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 trinucleotide repeats in the HTT gene on chromosome 4p16.3, leading to production of a dysfunctional huntingtin protein (polyQ-HTT).
“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]
The Introduction identifies an expanded CAG repeat in IT15 on HD chromosomes, and the paper places the gene in chromosome 4p16.3. The Discussion names its protein product huntingtin, but says the expansion most likely acts at either the mRNA or protein level; it does not establish that HD results specifically from production of a dysfunctional polyQ-huntingtin protein. Page numbers are not provided in our copy. (LLM, conf=0.89)
Experimental — accuracy not yet measuredHuntington's disease is usually confirmed by identification of 36 or more CAG repeats on chromosome 4p16.3 in the Huntingtin gene.
“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]
The Results (page unavailable) locate the expanded CAG repeat in the gene the Discussion names huntingtin, in the chromosome 4p16.3 region. They support identifying an expanded repeat as a marker of HD, but not the claimed diagnostic cutoff of 36: the HD-specific products studied ranged from 42 to more than 66 repeats, and an unaffected relative had approximately 36. (LLM, conf=0.89)
Experimental — accuracy not yet measuredHD 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.
“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]
The Introduction and Abstract (page numbers unavailable) describe autosomal-dominant HD and an expanded CAG repeat in IT15, the gene whose protein the Discussion names huntingtin. But the Discussion says the repeat most likely causes HD through effects at the mRNA or protein level and identifies the mechanism of neuronal damage as unresolved. Our copy does not establish exon 1 as the repeat’s location, protein aggregation as the mechanism, or the claim’s unqualified ‘entirely due to’ wording. (LLM, conf=0.90)
Experimental — accuracy not yet measuredThe cause of Huntington's disease is an abnormal expansion of CAG triplet repeats in exon 1 of the HTT gene, resulting in an elongated polyglutamine tract in mutant huntingtin protein.
“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 Huntington disease, poly-glutamine-expanded mHTT aggregates and accumulates.
“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]
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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 · see citing works
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 · see citing works
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 · see citing works
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 · 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
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 · 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
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 · 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
A point mutation in the FMR-1 gene associated with fragile X mental retardation
Boulle, K. D., Verkerk, A. J. M. H., Reyniers, E., Vits, L., Hendrickx, J., Roy, B. V., Bos, F. V. D., de Graaff, E., Oostra, B. A., & Willems, P. J. (1993) · Nature Genetics · doi:10.1038/ng0193-31 · Cited by 624 · 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
Stipe, J., White, D., & Arsdale, E. V. (1979) · AJN American Journal of Nursing · doi:10.2307/3424618 · Cited by 602 · 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
Cloning 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
Exon amplification: a strategy to isolate mammalian genes based on RNA splicing.
Buckler, A., Chang, D. D., Graw, S. L., Brook, J. D., Haber, D. A., Sharp, P. A., & Housman, D. E. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.9.4005 · Cited by 419 · 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
Homozygotes 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
Tsilfidis, 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
The epidemiology of Huntington's disease
Harper, P. S. (1992) · Human Genetics · doi:10.1007/bf00194305 · Cited by 329 · 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
Nižetić, D., Zehetner, G., Monaco, A. P., Gellen, L. S., Young, B. D., & Lehrach, H. R. (1991) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.88.8.3233 · Cited by 158 · 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-citationOudet, C. L., Mornet, É., Serre, J. L., Thomas, F., Lentes, S., Kretz, C., Deluchat, C., Tejada, I., Boué, J. G., & Boué, A. (1993) · Europe PMC (PubMed Central) · Cited by 129 · see citing works
DNA Markers for Nervous System Diseases
Gusella, J. F., Tanzi, R. E., Anderson, M. A., Hobbs, W., Gibbons, K., Raschtchian, R., Gilliam, T. C., Wallace, M. R., Wexler, N. S., & Conneally, P. M. (1984) · Science · doi:10.1126/science.6089346 · Cited by 128 · see citing works
Moderate 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
Thompson, L. M., Plummer, S. J., Schalling, M., Altherr, M. R., Gusella, J. F., Housman, D. E., & Wasmuth, J. J. (1991) · Genomics · doi:10.1016/0888-7543(91)90041-c · Cited by 116 · see citing works
Gusella, J. F., & MacDonald, M. E. (1995) · Seminars in Cell Biology · doi:10.1016/1043-4682(95)90011-x · Cited by 93 · see citing works
Self-citationHarley, H. G., Brook, J. D., Floyd, J. L., Rundle, S. A., Crow, S., Walsh, K. V., Thibault, M. C., Harper, P. S., & Shaw, D. J. (1991) · PubMed · Cited by 92 · 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
Ethnic distribution of myotonic dystrophy gene
Ashizawa, T., & Epstein, H. F. (1991) · The Lancet · doi:10.1016/0140-6736(91)90659-d · Cited by 91 · see citing works
Reverse 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
Physical maps of 4p16.3, the area expected to contain the Huntington disease mutation
Bućan, M., Zimmer, M., Whaley, W. L., Poustka, A., Youngman, S., Allitto, B. A., Ormondroyd, E., Smith, B., Pohl, T., MacDonald, M. E., et al. (1990) · Genomics · doi:10.1016/0888-7543(90)90442-w · Cited by 82 · see citing works
Self-citationLinkage disequilibrium in Huntington's disease: an improved localisation for the gene.
Snell, R. G., Lazarou, L., Youngman, S., Quarrell, O. W. J., Wasmuth, J. J., Shaw, D. J., & Harper, P. S. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.11.673 · Cited by 78 · see citing works
Theilmann, J., Kanani, S., Shiang, R., Robbins, C., Quarrell, O. W. J., Huggins, M. J., Hedrick, A., Weber, B. H. F., Collins, C. C., & Wasmuth, J. J. (1989) · Journal of Medical Genetics · doi:10.1136/jmg.26.11.676 · Cited by 77 · see citing works
Pohl, T., Zimmer, M., MacDonald, M. E., Smith, B. A., Bućan, M., Poustka, A., Volinia, S., Searle, S., Zehetner, G., Wasmuth, J. J., et al. (1988) · Nucleic Acids Research · doi:10.1093/nar/16.19.9185 · Cited by 74 · see citing works
Self-citationDefined physical limits of the Huntington disease gene candidate region.
Bates, G. P., MacDonald, M. E., Baxendale, S., Youngman, S., Lin, C., Whaley, W. L., Wasmuth, J. J., Gusella, J. F., & Lehrach, H. R. (1991) · PubMed · Cited by 71 · see citing works
Self-citationComplex patterns of linkage disequilibrium in the Huntington disease region.
MacDonald, M. E., Lin, C., Srinidhi, L., Bates, G. P., Altherr, M. R., Whaley, W. L., Lehrach, H. R., Wasmuth, J. J., & Gusella, J. F. (1991) · PubMed · Cited by 71 · see citing works
Self-citationBates, G. P., Valdes, J. J. P., Hummerich, H., Baxendale, S., Paslier, D. L., Monaco, A. P., Tagle, D. A., MacDonald, M. E., Altherr, M. R., Ross, M. T., et al. (1992) · Nature Genetics · doi:10.1038/ng0692-180 · Cited by 63 · see citing works
Self-citationBates, G. P., MacDonald, M. E., Baxendale, S., Sedláček, Z., Youngman, S., Romano, D., Whaley, W. L., Allitto, B. A., Poustka, A., & Gusella, J. F. (1990) · PubMed · Cited by 62 · 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
Clustering of multiallele DNA markers near the Huntington's disease gene.
MacDonald, M. E., Cheng, S. V., Zimmer, M., Haines, J. L., Poustka, A., Allitto, B. A., Smith, B. A., Whaley, W. L., Romano, D., & Jagadeesh, J. (1989) · Journal of Clinical Investigation · doi:10.1172/jci114222 · Cited by 53 · see citing works
Self-citationIncreased recombination adjacent to the Huntington disease-linked D4S10 marker
Allitto, B. A., MacDonald, M. E., Bućan, M., Richards, J. E., Romano, D., Whaley, W. L., Falcone, B., Iannazzi, J. A., Wexler, N. S., Wasmuth, J. J., et al. (1991) · Genomics · doi:10.1016/0888-7543(91)90226-5 · Cited by 51 · 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
The genomic structure of the human skeletal muscle sodium channel gene
McClatchey, A. I., S.Lin, C., Wang, J., Hoffman, E. P., Rojas, C., & Gusella, J. F. (1992) · Human Molecular Genetics · doi:10.1093/hmg/1.7.521 · Cited by 47 · see citing works
Mapping of cosmid clones in Huntington's disease region of chromosome 4
Whaley, W. L., Bates, G. P., Novelletto, A., Sedláček, Z., Cheng, S. V., Romano, D., Ormondroyd, E., Allitto, B. A., Lin, C., Youngman, S., et al. (1991) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233207 · Cited by 46 · see citing works
Self-citationTaylor, S. A. M., Snell, R. G., Buckler, A., Ambrose, C., Duyao, M. P., Church, D. M., Lin, C., Altherr, M. R., Bates, G. P., de Groot, N. G., et al. (1992) · Nature Genetics · doi:10.1038/ng1192-223 · Cited by 39 · see citing works
Self-citationYoungman, S., Bates, G. P., Williams, S., McClatchey, A. I., Baxendale, S., Sedláček, Z., Altherr, M. R., Wasmuth, J. J., MacDonald, M. E., Gusella, J. F., et al. (1992) · Genomics · doi:10.1016/s0888-7543(05)80225-3 · Cited by 34 · see citing works
Self-citationThe direct screening of cosmid libraries with YAC clones
Baxendale, S., Bates, G. P., MacDonald, M. E., Gusella, J. F., & Lehrach, H. R. (1991) · Nucleic Acids Research · doi:10.1093/nar/19.23.6651 · Cited by 34 · see citing works
Self-citationGusella, J. F. (1989) · The FASEB Journal · doi:10.1096/fasebj.3.9.2568302 · Cited by 29 · see citing works
New DNA markers in the Huntington's disease gene candidate region
Lin, C. S., Altherr, M. R., Bates, G. P., Whaley, W. L., Read, A., Harris, R., Lehrach, H. R., Wasmuth, J. J., Gusella, J. F., & MacDonald, M. E. (1991) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233172 · Cited by 26 · see citing works
Self-citationA recombination event that redefines the Huntington disease region.
Snell, R. G., Thompson, L. M., Tagle, D., Holloway, T., Barnes, G., Harley, H. G., Sandkuijl, L. A., MacDonald, M. E., Collins, F. S., & Gusella, J. F. (1992) · PubMed · Cited by 19 · see citing works
Self-citationGeneration and characterization of irradiation hybrids of human chromosome 4
Doucette‐Stamm, L., Riba, L., Handelin, B., Difilippantonio, M. J., Ward, D. C., Wasmuth, J. J., Gusella, J. F., & Housman, D. E. (1991) · Somatic Cell and Molecular Genetics · doi:10.1007/bf01233171 · Cited by 19 · 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
Radiation hybrid map spanning the huntington disease gene region of chromosome 4
Altherr, M. R., Plummer, S. J., Bates, G. P., MacDonald, M. E., Taylor, S., Lehrach, H. R., Frischauf, A.-M., Gusella, J. F., Boehnke, M., & Wasmuth, J. J. (1992) · Genomics · doi:10.1016/0888-7543(92)90017-m · Cited by 15 · see citing works
Self-citationGusella, J. (1991) · PubMed · Cited by 12 · see citing works
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
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Benson, G. (1999) · Nucleic Acids Research · doi:10.1093/nar/27.2.573 · Cited by 9,374 · see citing works
Soluble protein oligomers in neurodegeneration: lessons from the Alzheimer's amyloid β-peptide
Haass, C., & Selkoe, D. J. (2007) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm2101 · Cited by 4,744 · see citing works
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
Sherrington, R., Rogaev, E. I., Liang, Y., Rogaeva, E. A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K., et al. (1995) · Nature · doi:10.1038/375754a0 · Cited by 4,051 · see citing works
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Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81369-0 · Cited by 3,073 · see citing works
Walker, F. O. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60111-1 · Cited by 2,623 · see citing works
Cloning of the Gene Containing Mutations that Cause PARK8-Linked Parkinson's Disease
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Ophoff, R. A., Terwindt, G. M., Vergouwe, M. N., van Eijk, R., Oefner, P. J., Hoffman, S. M. G., Lamerdin, J. E., Mohrenweiser, H. W., Bulman, D. E., Ferrari, M., et al. (1996) · Cell · doi:10.1016/s0092-8674(00)81373-2 · Cited by 2,337 · see citing works
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Davies, S. W., Turmaine, M., Cozens, B. A., DiFiglia, M., Sharp, A. H., Ross, C. A., Scherzinger, E., Wanker, E. E., Mangiarini, L., & Bates, G. P. (1997) · Cell · doi:10.1016/s0092-8674(00)80513-9 · Cited by 2,188 · see citing works
A high-coverage genome sequence from an archaic denisovan individual
Meyer, M., Kircher, M., Gansauge, M.-T., Li, H., Racimo, F., Mallick, S., Schraiber, J. G., Jay, F., Prüfer, K., de Filippo, C., et al. (2012) · Science · doi:10.1126/science.1224344 · Cited by 1,967 · see citing works
Enriched environments, experience-dependent plasticity and disorders of the nervous system
Nithianantharajah, J., & Hannan, A. J. (2006) · Nature Reviews Neuroscience · doi:10.1038/nrn1970 · Cited by 1,771 · see citing works
CAG 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
Huntington's disease: from molecular pathogenesis to clinical treatment
Ross, C. A., & Tabrizi, S. J. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70245-3 · Cited by 1,751 · see citing works
Integrated Systems Approach Identifies Genetic Nodes and Networks in Late-Onset Alzheimer’s Disease
Zhang, B., Gaiteri, C., Bodea, L.-G., Wang, Z., McElwee, J., Podtelezhnikov, A. A., Zhang, C., Xie, T., Tran, L., Dobrin, R., et al. (2013) · Cell · doi:10.1016/j.cell.2013.03.030 · Cited by 1,657 · see citing works
Self-citationBates, 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
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
Saudou, F., Finkbeiner, S. M., Devys, D., & Greenberg, M. E. (1998) · Cell · doi:10.1016/s0092-8674(00)81782-1 · Cited by 1,598 · see citing works
Zhuchenko, O., Bailey, J. M., Bonnen, P. E., Ashizawa, T., Stockton, D. W., Amos, C. I., Dobyns, W. B., Subramony, S. H., Zoghbi, H. Y., & Lee, C. C. (1997) · Nature Genetics · doi:10.1038/ng0197-62 · Cited by 1,581 · see citing works
Unfolding the role of protein misfolding in neurodegenerative diseases
Soto, C. (2003) · Nature Reviews Neuroscience · doi:10.1038/nrn1007 · Cited by 1,506 · see citing works
Botstein, D., & Risch, N. (2003) · Nature Genetics · doi:10.1038/ng1090 · Cited by 1,503 · see citing works
Androgen Receptor Defects: Historical, Clinical, and Molecular Perspectives*
Quigley, C. A., Bellis, A. D., Marschke, K. B., Awady, M. K. E., Wilson, E. M., & French, F. S. (1995) · Endocrine Reviews · doi:10.1210/edrv-16-3-271 · Cited by 1,436 · see citing works
Association study designs for complex diseases
Cardon, L. R., & Bell, J. I. (2001) · Nature Reviews Genetics · doi:10.1038/35052543 · Cited by 1,380 · see citing works
Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
Polymenidou, M., Lagier-Tourenne, C., Hutt, K. R., Huelga, S. C., Moran, J., Liang, T. Y., Ling, S.-C., Sun, E., Wancewicz, E., Mazur, C., et al. (2011) · Nature Neuroscience · doi:10.1038/nn.2779 · Cited by 1,335 · see citing works
Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease
Zuccato, C., Ciammola, A., Rigamonti, D., Leavitt, B. R., Goffredo, D., Conti, L., MacDonald, M. E., Friedlander, R. M., Silani, V., Hayden, M. R., et al. (2001) · Science · doi:10.1126/science.1059581 · Cited by 1,319 · see citing works
Self-citationScherzinger, E., Lurz, R., Turmaine, M., Mangiarini, L., Hollenbach, B., Hasenbank, R., Bates, G. P., Davies, S. W., Lehrach, H., & Wanker, E. E. (1997) · Cell · doi:10.1016/s0092-8674(00)80514-0 · Cited by 1,291 · see citing works
Andrew, S. E., Goldberg, Y. P., Kremer, B. P. H., Telenius, H., Theilmann, J., Adam, S., Starr, E. M., Squitieri, F., Lin, B., Kalchman, M. A., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-398 · Cited by 1,135 · see citing works
Clinical Neurology and Epidemiology of the Major Neurodegenerative DiseasesPreprint
Erkkinen, M. G., Kim, M., & Geschwind, M. D. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a033118 · Cited by 1,152 · see citing works
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2
Pulst, S.-M., Nechiporuk, A. V., Nechiporuk, T., Gispert, S., Chen, X., Lopes‐Cendes, Í., Pearlman, S., Starkman, S., Díaz, G. O., Lunkes, A., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-269 · Cited by 1,113 · see citing works
Unstable 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
Huntington's disease: a clinical review
McColgan, P., & Tabrizi, S. J. (2017) · European Journal of Neurology · doi:10.1111/ene.13413 · Cited by 1,097 · see citing works
Trinucleotide repeat length instability and age of onset in Huntington's disease
Duyao, M., Ambrose, C., Myers, R., Novelletto, A., Persichetti, F., Frontali, M., Folstein, S., Ross, C., Franz, M., Abbott, M., et al. (1993) · Nature Genetics · doi:10.1038/ng0893-387 · Cited by 1,089 · see citing works
Self-citationDopamine: Functions, Signaling, and Association with Neurological Diseases
Klein, M. O., Battagello, D. S., Cardoso, A. R., Hauser, D. N., Bittencourt, J. C., & Correa, R. G. (2019) · Cellular and Molecular Neurobiology · doi:10.1007/s10571-018-0632-3 · Cited by 1,073 · see citing works
Steffan, J. S., Kazantsev, A. G., Spasić-Bošković, O., Greenwald, M., Zhu, Y., Goehler, H., Wanker, E. E., Bates, G. P., Housman, D. E., & Thompson, L. M. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.100110097 · Cited by 1,057 · see citing works
Reversal of Neuropathology and Motor Dysfunction in a Conditional Model of Huntington's Disease
Yamamoto, A., Lucas, J. J., & Hen, R. (2000) · Cell · doi:10.1016/s0092-8674(00)80623-6 · Cited by 1,068 · see citing works
Chen, M., Ona, V. O., Li, M., Ferrante, R. J., Fink, K., Zhu, S., Bian, J., Guo, L., Farrell, L. A., Hersch, S. M., et al. (2000) · Nature Medicine · doi:10.1038/77528 · Cited by 1,056 · see citing works
Huntington's disease: a clinical review
Roos, R. A. C. (2010) · Orphanet Journal of Rare Diseases · doi:10.1186/1750-1172-5-40 · Cited by 1,049 · see citing works
Advances in therapeutic applications of extracellular vesicles
Wiklander, O. P. B., Brennan, M. Á., Lötvall, J., Breakefield, X. O., & EL Andaloussi, S. (2019) · Science Translational Medicine · doi:10.1126/scitranslmed.aav8521 · Cited by 1,039 · see citing works
Early mitochondrial calcium defects in Huntington's disease are a direct effect of polyglutamines
Panov, A. V., Gutekunst, C.-A., Leavitt, B. R., Hayden, M. R., Burke, J. R., Strittmatter, W. J., & Greenamyre, J. T. (2002) · Nature Neuroscience · doi:10.1038/nn884 · Cited by 1,030 · see citing works
Oxidative Stress, Mitochondrial Dysfunction, and Aging
Cui, H., Kong, Y., & Zhang, H. (2011) · Journal of Signal Transduction · doi:10.1155/2012/646354 · Cited by 1,036 · see citing works
Huntington disease: natural history, biomarkers and prospects for therapeutics
Ross, C. A., Aylward, E. H., Wild, E. J., Langbehn, D. R., Long, J. D., Warner, J. H., Scahill, R. I., Leavitt, B. R., Stout, J. C., Paulsen, J. S., et al. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.24 · Cited by 1,016 · see citing works
Lithium induces autophagy by inhibiting inositol monophosphatase
Sarkar, S., Floto, R. A., Berger, Z., Imarisio, S., Cordenier, A., Pasco, M., Cook, L. J., & Rubinsztein, D. C. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200504035 · Cited by 985 · 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
Ataxin-1 Nuclear Localization and Aggregation
Klement, I. A., Skinner, P. J., Kaytor, M. D., Yi, H. L., Hersch, S. M., Clark, H. B., Zoghbi, H. Y., & Orr, H. T. (1998) · Cell · doi:10.1016/s0092-8674(00)81781-x · Cited by 956 · see citing works
Huntingtin interacts with REST/NRSF to modulate the transcription of NRSE-controlled neuronal genes
Zuccato, C., Tartari, M., Crotti, A., Goffredo, D., Valenza, M., Conti, L., Cataudella, T., Leavitt, B. R., Hayden, M. R., Timmusk, T., et al. (2003) · Nature Genetics · doi:10.1038/ng1219 · Cited by 814 · see citing works
Carter, R. J., Lione, L. A., Humby, T., Mangiarini, L., Mahal, A., Bates, G. P., Dunnett, S. B., & Morton, A. J. (1999) · Journal of Neuroscience · doi:10.1523/jneurosci.19-08-03248.1999 · Cited by 949 · see citing works
Brain-derived neurotrophic factor in neurodegenerative diseases
Zuccato, C., & Cattaneo, E. (2009) · Nature Reviews Neurology · doi:10.1038/nrneurol.2009.54 · Cited by 947 · see citing works
Nuclear and Neuropil Aggregates in Huntington’s Disease: Relationship to Neuropathology
Gutekunst, C.-A., Li, S.-H., Yi, H., Mulroy, J. S., Kuemmerle, S., Jones, R., Rye, D., Ferrante, R. J., Hersch, S. M., & Li, X.-J. (1999) · The Journal of Neuroscience · doi:10.1523/jneurosci.19-07-02522.1999 · Cited by 914 · see citing works
Effect of trehalose on protein structure
Jain, N. K., & Roy, I. (2008) · Protein Science · doi:10.1002/pro.3 · Cited by 890 · see citing works
Browne, S. E., Bowling, A. C., Macgarvey, U., Baik, M. J., Berger, S. C., Muquit, M. M. K., Bird, E. D., & Beal, M. F. (1997) · Annals of Neurology · doi:10.1002/ana.410410514 · Cited by 885 · see citing works
Nasir, J., Floresco, S., OʼKusky, J. R., Diewert, V. M., Richman, J. M., Zeisler, J., Borowski, A. H., Marth, J. D., Phillips, A. G., & Hayden, M. R. (1995) · Cell · doi:10.1016/0092-8674(95)90542-1 · Cited by 878 · see citing works
Microglia-mediated neuroinflammation in neurodegenerative diseases
Subhramanyam, C. S., Wang, C., Hu, Q., & Dheen, S. T. (2019) · Seminars in Cell and Developmental Biology · doi:10.1016/j.semcdb.2019.05.004 · Cited by 875 · see citing works
Apoptosis and Caspases in Neurodegenerative Diseases
Friedlander, R. M. (2003) · New England Journal of Medicine · doi:10.1056/nejmra022366 · Cited by 873 · see citing works
Molecular Mechanisms and Potential Therapeutical Targets in Huntington's Disease
Zuccato, C., Valenza, M., & Cattaneo, E. (2010) · Physiological Reviews · doi:10.1152/physrev.00041.2009 · Cited by 848 · see citing works
Hodgson, J., Agopyan, N., Gutekunst, C., Leavitt, B. R., LePiane, F. G., Singaraja, R. R., Smith, D. J., Bissada, N., McCutcheon, K. M., Nasir, J., et al. (1999) · Neuron · doi:10.1016/s0896-6273(00)80764-3 · Cited by 832 · see citing works
Intranuclear Inclusions of Expanded Polyglutamine Protein in Spinocerebellar Ataxia Type 3
Paulson, H. L., Perez, M. K., Trottier, Y., Trojanowski, J. Q., Subramony, S. H., Das, S. S., Vig, P. J. S., Mandel, J., Fischbeck, K. H., & Pittman, R. N. (1997) · Neuron · doi:10.1016/s0896-6273(00)80943-5 · Cited by 830 · 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
Carrell, R. W., & Lomas, D. A. (1997) · The Lancet · doi:10.1016/s0140-6736(97)02073-4 · Cited by 806 · 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
Mapping and analysis of quantitative trait loci in experimental populations
Doerge, R. W. (2002) · Nature Reviews Genetics · doi:10.1038/nrg703 · Cited by 797 · see citing works
Regional and cellular gene expression changes in human Huntington's disease brain
Hodges, A., Strand, A. D., Aragaki, A. K., Kuhn, A., Sengstag, T., Hughes, G., Elliston, L. A., Hartog, C., Goldstein, D. R., Thu, D., et al. (2006) · Human Molecular Genetics · doi:10.1093/hmg/ddl013 · Cited by 804 · see citing works
Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease
Slow, E. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg169 · Cited by 799 · see citing works
GSK3 inhibitors: development and therapeutic potential
Cohen, P., & Goedert, M. (2004) · Nature Reviews Drug Discovery · doi:10.1038/nrd1415 · Cited by 788 · see citing works
Neurodegenerative Diseases and Prions
Prusiner, S. B. (2001) · New England Journal of Medicine · doi:10.1056/nejm200105173442006 · Cited by 767 · see citing works
Kordasiewicz, H. B., Stanek, L. M., Wancewicz, E. V., Mazur, C., McAlonis, M. M., Pytel, K. A., Artates, J. W., Weiss, A., Cheng, S. H., Shihabuddin, L. S., et al. (2012) · Neuron · doi:10.1016/j.neuron.2012.05.009 · Cited by 770 · see citing works
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
David, G., Abbas, N., Stévanin, G., Dürr, A., Yvert, G., Cancel‐Tassin, G., Weber, C., Imbert, G., Saudou, F., Antoniou, E., et al. (1997) · Nature Genetics · doi:10.1038/ng0997-65 · Cited by 769 · see citing works
Sanpei, K., Takano, H., Igarashi, S., Sato, T., Oyake, M., Sasaki, H., Wakisaka, A., Tashiro, K., Ishida, Y., Ikeuchi, T., et al. (1996) · Nature Genetics · doi:10.1038/ng1196-277 · Cited by 763 · 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
Does neuroinflammation fan the flame in neurodegenerative diseases?
Frank-Cannon, T. C., Alto, L. T., McAlpine, F. E., & Tansey, M. G. (2009) · Molecular Neurodegeneration · doi:10.1186/1750-1326-4-47 · Cited by 751 · see citing works
Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons
DiFiglia, M., Sapp, E., Chase, K., Schwarz, C., Meloni, A., Young, C., Martin, E., Vonsattel, J.-P., Carraway, R., Reeves, S. A., et al. (1995) · Neuron · doi:10.1016/0896-6273(95)90346-1 · Cited by 749 · see citing works
Hästbacka, J., de la Chapelle, A., Mahtani, M. M., Clines, G., Reeve-Daly, M. P., Daly, M., Hamilton, B. A., Kusumi, K., Trivedi, B., Weaver, A., et al. (1994) · Cell · doi:10.1016/0092-8674(94)90281-x · Cited by 744 · see citing works
Inactivation of the Mouse Huntington's Disease Gene Homolog <i>Hdh</i>
Duyao, M. P., Auerbach, A. B., Ryan, A., Persichetti, F., Barnes, G. T., McNeil, S. M., Ge, P., Vonsattel, J.-P., Gusella, J. F., Joyner, A. L., et al. (1995) · Science · doi:10.1126/science.7618107 · Cited by 723 · see citing works
Self-citationHDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin.
Iwata, A., Riley, B. E., Johnston, J. A., & Kopito, R. R. (2005) · Journal of Biological Chemistry · doi:10.1074/jbc.m508786200 · Cited by 719 · see citing works
The physiology and pathophysiology of nitric oxide in the brain
Guix, F. X., Uribesalgo, I., Coma, M., & Muñoz, F. J. (2005) · Progress in Neurobiology · doi:10.1016/j.pneurobio.2005.06.001 · Cited by 708 · 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
Relationship between trinucleotide repeat expansion and phenotypic variation in Huntington's disease
Snell, R. G., MacMillan, J., Cheadle, J. P., Fenton, I., Lazarou, L., Davies, P. J., MacDonald, M. E., Gusella, J. F., Harper, P. S., & Shaw, D. J. (1993) · Nature Genetics · doi:10.1038/ng0893-393 · Cited by 710 · see citing works
Self-citationTargeting Huntingtin Expression in Patients with Huntington’s Disease
Tabrizi, S. J., Leavitt, B. R., Landwehrmeyer, G. B., Wild, E. J., Saft, C., Barker, R. A., Blair, N. F., Craufurd, D., Priller, J., Rickards, H., et al. (2019) · New England Journal of Medicine · doi:10.1056/nejmoa1900907 · Cited by 708 · see citing works
Scherzinger, E., Sittler, A., Schweiger, K., Heiser, V., Lurz, R., Hasenbank, R., Bates, G. P., Lehrach, H. R., & Wanker, E. E. (1999) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.96.8.4604 · Cited by 707 · see citing works
Buratti, E., & Baralle, F. E. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m104236200 · Cited by 697 · see citing works
Oxidative Stress and Antioxidants in Neurodegenerative Disorders
Olufunmilayo, E. O., Gerke-Duncan, M. B., & Holsinger, R. M. D. (2023) · Antioxidants · doi:10.3390/antiox12020517 · Cited by 722 · see citing works
Axonal transport: cargo-specific mechanisms of motility and regulation
Maday, S., Twelvetrees, A. E., Moughamian, A. J., & Holzbaur, E. L. F. (2014) · Neuron · doi:10.1016/j.neuron.2014.10.019 · Cited by 683 · see citing works
Harper, S. Q., Staber, P. D., He, X., Eliason, S. L., Martins, I. H., Mao, Q., Yang, L., Kotin, R. M., Paulson, H. L., & Davidson, B. L. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0501507102 · Cited by 682 · see citing works
The genetic epidemiology of neurodegenerative disease
Bertram, L. (2005) · Journal of Clinical Investigation · doi:10.1172/jci24761 · Cited by 680 · see citing works
Packer, A. N., Xing, Y., Harper, S. Q., Jones, L., & Davidson, B. L. (2008) · The Journal of Neuroscience · doi:10.1523/jneurosci.2390-08.2008 · Cited by 679 · see citing works
Muchowski, P. J., Schaffar, G., Sittler, A., Wanker, E. E., Hayer-Hartl, M. K., & Hartl, F. U. (2000) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.140202897 · Cited by 668 · see citing works
Disturbed mitochondrial dynamics and neurodegenerative disorders
Burté, F., Carelli, V., Chinnery, P. F., & Yu‐Wai‐Man, P. (2014) · Nature Reviews Neurology · doi:10.1038/nrneurol.2014.228 · Cited by 659 · see citing works
Kantety, R. V., Rota, M. L., Matthews, D. E., & Sorrells, M. E. (2002) · Plant Molecular Biology · doi:10.1023/a:1014875206165 · Cited by 652 · see citing works
Autosomal dominant cerebellar ataxias: polyglutamine expansions and beyond
Dürr, A. (2010) · The Lancet Neurology · doi:10.1016/s1474-4422(10)70183-6 · Cited by 658 · see citing works
Normal huntingtin function: an alternative approach to Huntington's disease
Cattaneo, E. F., Zuccato, C., & Tartari, M. (2005) · Nature reviews. Neuroscience · doi:10.1038/nrn1806 · Cited by 655 · 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
Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease
Lee, J.-M., Wheeler, V. C., Chao, M. J., Vonsattel, J. P. G., Pinto, R. M., Lucente, D., Abu-Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., et al. (2015) · Cell · doi:10.1016/j.cell.2015.07.003 · Cited by 655 · see citing works
Self-citationTrottier, Y., Lutz, Y., Stévanin, G., Imbert, G., Devys, D., Cancel‐Tassin, G., Saudou, F., Weber, C., David, G., Tora, L., et al. (1995) · Nature · doi:10.1038/378403a0 · Cited by 654 · see citing works
Inhibition of caspase-1 slows disease progression in a mouse model of Huntington's disease
Ona, V. O., Li, M., Vonsattel, J. P., Andrews, L. J., Khan, S. Q., Chung, W. M., Frey, A. S., Menon, A., Li, X., Stieg, P. E., et al. (1999) · Nature · doi:10.1038/20446 · Cited by 640 · 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
Transcriptional Activation Modulated by Homopolymeric Glutamine and Proline Stretches
Gerber, H., Seipel, K., Georgiev, O., Höfferer, M., Hug, M., Rusconi, S., & Schaffner, W. (1994) · Science · doi:10.1126/science.8303297 · Cited by 618 · see citing works
Targeting ferroptosis opens new avenues for the development of novel therapeutics
Sun, S., Shen, J., Jiang, J., Wang, F., & Min, J. (2023) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-023-01606-1 · Cited by 632 · see citing works
Gray, M., Shirasaki, D., Cepeda, C., André, V., Wilburn, B., Lu, X.-H., Tao, J., Yamazaki, I., Li, S.-H., Sun, Y. E., et al. (2008) · Journal of Neuroscience · doi:10.1523/jneurosci.0857-08.2008 · Cited by 616 · see citing works
- 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 ›
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