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SOD1-Related Cerebellar Ataxia and Motor Neuron Disease: Cp Variant as Functional Modifier?
Open accessPublished version of a preprint
Abstract
We describe a novel superoxide dismutase (SOD1) mutation-associated clinical phenotype of cerebellar ataxia and motor neuron disease with a variant in the ceruloplasmin (Cp) gene, which may have possibly contributed to a multi-factorial phenotype, supported by genetic and protein structure analyses.
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Highly accurate protein structure prediction with AlphaFold
Jumper, J., Evans, R., Pritzel, A., Green, T., Figurnov, M., Ronneberger, O., Tunyasuvunakool, K., Bates, R., Žídek, A., Potapenko, A., et al. (2021) · Nature · doi:10.1038/s41586-021-03819-2 · Cited by 43,764
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Research works printed but not linked: 14
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Metadata
- Authors
- Marsili, L., Davis, J. L., Espay, A. J., Gilthorpe, J., Williams, C., Kauffman, M. A., & Porollo, A.
- Affiliations
- University of Cincinnati (US)
- University of Washington (US)
- Umeå University (SE)
- Hospital Ramos Mejía (AR)
- Cincinnati Children's Hospital Medical Center (US)
- Corresponding author
- Marsili, Luca
- Venue
- The Cerebellum
- Published
- 2023-02-09
- Volume
- 23
- Issue
- 1
- Pages
- 205-209
- ISSN
- 1473-4222 (ISSN-L)
- 1473-4230
- OpenAlex
- W4319656877
- Cited by
- 5
- References
- 1
- Citations by year
- 2026: 2 · 2024: 2 · 2023: 1
- FWCI
- 0.85
- Type
- journal article
- Language
- en
- Open access
- green
- doi.org
- Licence
- Locations
- The Cerebellum (publishedVersion)
- Research Square (acceptedVersion, cc-by)
- PubMed (publishedVersion)
- Greater South Information System
- Funders
- University of Cincinnati
- Topics
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- SOD1 mutations, cerebellar ataxia, motor neuron disease, ceruloplasmin, protein structure
- MeSH terms
- Superoxide Dismutase-1, Amyotrophic Lateral Sclerosis, Cerebellar Ataxia, Ceruloplasmin, Humans, Mutation, Superoxide Dismutase, Motor Neuron Disease
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