The DOI matches its Crossref record; 253 of the 253 references it cites were found in a registry or an index.
Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies
Open accessAbstract
Huntington's disease is a late-onset neurodegenerative disease caused by a CAG trinucleotide repeat in the gene encoding the huntingtin protein. Despite its well-defined genetic origin, the molecular and cellular mechanisms underlying the disease are unclear and complex. Here, we review some of the currently known functions of the wild-type huntingtin protein and discuss the deleterious effects that arise from the expansion of the CAG repeats, which are translated into an abnormally long polyglutamine tract. Finally, we outline some of the therapeutic strategies that are currently being pursued to slow down the disease.
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Cites
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Wilson, D. M., Cookson, M. R., Van Den Bosch, L., Zetterberg, H., Holtzman, D. M., & Dewachter, I. (2023) · Cell · doi:10.1016/j.cell.2022.12.032 · Cited by 1,789
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Shen, X., & Corey, D. R. (2018) · Nucleic Acids Research · doi:10.1093/nar/gkx1239 · Cited by 632
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Guo, F., Liu, X., Cai, H., & Le, W. (2018) · Brain Pathology · doi:10.1111/bpa.12545 · Cited by 444
Mitochondrial dysfunction in neurodegenerative disorders
Klemmensen, M. M., Borrowman, S. H., Pearce, C., Pyles, B., & Chandra, B. (2024) · Neurotherapeutics · doi:10.1016/j.neurot.2023.10.002 · Cited by 396
Metadata
- Authors
- Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C.
- Venue
- Cold Spring Harbor Perspectives in Medicine
- Publisher
- Cold Spring Harbor Laboratory
- Published
- 2016-12-09
- Volume
- 7
- Issue
- 7
- Pages
- a024240
- ISSN
- 2157-1422 (ISSN-L)
- OpenAlex
- W2559796913
- Cited by
- 507
- References
- 253
- Type
- posted content
- Language
- en
- Open access
- bronze
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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