Article
Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.
Human molecular genetics - 10 Nov 2022
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
Abstract excerpt
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 the disease in an infant suffering from cerebellar ataxia that started at 19 months old and presented severe...
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