C9ORF72‐ALS: P62‐ and ubiquitin‐aggregation pathology in skeletal muscle
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In C9orf72-related ALS and FTD, SQSTM1 accumulates together with ubiquitin in neurons and glia as well as muscle fibers.
“In the most commonly inherited form of ALS and FTD due to mutations in the C9orf72 gene (described below), SQSTM1 accumulates together with ubiquitin in neurons and glia [119–121] as well as muscle fibers [122].”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [122]
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References 10 · Cited by 18
- Authors
- Türk, M., Haaker, G., Winter, L., Just, W., Nickel, F. T., Linker, R. A., Chevessier, F., & Schröder, R.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Universität Ulm (DE)
- Venue
- Muscle & Nerve
- Publisher
- Wiley
- Published
- 2014-08-19
- Volume
- 50
- Issue
- 3
- Pages
- 454-455
- ISSN
- 0148-639X (ISSN-L)
- 1097-4598
- OpenAlex
- W1586524966
- Cited by
- 18
- References
- 10
- Citations by year
- 2026: 2 · 2025: 1 · 2023: 1 · 2021: 3 · 2020: 2 · 2019: 4 · 2018: 3 · 2016: 1 · 2014: 1
- FWCI
- 0.43
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Muscle & Nerve (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Genetic Neurodegenerative Diseases
- Keywords
- C9orf72, amyotrophic lateral sclerosis, p62, ubiquitin, protein aggregation, skeletal muscle, inclusion bodies, protein quality control
- MeSH terms
- Sequestosome-1 Protein, C9orf72 Protein, Amyotrophic Lateral Sclerosis, Biopsy, Inclusion Bodies, DNA-Binding Proteins, Humans, Male, Middle Aged, Muscular Diseases, Proteins, Sarcoidosis, Fatal Outcome, Muscle, Skeletal, Ubiquitin, Adaptor Proteins, Signal Transducing
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
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