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Muscle Histopathological Abnormalities in a Patient With a CCT5 Mutation Predicted to Affect the Apical Domain of the Chaperonin Subunit
Recognition of diseases associated with mutations of the chaperone system genes, e.g., chaperonopathies, is on the rise. Hereditary and clinical aspects are established, but the impact of the mutation on the chaperone molecule and the mechanisms underpinning the tissue abnormalities are not. Here, h...
Autores principales: | Scalia, Federica, Barone, Rosario, Rappa, Francesca, Marino Gammazza, Antonella, Lo Celso, Fabrizio, Lo Bosco, Giosuè, Barone, Giampaolo, Antona, Vincenzo, Vadalà, Maria, Vitale, Alessandra Maria, Mangano, Giuseppe Donato, Amato, Domenico, Sentiero, Giusy, Macaluso, Filippo, Myburgh, Kathryn H., Conway de Macario, Everly, Macario, Alberto J. L., Giuffrè, Mario, Cappello, Francesco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9201415/ https://www.ncbi.nlm.nih.gov/pubmed/35720129 http://dx.doi.org/10.3389/fmolb.2022.887336 |
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