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

• Main Authors: Alessia Di Donfrancesco (Author), Christian Berlingieri (Author), Marta Giacomello (Author), Chiara Frascarelli (Author), Ana Paula Magalhaes Rebelo (Author), Laurence A. Bindoff (Author), Segel Reeval (Author), Paul Renbaum (Author), Filippo M. Santorelli (Author), Giulia Massaro (Author), Carlo Viscomi (Author), Massimo Zeviani (Author), Daniele Ghezzi (Author), Emanuela Bottani (Author), Dario Brunetti (Author)
• Format: Book
• Published: Frontiers Media S.A., 2023-07-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...