The DOI matches its Crossref record; 111 of the 111 references it cites were found in a registry or an index.
Genetics of amyotrophic lateral sclerosis: an update
Open accessAbstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder involving both upper motor neurons (UMN) and lower motor neurons (LMN). Enormous research has been done in the past few decades in unveiling the genetics of ALS, successfully identifying at least fifteen candidate genes associated with familial and sporadic ALS. Numerous studies attempting to define the pathogenesis of ALS have identified several plausible determinants and molecular pathways leading to motor neuron degeneration, which include oxidative stress, glutamate excitotoxicity, apoptosis, abnormal neurofilament function, protein misfolding and subsequent aggregation, impairment of RNA processing, defects in axonal transport, changes in endosomal trafficking, increased inflammation, and mitochondrial dysfunction. This review is to update the recent discoveries in genetics of ALS, which may provide insight information to help us better understanding of the disease neuropathogenesis.
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“Patients with ALS-FTD2 present with an adult onset, autosomal dominant fALS and FTD [2,71].”
TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
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Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43
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Ataxin-2 intermediate-length polyglutamine expansions are associated with increased risk for ALS
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Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth
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The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS
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Mutations of optineurin in amyotrophic lateral sclerosis
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Exome 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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Cited by
Oxidative Stress in Neurodegenerative Diseases
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Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways
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Oxidative Stress in Neurodegenerative Diseases
Niedzielska, E., Smaga, I., Gawlik, M., Moniczewski, A., Stankowicz, P., Pera, J., & Filip, M. (2016) · Molecular Neurobiology · doi:10.1007/s12035-015-9337-5 · Cited by 800
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
Belzil, V. V., Bauer, P. O., Prudencio, M., Gendron, T. F., Stetler, C. T., Yan, I. K., Pregent, L., Daughrity, L., Baker, M. C., Rademakers, R., et al. (2013) · Acta Neuropathologica · doi:10.1007/s00401-013-1199-1 · Cited by 314
Metadata
- Authors
- Chen, S., Sayana, P., Zhang, X., & Le, W.
- Venue
- Molecular Neurodegeneration
- Published
- 2013-08-13
- Volume
- 8
- Issue
- 1
- Pages
- 28-28
- ISSN
- 1750-1326 (ISSN-L)
- OpenAlex
- W2099160207
- Cited by
- 326
- References
- 111
- FWCI
- 15.01
- Type
- journal article
- Language
- en
- Open access
- gold
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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.
