The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS
Open accessAbstract
Increasing evidence suggests that defective RNA processing contributes to the development of amyotrophic lateral sclerosis (ALS). This may be especially true for ALS caused by a repeat expansion in C9orf72 (c9ALS), in which the accumulation of RNA foci and dipeptide-repeat proteins are expected to modify RNA metabolism. We report extensive alternative splicing (AS) and alternative polyadenylation (APA) defects in the cerebellum of c9ALS subjects (8,224 AS and 1,437 APA), including changes in ALS-associated genes (for example, ATXN2 and FUS), and in subjects with sporadic ALS (sALS; 2,229 AS and 716 APA). Furthermore, heterogeneous nuclear ribonucleoprotein H (hnRNPH) and other RNA-binding proteins are predicted to be potential regulators of cassette exon AS events in both c9ALS and sALS. Co-expression and gene-association network analyses of gene expression and AS data revealed divergent pathways associated with c9ALS and sALS.
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Cites
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Self-citationA Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Cited by
Alternative polyadenylation of mRNA precursors
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Metadata
- Authors
- Prudencio, M., Belzil, V. V., Batra, R., Ross, C. A., Gendron, T. F., Pregent, L. J., Murray, M. E., Overstreet, K. K., Piazza-Johnston, A. E., Desaro, P., Bieniek, K. F., DeTure, M., Lee, W. C., Biendarra, S. M., Davis, M. D., Baker, M. C., Perkerson, R. B., van Blitterswijk, M., Stetler, C. T., Rademakers, R., Link, C. D., Dickson, D. W., Boylan, K. B., Li, H., & Petrucelli, L.
- Venue
- Nature Neuroscience
- Published
- 2015-07-20
- Volume
- 18
- Issue
- 8
- Pages
- 1175-1182
- ISSN
- 1097-6256 (ISSN-L)
- 1546-1726
- OpenAlex
- W2164983138
- Cited by
- 390
- References
- 14
- FWCI
- 23.49
- Type
- journal article
- Language
- en
- Open access
- green
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- The paper
- Prudencio, M., Belzil, V. V., Batra, R., Ross, C. A., Gendron, T. F., Pregent, L. J., Murray, M. E., Overstreet, K. K., Piazza-Johnston, A. E., Desaro, P., Bieniek, K. F., DeTure, M., Lee, W. C., Biendarra, S. M., Davis, M. D., Baker, M. C., Perkerson, R. B., van Blitterswijk, M., Stetler, C. T., . . . Petrucelli, L. (2015). Distinct brain transcriptome profiles in C9orf72-associated and sporadic ALS. Nature Neuroscience. https://doi.org/10.1038/nn.4065
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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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