The Tre2/Bub2/Cdc16 (TBC), lysin motif (LysM), domain catalytic (TLDc) domain is a highly conserved C-terminal region shared by a novel gene family. Mutations in TLDc proteins, including Nuclear Receptor Coactivator 7 (NCOA7), Oxidation Resistance 1 (OXR1) and TBC 1 Domain Family Member 23 (TBC1D24), are associated with neurodevelopmental delay, epilepsy and cerebellar degeneration leading to ataxia. In the mouse, TLDc proteins are expressed throughout the mammalian CNS and are essential for neuronal function and survival. Disruption of TLDc proteins in genetically altered mice causes cerebellar neurodegeneration, neuroinflammation and seizures, which effectively recapitulate the pathology of human TLDc mutations. At the cellular level, TLDc proteins regulate oxidative stress and support neuronal function by interacting with cellular targets, including lysosomal components. My project aims to validate these interactions in the mouse brain and explore how disruption of TLDc proteins contributes to neuroinflammation at the cellular-molecular level.
I attained integrated degrees of BSc, MBiol in Medical Science from the University of Leeds in 2019 and am a current DPhil student at MRC Harwell and the University of Oxford.