The DOI matches its Crossref record; 31 of the 31 references it cites were found in a registry or an index.
Exon 1 of the HD Gene with an Expanded CAG Repeat Is Sufficient to Cause a Progressive Neurological Phenotype in Transgenic Mice
Open accessAbstract
Huntington's disease (HD) is one of an increasing number of neurodegenerative disorders caused by a CAG/polyglutamine repeat expansion. Mice have been generated that are transgenic for the 5' end of the human HD gene carrying (CAG)115-(CAG)150 repeat expansions. In three lines, the transgene is ubiquitously expressed at both mRNA and protein level. Transgenic mice exhibit a progressive neurological phenotype that exhibits many of the features of HD, including choreiform-like movements, involuntary stereotypic movements, tremor, and epileptic seizures, as well as nonmovement disorder components. This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies.
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“we employed a recombinant serotype of an adeno-associated virus (AAV2/5) that is known to be highly specific for glial cells 24 .”
From SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes (2021) · cites this paper as [24]
In the citing paper
“R6/2 mice express exon 1 and promoter sequences of the human HD gene inserted into the mouse genome and carry 141-157 CAG repeats (Mangiarini et al., 1996).”
From Dendritic Spine Instability Leads to Progressive Neocortical Spine Loss in a Mouse Model of Huntington's Disease (2013) · cites this paper as Mangiarini et al., 1996
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“The R6/2 line is a short-lived and rapidly progressing mouse model of Huntington's disease that displays motor and behavioural deficits beginning around 7 weeks of age and progressing until an early death at 11-13 weeks (Mangiarini et al. , 1996).”
From Microglial depletion prevents extracellular matrix changes and striatal volume reduction in a model of Huntington's disease (2020) · cites this paper as Mangiarini et al., 1996
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Cites
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Axonopathy in Huntington's disease
Li, J.-Y., & Conforti, L. (2013) · Experimental Neurology · doi:10.1016/j.expneurol.2012.08.010 · Cited by 55
SREBP2 gene therapy targeting striatal astrocytes ameliorates Huntington’s disease phenotypes
Birolini, G., Verlengia, G., Talpo, F., Maniezzi, C., Zentilin, L., Giacca, M., Conforti, P., Cordiglieri, C., Caccia, C., Leoni, V., et al. (2021) · Brain · doi:10.1093/brain/awab186 · Cited by 48
Effects of chronic stress on the onset and progression of Huntington’s disease in transgenic mice
Mo, C., Renoir, T., & Hannan, A. J. (2014) · Neurobiology of Disease · doi:10.1016/j.nbd.2014.07.008 · Cited by 46
A novel function of Huntingtin in the cilium and retinal ciliopathy in Huntington’s disease mice
Karam, A., Tebbe, L., Weber, C., Messaddeq, N., Morlé, L., Kessler, P., Wolfrum, U., & Trottier, Y. (2015) · Neurobiology of Disease · doi:10.1016/j.nbd.2015.05.008 · Cited by 38
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Hoffner, G., Soues, S., & Djian, P. (2007) · Prion · doi:10.4161/pri.1.1.4056 · Cited by 39
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Borgini, M., Mondal, P., Liu, R., & Wipf, P. (2021) · RSC Medicinal Chemistry · doi:10.1039/d0md00328j · Cited by 37
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Strategies to Investigate Ubiquitination in Huntington's Disease
Sap, K. A., & Reits, E. A. (2020) · Frontiers in Chemistry · doi:10.3389/fchem.2020.00485 · Cited by 25
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McCollum, M. H., Leon, R. T., Rush, D. B., Guthrie, K. M., & Wei, J. (2013) · Brain Research · doi:10.1016/j.brainres.2013.04.030 · Cited by 11
“This strain expresses exon 1 of the human huntingtin gene, containing ∼160 CAG repeats (Mangiarini et al., 1996).”
Influential
Metadata
- Authors
- Mangiarini, L., Sathasivam, K., Seller, M., Cozens, B., Harper, A., Hetherington, C., Lawton, M., Trottier, Y., Lehrach, H., Davies, S. W., & Bates, G. P.
- Affiliations
- Guy's Hospital (GB)
- University College London (GB)
- St Thomas' Hospital (GB)
- John Radcliffe Hospital (GB)
- Centre National de la Recherche Scientifique (FR)
- Max Planck Institute for Molecular Genetics (DE)
- Corresponding author
- Bates, Gillian P
- Venue
- Cell
- Publisher
- Elsevier BV
- Published
- 1996-11
- Volume
- 87
- Issue
- 3
- Pages
- 493-506
- ISSN
- 0092-8674 (ISSN-L)
- OpenAlex
- W2062682951
- Cited by
- 3,073
- References
- 31
- Citations by year
- 2026: 52 · 2025: 59 · 2024: 76 · 2023: 77 · 2022: 92 · 2021: 124 · 2020: 92 · 2019: 108 · 2018: 132 · 2017: 109 · 2016: 112 · 2015: 121 · 2014: 144 · 2013: 124 · 2012: 149
- FWCI
- 27.67
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Licence
- Locations
- Cell (publishedVersion)
- PubMed (publishedVersion)
- HAL (submittedVersion)
- UCL Discovery (University College London) (submittedVersion)
- Research Portal (King's College London) (submittedVersion)
- 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 › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Keywords
- Huntington's disease, CAG repeat expansion, polyglutamine, exon 1, transgenic mice, neurodegeneration, choreiform movements, stereotyped movements, tremor, epileptic seizures, animal models
- MeSH terms
- Huntingtin Protein, Animals, Brain, Disease Models, Animal, Exons, Female, Humans, Huntington Disease, Male, Mice, Neurologic Mutants, Mice, Transgenic, Nerve Tissue Proteins, Nuclear Proteins, Phenotype, Spinal Cord, Trinucleotide Repeats, Transgenes, Mice
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