Justine Rousseau

Sep 21, 2024 | biorxiv.org | Sara Benhammouda |Justine Rousseau |Philippe M Campeau |Marc Germain

AbstractThe RabGAP protein TBC1D24 is mutated in several neurological disorders including DOORS syndrome (Deafness, Onycho-Osteodystrophy, Mental Retardation, Seizures). Although TBC1D24 comprises two highly conserved domains - the Tre2/Bub2/Cdc16 (TBC) domain and the TLDc domain - both of which seem to play critical roles in cellular functions, its exact physiological function within the cell remains poorly understood. Here, we show that TBC1D24 affects mitochondrial structure and activity.