Article
Antioxidant Amelioration of Riboflavin Transporter Deficiency in Motoneurons Derived from Patient-Specific Induced Pluripotent Stem Cells.
International journal of molecular sciences - 7 Oct 2020
Marioli Chiara, Magliocca Valentina, Petrini Stefania, Niceforo Alessia, Borghi Rossella, Petrillo Sara, La Rosa Piergiorgio, Colasuonno Fiorella, Persichini Tiziana, Piemonte Fiorella, Massey Keith, Tartaglia Marco, Moreno Sandra, Bertini Enrico, Compagnucci Claudia
Abstract excerpt
Mitochondrial dysfunction is a key element in the pathogenesis of neurodegenerative disorders, such as riboflavin transporter deficiency (RTD). This is a rare, childhood-onset disease characterized by motoneuron degeneration and caused by mutations in SLC52A2 and SLC52A3, encoding riboflavin (RF) transporters (RFVT2 and RFVT3, respectively), resulting in muscle weakness, ponto-bulbar paralysis and sensorineural...
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