TTC19 Plays a Husbandry Role on UQCRFS1 Turnover in the Biogenesis of Mitochondrial Respiratory Complex III.

Emanuela Bottani, Raffaele Cerutti, Michael E Harbour, Sabrina Ravaglia, Sukru Anil Dogan, Carla Giordano, Ian Fearnley, Giulia D'Amati, Carlo Viscomi, Erika Fernandez-Vizarra & Massimo Zeviani
Loss-of-function mutations in TTC19 (tetra-tricopeptide repeat domain 19) have been associated with severe neurological phenotypes and mitochondrial respiratory chain complex III deficiency. We previously demonstrated the mitochondrial localization of TTC19 and its link with complex III biogenesis. Here we provide detailed insight into the mechanistic role of TTC19, by investigating a Ttc19-/- mouse model that shows progressive neurological and metabolic decline, decreased complex III activity, and increased production of reactive oxygen species. By using both...

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