Cited by 172Amyotrophic Lateral Sclerosis ResearchAlzheimer's disease research and treatmentsHereditary Neurological Disorders

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The Complex Molecular Biology of Amyotrophic Lateral Sclerosis (ALS)

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Redler, Rachel L., Dokholyan, Nikolay V.·2012·Progress in Molecular Biology and Translational Science

DOI 10.1016/b978-0-12-385883-2.00002-3PMC PMC3605887

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Abstract

Amyotrophic lateral sclerosis (ALS) is an adult-onset neurodegenerative disorder that causes selective death of motor neurons followed by paralysis and death. A subset of ALS cases is caused by mutations in the gene for Cu, Zn superoxide dismutase (SOD1), which impart a toxic gain of function to this antioxidant enzyme. This neurotoxic property is widely believed to stem from an increased propensity to misfold and aggregate caused by decreased stability of the native homodimer or a tendency to lose stabilizing posttranslational modifications. Study of the molecular mechanisms of SOD1-related ALS has revealed a complex array of interconnected pathological processes, including glutamate excitotoxicity, dysregulation of neurotrophic factors and axon guidance proteins, axonal transport defects, mitochondrial dysfunction, deficient protein quality control, and aberrant RNA processing. Many of these pathologies are directly exacerbated by misfolded and aggregated SOD1 and/or cytosolic calcium overload, suggesting the primacy of these events in disease etiology and their potential as targets for therapeutic intervention.

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Authors: Redler, R. L., & Dokholyan, N. V.
Affiliations: University of North Carolina at Chapel Hill (US)
ORCID: Redler, Rachel L.
Dokholyan, Nikolay V.
Venue: Progress in Molecular Biology and Translational Science
Publisher: Elsevier
Published: 2012
Volume: 107
Pages: 215-262
ISSN: 1877-1173 (ISSN-L)
DOI: 10.1016/b978-0-12-385883-2.00002-3
PMC: PMC3605887
OpenAlex: W57985618
Cited by: 172
References: 387
Citations by year: 2026: 4 · 2025: 5 · 2024: 10 · 2023: 12 · 2022: 11 · 2021: 11 · 2020: 6 · 2019: 12 · 2018: 22 · 2017: 14 · 2016: 18 · 2015: 8 · 2014: 18 · 2013: 18 · 2012: 2
FWCI: 37.72
Type: book chapter
Language: en
Open access: green
www.ncbi.nlm.nih.gov
Locations: Progress in molecular biology and translational science (publishedVersion)
PubMed (publishedVersion)
Europe PMC (PubMed Central) (acceptedVersion)
PubMed Central (acceptedVersion)
Funders: National Institute of General Medical Sciences (R01GM080742)
National Institute of Neurological Disorders and Stroke (F31NS073435)
Topics: Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Alzheimer's disease research and treatments
Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
Keywords: amyotrophic lateral sclerosis, SOD1 mutations, Cu/Zn superoxide dismutase, protein misfolding, protein aggregation, glutamate excitotoxicity, neurotrophic factors, mitochondrial dysfunction, protein quality control, RNA processing, calcium overload, motor neuron degeneration, neurodegeneration
MeSH terms: Superoxide Dismutase-1, Amyotrophic Lateral Sclerosis, Animals, Axons, Humans, Models, Molecular, Motor Neurons, Necrosis, Nerve Growth Factors, RNA Processing, Post-Transcriptional, Superoxide Dismutase, Apoptosis, Protein Folding, Mice, Protein Multimerization, Translational Research, Biomedical

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