The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Fourteen and counting: unraveling trinucleotide repeat diseases
Abstract
The pathological expansion of unstable trinucleotide repeats currently is known to cause 14 neurological diseases. Over the past several years, researchers have concentrated on the challenging task of identifying the mechanism by which the expanded trinucleotide repeat leads to abnormal cellular function. As a consequence, the trinucleotide repeat field has grown dramatically since the initial discovery of dynamic mutations less than a decade ago. Trinucleotide repeat expansions may prove to cause pathology through a variety of mechanisms including interference with DNA structure, transcription, RNA-protein interaction and altered protein conformations/interactions. The goal of this review is to provide a brief description of the genes harboring expanded repeats, coupled with new insights into the molecular pathways most likely to be disrupted by these expansions. Data from studies of patient material, cell culture and animal models demonstrate the complexity of the pathogenic mechanisms in each of the diseases.
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion
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Fu, Y.-H., Kuhl, D. P. A., Pizzuti, A., Pieretti, M., Sutcliffe, J. S., Richards, S., Verkert, A. J. M. H., Holden, J. J. A., Fenwick, R. G., Warren, S. T., et al. (1991) · Cell · doi:10.1016/0092-8674(91)90283-5 · Cited by 2,080
Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1
Lin, X., Antalffy, B., Kang, D., Orr, H. T., & Zoghbi, H. Y. (2000) · Nature Neuroscience · doi:10.1038/72101 · Cited by 374
Acetylated histones are associated with FMR1 in normal but not fragile X-syndrome cells
Coffee, B., Zhang, F., Warren, S. T., & Reines, D. (1999) · Nature Genetics · doi:10.1038/8807 · Cited by 325
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Cummings, C. J. (2001) · Human Molecular Genetics · doi:10.1093/hmg/10.14.1511 · Cited by 485
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Metadata
- Authors
- Cummings, C. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2000-04-01
- Volume
- 9
- Issue
- 6
- Pages
- 909-916
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2142710492
- Cited by
- 460
- References
- 5
- FWCI
- 17.66
- Type
- journal article
- Language
- en
- Open access
- closed
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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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