The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia
Open accessAbstract
Significance: A GGGGCC expansion mutation located in intron 1 of chromosome 9 ORF 72 ( C9ORF72 ) was recently described as a common cause of familial amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD). We show that this single mutation results in the accumulation of sense and antisense RNA foci plus six expansion proteins expressed by repeat-associated non-ATG (RAN) translation. RNAs accumulate in nuclear foci and the RAN proteins form cytoplasmic aggregates in neurons that often cluster in affected brain regions. These results indicate that bidirectional transcription and RAN translation are fundamental pathologic features of C9ORF72 ALS/FTD. Additionally these data have broad implications that change our understanding of how microsatellite expansion mutations are expressed in patient cells and how they cause disease.
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Cites
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Cited by
C9orf72 nucleotide repeat structures initiate molecular cascades of disease
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Self-citationC9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins
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C9orf72-mediated ALS and FTD: multiple pathways to disease
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Metadata
- Authors
- Zu, T., Liu, Y., Bañez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., Miller, T. M., Harms, M. B., Falchook, A. E., Subramony, S. H., Ostrow, L. W., Rothstein, J. D., Troncoso, J. C., & Ranum, L. P. W.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2013-11-18
- Volume
- 110
- Issue
- 51
- Pages
- E4968-77
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W2013488820
- Cited by
- 760
- References
- 9
- FWCI
- 30.97
- Type
- journal article
- Language
- en
- Open access
- green
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- Zu, T., Liu, Y., Bañez-Coronel, M., Reid, T., Pletnikova, O., Lewis, J., Miller, T. M., Harms, M. B., Falchook, A. E., Subramony, S. H., Ostrow, L. W., Rothstein, J. D., Troncoso, J. C., & Ranum, L. P. W. (2013). RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.1315438110
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