The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles
Open accessAbstract
OBJECTIVE: To identify the genetic etiology and characterize the clinicopathologic features of a novel distal myopathy. METHODS: We performed whole-exome sequencing on a family with an autosomal dominant distal myopathy and targeted exome sequencing in 1 patient with sporadic distal myopathy, both with rimmed vacuolar pathology. We also evaluated the pathogenicity of identified mutations using immunohistochemistry, Western blot analysis, and expression studies. RESULTS: Sequencing identified a likely pathogenic c.1165+1 G>A splice donor variant in SQSTM1 in the affected members of 1 family and in an unrelated patient with sporadic distal myopathy. Affected patients had late-onset distal lower extremity weakness, myopathic features on EMG, and muscle pathology demonstrating rimmed vacuoles with both TAR DNA-binding protein 43 and SQSTM1 inclusions. The c.1165+1 G>A SQSTM1 variant results in the expression of 2 alternatively spliced SQSTM1 proteins: 1 lacking the C-terminal PEST2 domain and another lacking the C-terminal ubiquitin-associated (UBA) domain, both of which have distinct patterns of cellular and skeletal muscle localization. CONCLUSIONS: SQSTM1 is an autophagic adaptor that shuttles aggregated and ubiquitinated proteins to the autophagosome for degradation via its C-terminal UBA domain. Similar to mutations in VCP, dominantly inherited mutations in SQSTM1 are now associated with rimmed vacuolar myopathy, Paget disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia. Our data further suggest a pathogenic connection between the disparate phenotypes.
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“SQSTM1 mutations affect muscle, bone, and liver [125,367,368]”
From Autophagy and ALS: mechanistic insights and therapeutic implications (2022) · cites this paper as [367]
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Bjørkøy, G., Lamark, T., Brech, A., Outzen, H., Perander, M., Øvervatn, A., Stenmark, H., & Johansen, T. (2005) · The Journal of Cell Biology · doi:10.1083/jcb.200507002 · Cited by 3,276
Amino Acid Sequences Common to Rapidly Degraded Proteins: The PEST Hypothesis
Rogers, S. W., Wells, R., & Rechsteiner, M. (1986) · Science · doi:10.1126/science.2876518 · Cited by 2,541
Komatsu, M., Kurokawa, H., Waguri, S., Taguchi, K., Kobayashi, A., Ichimura, Y., Sou, Y.-S., Ueno, I., Sakamoto, A., Tong, K. I., et al. (2010) · Nature Cell Biology · doi:10.1038/ncb2021 · Cited by 2,288
Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS
Kim, H. J., Kim, N. C., Wang, Y., Scarborough, E. A., Moore, J., Diaz, Z., MacLea, K. S., Freibaum, B. D., Li, S., Molliex, A., et al. (2013) · Nature · doi:10.1038/nature11922 · Cited by 1,478
Self-citationWatts, G. D. J., Wymer, J., Kovach, M. J., Mehta, S. G., Mumm, S., Darvish, D., Pestronk, A., Whyte, M. P., & Kimonis, V. E. (2004) · Nature Genetics · doi:10.1038/ng1332 · Cited by 1,391
Self-citationA Role for NBR1 in Autophagosomal Degradation of Ubiquitinated Substrates
Kirkin, V., Lamark, T., Sou, Y.-S., Bjørkøy, G., Nunn, J. L., Bruun, J.-A., Shvets, E., McEwan, D. G., Clausen, T. H., Wild, P., et al. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.01.020 · Cited by 1,065
<emph type="ital">SQSTM1</emph> Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis
Fecto, F. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.250 · Cited by 650
TDP‐43 A315T mutation in familial motor neuron disease
Gitcho, M. A., Baloh, R. H., Chakraverty, S., Mayo, K., Norton, J. B., Levitch, D., Hatanpaa, K. J., White, C. L., Bigio, E. H., Caselli, R. J., et al. (2008) · Annals of Neurology · doi:10.1002/ana.21344 · Cited by 633
Self-citationThe Kinase Domain of Titin Controls Muscle Gene Expression and Protein Turnover
Lange, S., Xiang, F., Yakovenko, A. R., Vihola, A., Hackman, P., Rostkova, E. V., Kristensen, J., Brandmeier, B., Franzen, G., Hedberg, B., et al. (2005) · Science · doi:10.1126/science.1110463 · Cited by 602
Self-citationValosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease
Ju, J.-S., Fuentealba, R. A., Miller, S. E., Jackson, E., Piwnica-Worms, D., Baloh, R. H., & Weihl, C. C. (2009) · Journal of Cell Biology · doi:10.1083/jcb.200908115 · Cited by 494
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Autophagy and ALS: mechanistic insights and therapeutic implications
Chua, J. P., De Calbiac, H., Kabashi, E., & Barmada, S. J. (2022) · Autophagy · doi:10.1080/15548627.2021.1926656 · Cited by 189
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis
Gang, Q., Bettencourt, C., Machado, P. M., Brady, S., Holton, J. L., Pittman, A. M., Hughes, D., Healy, E., Parton, M., Hilton-Jones, D., et al. (2016) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2016.07.024 · Cited by 51
Metadata
- Authors
- Bucelli, R. C., Arhzaouy, K., Pestronk, A., Pittman, S. K., Rojas, L., Sue, C. M., Evilä, A., Hackman, P., Udd, B., Harms, M. B., & Weihl, C. C.
- Affiliations
- The University of Sydney (AU)
- Venue
- Neurology
- Published
- 2015-08-25
- Volume
- 85
- Issue
- 8
- Pages
- 665-674
- ISSN
- 0028-3878 (ISSN-L)
- 1526-632X
- PMC
- PMC4553032
- OpenAlex
- W1907485558
- Cited by
- 92
- References
- 28
- Citations by year
- 2026: 2 · 2025: 6 · 2024: 8 · 2023: 8 · 2022: 6 · 2021: 9 · 2020: 17 · 2019: 8 · 2018: 7 · 2017: 7 · 2016: 11 · 2015: 3
- FWCI
- 4.05
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Neurology (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Institute on Aging (AG042095, AG031867, K02AG042095, R01AG031867)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Muscle Physiology and Disorders
- Health Sciences › Medicine › Clinical Neurology › Amyotrophic Lateral Sclerosis Research
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- p62, distal myopathy with rimmed vacuoles, splice site mutation, rimmed vacuoles, alternative splicing, UBA domain, autophagy, autosomal dominant myopathy, lower limb weakness, genetic etiology
- MeSH terms
- Sequestosome-1 Protein, Humans, Male, Middle Aged, Mutation, Pedigree, Vacuoles, Adaptor Proteins, Signal Transducing, Distal Myopathies, Exome
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