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Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3

Peroxiredoxin 3 (PRDX3) encodes a mitochondrial antioxidant protein, which is essential for the control of reactive oxygen species homeostasis. So far, PRDX3 mutations are involved in mild-to-moderate progressive juvenile onset cerebellar ataxia. We aimed to unravel the molecular bases underlying th...

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Detalles Bibliográficos
Autores principales: Martínez-Rubio, Dolores, Rodríguez-Prieto, Ángela, Sancho, Paula, Navarro-González, Carmen, Gorría-Redondo, Nerea, Miquel-Leal, Javier, Marco-Marín, Clara, Jenkins, Alison, Soriano-Navarro, Mario, Hernández, Alberto, Pérez-Dueñas, Belén, Fazzari, Pietro, Aguilera-Albesa, Sergio, Espinós, Carmen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9652108/
https://www.ncbi.nlm.nih.gov/pubmed/35766882
http://dx.doi.org/10.1093/hmg/ddac146