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Cited by 507

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 access
Jimenez-Sanchez, Maria, Licitra, Floriana, Underwood, Benjamin R., Rubinsztein, David C.·2017·Cold Spring Harbor Perspectives in Medicine

Abstract

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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Crossref · 10.1101/cshperspect.a024240

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Metadata

Authors
Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C.
Venue
Cold Spring Harbor Perspectives in Medicine
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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CoChat. (2026). Citation check: Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies. https://app.cochat.ai/papers/10.1101/cshperspect.a024240
The paper
Jimenez-Sanchez, M., Licitra, F., Underwood, B. R., & Rubinsztein, D. C. (2017). Huntington’s Disease: Mechanisms of Pathogenesis and Therapeutic Strategies. Cold Spring Harbor Perspectives in Medicine. https://doi.org/10.1101/cshperspect.a024240

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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.

Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.