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Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report
p62/Sequestosome-1 (SQSTM1) is a stress-inducible scaffold protein involved in multiple cellular processes, including apoptosis, inflammation, cell survival, and selective autophagy. SQSTM1 mutations are associated with a spectrum of multisystem proteinopathy, including Paget disease of the bone, am...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10043206/ https://www.ncbi.nlm.nih.gov/pubmed/36998782 http://dx.doi.org/10.3389/fneur.2023.1043136 |