Blar i Department of Clinical Medicine på forfatter "Brunetti, Dario"
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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients
Di Donfrancesco, Alessia; Berlingieri, Christian; Giacomello, Marta; Frascarelli, Chiara; Magalhaes Rebelo, Ana Paula; Bindoff, Laurence Albert; Reeval, Segel; Renbaum, Paul; Santorelli, Filippo M.; Massaro, Giulia; Viscomi, Carlo; Zeviani, Massimo; Ghezzi, Daniele; Bottani, Emanuela; Brunetti, Dario (Journal article; Peer reviewed, 2023)Introduction: Biallelic variants in PITRM1 are associated with a slowly progressive syndrome characterized by intellectual disability, spinocerebellar ataxia, cognitive decline and psychosis. The pitrilysin metallopeptidase ... -
Role of pitrm1 in mitochondrial dysfunction and neurodegeneration
Brunetti, Dario; Catania, Alessia; Viscomi, Carlo; Deleidi, Michela; Bindoff, Laurence Albert; Ghezzi, Daniele; Zeviani, Massimo (Journal article; Peer reviewed, 2021)Mounting evidence shows a link between mitochondrial dysfunction and neurodegenerative disorders, including Alzheimer Disease. Increased oxidative stress, defective mitodynamics, and impaired oxidative phosphorylation ...