Abstract 2857 A novel pathogenic mutation of PPTC7 results in metabolic and mitophagy defects characteristic of mitochondrial disease - Keri-Lyn Kozul; Youmian Yan; Emily Harrelson; Kevin Cho; Francisca Vitorino; Gary Patti; Benjamin Garcia; Naif Almontashiri; Natalie Niemi (Journal of Biological Chemistry, 2025)