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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Molecular Biosciences
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

Internet

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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