbook of clinical neurology · doi:10.1016/b978-0-444-63233-3.00009-9 · Cited by 426
Huntingtin functions as a scaffold for selective macroautophagy
Rui, Y.-N., Xu, Z., Patel, B., Chen, Z., Chen, D., Tito, A., David, G., Sun, Y., Stimming, E. F., Bellen, H. J., et al. (2015) · Nature Cell Biology · doi:10.1038/ncb3101 · Cited by 423
Yeast Genes That Enhance the Toxicity of a Mutant Huntingtin Fragment or α-Synuclein
Willingham, S., Outeiro, T. F., DeVit, M. J., Lindquist, S. L., & Muchowski, P. J. (2003) · Science · doi:10.1126/science.1090389 · Cited by 422
Adenosine receptors and brain diseases: neuroprotection and neurodegeneration
Gomes, C. V., Kaster, M. P., Tomé, A. R., Agostinho, P. M., & Cunha, R. A. (2011) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2010.12.001 · Cited by 419
Molecular Basis of the Neurodegenerative Disorders
Martin, J. B. (1999) · New England Journal of Medicine · doi:10.1056/nejm199906243402507 · Cited by 422
Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues
Strong, T. V., Tagle, D. A., Valdes, J. M., Elmer, L. W., Boehm, K., Swaroop, M., Kaatz, K. W., Collins, F. S., & Albin, R. L. (1993) · Nature Genetics · doi:10.1038/ng1193-259 · Cited by 417
DiFiglia, M., Sena‐Esteves, M., Chase, K. O., Sapp, E., Pfister, E., Sass, M., Yoder, J., Reeves, P., Pandey, R. K., Rajeev, K. G., et al. (2007) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0708285104 · Cited by 433
Ehrnhoefer, D. E., Duennwald, M. L., Markovic, P., Wacker, J. L., Engemann, S., Roark, M., Legleiter, J. A., Marsh, J., Thompson, L. M., Lindquist, S. L., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl210 · Cited by 417
MANLEY, K. M., Shirley, T. L., Flaherty, L. A., & Messer, A. C. (1999) · Nature Genetics · doi:10.1038/70598 · Cited by 415
N-Methyl-d-aspartate (NMDA) receptor function and excitotoxicity in Huntington's disease
FAN, M., & Raymond, L. A. (2006) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2006.11.003 · Cited by 410
Replicating Huntington's disease phenotype in experimental animals
Brouillet, E. (1999) · Progress in Neurobiology · doi:10.1016/s0301-0082(99)00005-2 · Cited by 421
Caspase-8 Is Required for Cell Death Induced by Expanded Polyglutamine Repeats
Sánchez, I., Xu, C., Juo, P., Kakizaka, A., Blenis, J., & Yuan, J. (1999) · Neuron · doi:10.1016/s0896-6273(00)80716-3 · Cited by 412
Huntington's disease: from pathology and genetics to potential therapies
Imarisio, S., Carmichael, J., Korolchuk, V., Chen, C.-W., Saiki, S., Rose, C., Krishna, G., Davies, J. E., Ttofi, E., Underwood, B. R., et al. (2008) · Biochemical Journal · doi:10.1042/bj20071619 · Cited by 409
Cystathionine γ-lyase deficiency mediates neurodegeneration in Huntington’s disease
Paul, B. D., Sbodio, J. I., Xu, R., Vandiver, M. S., Cha, J. Y., Snowman, A. M., & Snyder, S. H. (2014) · Nature · doi:10.1038/nature13136 · Cited by 407
Onset and rate of striatal atrophy in preclinical Huntington disease
Aylward, E., Sparks, B. F., Field, K. M., Yallapragada, V., Shpritz, B., Rosenblatt, A., Brandt, J., Gourley, L. M., Liang, K., Zhou, H., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000132965.14653.d1 · Cited by 400
Effect of Deutetrabenazine on Chorea Among Patients With Huntington Disease
Huntington Study Group, Frank, S., Testa, C. M., Stamler, D. A., Kayson, E., Davis, C. S., Edmondson, M. C., Kinel, S., Leavitt, B. R., Oakes, D., et al. (2016) · JAMA · doi:10.1001/jama.2016.8655 · Cited by 417
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
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
