Characterisation of the novel mitochondrial protein (CABC1/ADCK3) and its role in protecting against oxidative stress (2010–2012)

Abstract:
The specific defect being investigated here is in a mitochondrial protein CABC1/ADCK3. Mutations in the gene coding for this protein have been shown to be associated with a novel human genetic disorder. The aim here is to characterise the protein and investigate its function with a view to elucidating the connection between defects in mitochondrial electron transport chain proteins and the appearance of oxidative stress. A greater understanding of this protein, its cellular localization and activity will assist in delineating its normal role in the cell to protect against neurological abnormalities.
Grant type:
ARC Discovery Projects
Funded by:
Australian Research Council