The DOI matches its Crossref record; 24 of the 24 references it cites were found in a registry or an index.
The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
Open accessAbstract
A nucleotide repeat expansion (NRE) within the chromosome 9 open reading frame 72 (C9orf72) gene was the first of this type of mutation to be linked to multiple neurological conditions, including amyotrophic lateral sclerosis and frontotemporal dementia. The pathogenic mechanisms through which the C9orf72 NRE contributes to these disorders include loss of C9orf72 function and gain-of-function mechanisms of C9orf72 driven by toxic RNA and protein species encoded by the NRE. These mechanisms have been linked to several cellular defects — including nucleocytoplasmic trafficking deficits and nuclear stress — that have been observed in both patients and animal models.
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Self-citationA draft map of the human proteome
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The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.
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Self-citationC9orf72 nucleotide repeat structures initiate molecular cascades of disease
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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
C9orf72-mediated ALS and FTD: multiple pathways to disease
Balendra, R., & Isaacs, A. M. (2018) · Nature Reviews Neurology · doi:10.1038/s41582-018-0047-2 · Cited by 715
Biallelic expansion of an intronic repeat in RFC1 is a common cause of late-onset ataxia
Cortese, A., Simone, R., Sullivan, R., Vandrovcova, J., Tariq, H., Yau, W. Y., Humphrey, J., Jaunmuktane, Z., Sivakumar, P., Polke, J., et al. (2019) · Nature Genetics · doi:10.1038/s41588-019-0372-4 · Cited by 575
Tandem repeats mediating genetic plasticity in health and disease
Hannan, A. J. (2018) · Nature Reviews Genetics · doi:10.1038/nrg.2017.115 · Cited by 446
Zhu, Q., Jiang, J., Gendron, T. F., McAlonis-Downes, M., Jiang, L., Taylor, A., Diaz Garcia, S., Ghosh Dastidar, S., Rodriguez, M. J., King, P., et al. (2020) · Nature Neuroscience · doi:10.1038/s41593-020-0619-5 · Cited by 220
Metadata
- Authors
- Haeusler, A. R., Donnelly, C. J., & Rothstein, J. D.
- Venue
- Nature Reviews Neuroscience
- Published
- 2016-05-06
- Volume
- 17
- Issue
- 6
- Pages
- 383-395
- ISSN
- 1471-003X (ISSN-L)
- 1471-0048
- OpenAlex
- W2346276182
- Cited by
- 205
- References
- 24
- FWCI
- 6.27
- Type
- journal article
- Language
- en
- Open access
- green
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