The DOI matches its Crossref record; 347 of the 347 references it cites were found in a registry or an index.
ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now?
Open accessAbstract
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift as the number of genes associated with the disease risk and pathogenesis, and the cellular processes involved, continues to grow. Despite decades of intense research and over 50 potentially causative or disease-modifying genes identified, etiology remains unexplained and treatment options remain limited for the majority of ALS patients. Various factors have contributed to the slow progress in understanding and developing therapeutics for this disease. Here, we review the genetic basis of ALS, highlighting factors that have contributed to the elusiveness of genetic heritability. The most commonly mutated ALS-linked genes are reviewed with an emphasis on disease-causing mechanisms. The cellular processes involved in ALS pathogenesis are discussed, with evidence implicating their involvement in ALS summarized. Past and present therapeutic strategies and the benefits and limitations of the model systems available to ALS researchers are discussed with future directions for research that may lead to effective treatment strategies outlined.
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Cites
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Cited by
Nguyen, P. H., Ramamoorthy, A., Sahoo, B. R., Zheng, J., Faller, P., Straub, J. E., Dominguez, L., Shea, J.-E., Dokholyan, N. V., De Simone, A., et al. (2021) · Chemical Reviews · doi:10.1021/acs.chemrev.0c01122 · Cited by 678
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Li, L., Acioglu, C., Heary, R. F., & Elkabes, S. (2021) · Brain, Behavior, and Immunity · doi:10.1016/j.bbi.2020.10.007 · Cited by 283
Béland, L.-C., Markovinovic, A., Jakovac, H., De Marchi, F., Bilic, E., Mazzini, L., Kriz, J., & Munitic, I. (2020) · Brain Communications · doi:10.1093/braincomms/fcaa124 · Cited by 125
Pun, F. W., Liu, B. H. M., Long, X., Leung, H. W., Leung, G. H. D., Mewborne, Q. T., Gao, J., Shneyderman, A., Ozerov, I. V., Wang, J., et al. (2022) · Frontiers in Aging Neuroscience · doi:10.3389/fnagi.2022.914017 · Cited by 115
“…including aberrant proteostasis, altered RNA metabolism, nucleocytoplasmic transport defects, mitochondrial dysfunction, DNA repair deficiency, axonal transport defects, vesicle transport dysregulation, excitotoxicity, oligodendrocyte dysfunction, and neuroinflammation (Mejzini et al., 2019).”
Background
Metadata
- Authors
- Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D., & Akkari, P. A.
- Venue
- Frontiers in Neuroscience
- Publisher
- Frontiers Media SA
- Published
- 2019-12-06
- Volume
- 13
- Pages
- 1310-1310
- ISSN
- 1662-453X (ISSN-L)
- OpenAlex
- W2991360048
- Cited by
- 755
- References
- 347
- FWCI
- 49.72
- Type
- journal article
- Language
- de
- Open access
- gold
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- Mejzini, R., Flynn, L. L., Pitout, I. L., Fletcher, S., Wilton, S. D., & Akkari, P. A. (2019). ALS Genetics, Mechanisms, and Therapeutics: Where Are We Now? Frontiers in Neuroscience. https://doi.org/10.3389/fnins.2019.01310
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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.
