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PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

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 1 (PITRM1) is a mitochondrial matrix enzyme, which digests diverse oligopept...

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Detalles Bibliográficos
Autores principales:	Di Donfrancesco, Alessia, Berlingieri, Christian, Giacomello, Marta, Frascarelli, Chiara, Magalhaes Rebelo, Ana Paula, Bindoff, Laurence A., Reeval, Segel, Renbaum, Paul, Santorelli, Filippo M., Massaro, Giulia, Viscomi, Carlo, Zeviani, Massimo, Ghezzi, Daniele, Bottani, Emanuela, Brunetti, Dario
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2023
Materias:	Pharmacology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10415619/ https://www.ncbi.nlm.nih.gov/pubmed/37576821 http://dx.doi.org/10.3389/fphar.2023.1220620

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