The DOI matches its Crossref record; 152 of the 152 references it cites were found in a registry or an index.
Polyglutamine Repeats in Neurodegenerative Diseases
Open accessAbstract
Among the age-dependent protein aggregation disorders, nine neurodegenerative diseases are caused by expansions of CAG repeats encoding polyglutamine (polyQ) tracts. We review the clinical, pathological, and biological features of these inherited disorders. We discuss insights into pathogenesis gleaned from studies of model systems and patients, highlighting work that informs efforts to develop effective therapies. An important conclusion from these analyses is that expanded CAG/polyQ domains are the primary drivers of neurodegeneration, with the biology of carrier proteins influencing disease-specific manifestations. Additionally, it has become apparent that CAG/polyQ repeat expansions produce neurodegeneration via multiple downstream mechanisms, involving both gain- and loss-of-function effects. This conclusion indicates that the likelihood of developing effective therapies targeting single nodes is reduced. The evaluation of treatments for premanifest disease will likely require new investigational approaches. We highlight the opportunities and challenges underlying ongoing work and provide recommendations related to the development of symptomatic and disease-modifying therapies and biomarkers that could inform future research.
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Cited by
Hallmarks of neurodegenerative diseases
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
CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset
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Molecular mechanisms underlying nucleotide repeat expansion disorders
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Self-citation
Metadata
- Authors
- Lieberman, A. P., Shakkottai, V. G., & Albin, R. L.
- Venue
- Annual Review of Pathology: Mechanisms of Disease
- Publisher
- Annual Reviews
- Published
- 2019-01-24
- Volume
- 14
- Issue
- 1
- Pages
- 1-27
- ISSN
- 1553-4006 (ISSN-L)
- 1553-4014
- OpenAlex
- W2887748872
- Cited by
- 304
- References
- 152
- FWCI
- 2.67
- Type
- journal article
- Language
- en
- Open access
- green
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