Marc Germain

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.

Sep 6, 2023 | onlinelibrary.wiley.com | Antoine Lewin |Marc Germain |Christian Renaud |Nancy Robitaille

DATA AVAILABILITY STATEMENT The data that support the findings of this study are available on request from the corresponding author. The data are not publicly available due to privacy or ethical restrictions.