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Cited by 538

The DOI matches its Crossref record; 83 of the 83 references it cites were found in a registry or an index.

CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset

Open access
Lee, Jong-Min, Correia, Kevin, Loupe, Jacob, Kim, Kyung-Hee, Barker, Douglas, Hong, Eun Pyo, Chao, Michael J., Long, Jeffrey D., Lucente, Diane, Vonsattel, Jean Paul G., Pinto, Ricardo Mouro, Abu Elneel, Kawther, Ramos, Eliana Marisa, Mysore, Jayalakshmi Srinidhi, Gillis, Tammy, Wheeler, Vanessa C., MacDonald, Marcy E., Gusella, James F., McAllister, Branduff, Massey, Thomas, Medway, Christopher, Stone, Timothy C., Hall, Lynsey, Jones, Lesley, Holmans, Peter, Kwak, Seung, Ehrhardt, Anka G., Sampaio, Cristina, Ciosi, Marc, Maxwell, Alastair, Chatzi, Afroditi, Monckton, Darren G., Orth, Michael, Landwehrmeyer, G. Bernhard, Paulsen, Jane S., Dorsey, E. Ray, Shoulson, Ira, Myers, Richard H.·2019·Cell
DOI 10.1016/j.cell.2019.06.036
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Abstract

Variable, glutamine-encoding, CAA interruptions indicate that a property of the uninterrupted HTT CAG repeat sequence, distinct from the length of huntingtin's polyglutamine segment, dictates the rate at which Huntington's disease (HD) develops. The timing of onset shows no significant association with HTT cis-eQTLs but is influenced, sometimes in a sex-specific manner, by polymorphic variation at multiple DNA maintenance genes, suggesting that the special onset-determining property of the uninterrupted CAG repeat is a propensity for length instability that leads to its somatic expansion. Additional naturally occurring genetic modifier loci, defined by GWAS, may influence HD pathogenesis through other mechanisms. These findings have profound implications for the pathogenesis of HD and other repeat diseases and question the fundamental premise that polyglutamine length determines the rate of pathogenesis in the "polyglutamine disorders."

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Authors
Lee, J.-M., Correia, K., Loupe, J., Kim, K.-H., Barker, D., Hong, E. P., Chao, M. J., Long, J. D., Lucente, D., Vonsattel, J. P. G., Pinto, R. M., Abu Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., Wheeler, V. C., MacDonald, M. E., Gusella, J. F., McAllister, B., Massey, T., Medway, C., Stone, T. C., Hall, L., Jones, L., Holmans, P., Kwak, S., Ehrhardt, A. G., Sampaio, C., Ciosi, M., Maxwell, A., Chatzi, A., Monckton, D. G., Orth, M., Landwehrmeyer, G. B., Paulsen, J. S., Dorsey, E. R., Shoulson, I., & Myers, R. H.
Venue
Cell
Publisher
Elsevier BV
Published
2019-08
Volume
178
Issue
4
Pages
887-900.e14
ISSN
0092-8674 (ISSN-L)
DOI
10.1016/j.cell.2019.06.036
OpenAlex
W2969081693
Cited by
538
References
83
FWCI
23.63
Type
journal article
Language
en
Open access
hybrid

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CoChat. (2026). Citation check: CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset. https://app.cochat.ai/papers/10.1016/j.cell.2019.06.036
The paper
Lee, J.-M., Correia, K., Loupe, J., Kim, K.-H., Barker, D., Hong, E. P., Chao, M. J., Long, J. D., Lucente, D., Vonsattel, J. P. G., Pinto, R. M., Abu Elneel, K., Ramos, E. M., Mysore, J. S., Gillis, T., Wheeler, V. C., MacDonald, M. E., Gusella, J. F., McAllister, B., . . . Myers, R. H. (2019). CAG Repeat Not Polyglutamine Length Determines Timing of Huntington’s Disease Onset. Cell. https://doi.org/10.1016/j.cell.2019.06.036

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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.