The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries
Abstract
Mutations in the Cu/Zn superoxide dismutase (SODl) gene are found in 15 to 20% of patients with familial amyotrophic lateral sclerosis (FALS). Increased levels of neurofilament subunits in transgenic mouse models of ALS also suggests a key role for these proteins in the pathogenesis of the disease. We report the coexistence of an Ile 113 → Thr substitution in exon 4 of the SOD1 gene and marked neurofilamentous pathology in the same FALS patient. These observations suggest that two mechanisms, SOD 1‐induced toxicity and neurofilament disruption, are acting together.
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Cites
Rosen, D. R., Siddique, T., Patterson, D., Figlewicz, D. A., Sapp, P., Hentati, A., Donaldson, D., Goto, J., O'Regan, J. P., Deng, H.-X., et al. (1993) · Nature · doi:10.1038/362059a0 · Cited by 7,062
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Cited by
Caughey, B., & Lansbury, P. T. (2003) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.26.010302.081142 · Cited by 1,650
ALS: A Disease of Motor Neurons and Their Nonneuronal Neighbors
Boillée, S., Vande Velde, C., & Cleveland, D. W. (2006) · Neuron · doi:10.1016/j.neuron.2006.09.018 · Cited by 1,429
A Structural Scaffolding of Intermediate Filaments in Health and Disease
Fuchs, E., & Cleveland, D. W. (1998) · Science · doi:10.1126/science.279.5350.514 · Cited by 1,012
Mitochondrial Dysfunction in Neurodegenerative Diseases
Johri, A., & Beal, M. F. (2012) · The Journal of Pharmacology and Experimental Therapeutics · doi:10.1124/jpet.112.192138 · Cited by 806
Neurofilament phosphoforms: Surrogate markers for axonal injury, degeneration and loss
Petzold, A. (2005) · Journal of the Neurological Sciences · doi:10.1016/j.jns.2005.03.015 · Cited by 688
Metadata
- Authors
- Rouleau, G. A., Clark, A. W., Rooke, K., Pramatarova, A., Krizus, A., Suchowersky, O., Julien, J., & Figlewicz, D.
- Venue
- Annals of Neurology
- Publisher
- Wiley
- Published
- 1996-01
- Volume
- 39
- Issue
- 1
- Pages
- 128-131
- ISSN
- 0364-5134 (ISSN-L)
- 1531-8249
- OpenAlex
- W1978932408
- Cited by
- 245
- References
- 1
- FWCI
- 17.18
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries. https://app.cochat.ai/papers/10.1002/ana.410390119
- The paper
- Rouleau, G. A., Clark, A. W., Rooke, K., Pramatarova, A., Krizus, A., Suchowersky, O., Julien, J., & Figlewicz, D. (1996). SOD1 mutation is assosiated with accumulation of neurofilaments in amyotrophic lateral scelaries. Annals of Neurology. https://doi.org/10.1002/ana.410390119
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
