The DOI matches its Crossref record; 9 of the 9 references it cites were found in a registry or an index.
Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a late-onset neurodegenerative disorder resulting from motor neuron death. Approximately 10% of cases are familial (FALS), typically with a dominant inheritance mode. Despite numerous advances in recent years, nearly 50% of FALS cases have unknown genetic aetiology. Here we show that mutations within the profilin 1 (PFN1) gene can cause FALS. PFN1 is crucial for the conversion of monomeric (G)-actin to filamentous (F)-actin. Exome sequencing of two large ALS families showed different mutations within the PFN1 gene. Further sequence analysis identified 4 mutations in 7 out of 274 FALS cases. Cells expressing PFN1 mutants contain ubiquitinated, insoluble aggregates that in many cases contain the ALS-associated protein TDP-43. PFN1 mutants also display decreased bound actin levels and can inhibit axon outgrowth. Furthermore, primary motor neurons expressing mutant PFN1 display smaller growth cones with a reduced F/G-actin ratio. These observations further document that cytoskeletal pathway alterations contribute to ALS pathogenesis.
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A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD
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Self-citationExome Sequencing Reveals VCP Mutations as a Cause of Familial ALS
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Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia
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Renton, A. E., Chiò, A., & Traynor, B. J. (2014) · Nature Neuroscience · doi:10.1038/nn.3584 · Cited by 1,544
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Self-citationStress granules and neurodegeneration
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Metadata
- Authors
- Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D., Baron, D. M., Kost, J. E., Gonzalez-Perez, P., Fox, A. D., Adams, J., Taroni, F., Tiloca, C., Leclerc, A. L., Chafe, S. C., Mangroo, D., Moore, M. J., Zitzewitz, J. A., Xu, Z.-S., van den Berg, L. H., Glass, J. D., Siciliano, G., Cirulli, E. T., Goldstein, D. B., Salachas, F., Meininger, V., Rossoll, W., Ratti, A., Gellera, C., Bosco, D. A., Bassell, G. J., Silani, V., Drory, V. E., Brown Jr, R. H., & Landers, J. E.
- Venue
- Nature
- Published
- 2012-07-15
- Volume
- 488
- Issue
- 7412
- Pages
- 499-503
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1974448552
- Cited by
- 603
- References
- 9
- FWCI
- 36.83
- Type
- journal article
- Language
- en
- Open access
- green
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- Wu, C.-H., Fallini, C., Ticozzi, N., Keagle, P. J., Sapp, P. C., Piotrowska, K., Lowe, P., Koppers, M., McKenna-Yasek, D., Baron, D. M., Kost, J. E., Gonzalez-Perez, P., Fox, A. D., Adams, J., Taroni, F., Tiloca, C., Leclerc, A. L., Chafe, S. C., Mangroo, D., . . . Landers, J. E. (2012). Mutations in the profilin 1 gene cause familial amyotrophic lateral sclerosis. Nature. https://doi.org/10.1038/nature11280
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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.
