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VCP-related myopathy: a case series and a review of literature
The valosin-containing protein (VCP), a widely expressed protein, controls the ubiquitin-proteasome system, endolysosomal sorting, and autophagy to maintain cellular proteostasis. Frontotemporal dementia (FTD), inclusion body myopathy, and Paget’s disease of the bone (PDB) are all caused by dominant...
Autores principales: | Iannibelli, Eliana, Gibertini, Sara, Cheli, Marta, Blasevich, Flavia, Cavaliere, Andrea, Riolo, Giorgia, Ruggieri, Alessandra, Maggi, Lorenzo |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Pacini Editore Srl
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10115396/ https://www.ncbi.nlm.nih.gov/pubmed/37091525 http://dx.doi.org/10.36185/2532-1900-244 |
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