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PNAS Nexus|June 11, 2025
Mitochondrial PTRH2 controls the deubiquitinase TRABID to regulate mt-ND5 stability and metabolismCarlotta Giorgi, Femke J Aan, Natalija Glibetic, et al.Annals of Clinical and Translational Neurology|January 10, 2015
Mutations in PTRH2 cause novel infantile-onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weaknessHao Hu, Michelle L Matter, Lina Issa-Jahns, et al.Pageof 15