Publications by authors named "Charl du Plessis"
CRISPR-Cas9 mediated knockout of NDUFS4 in human iPSCs: A model for mitochondrial complex I deficiency.
Biochim Biophys Acta Mol Basis Dis
February 2025
Article Synopsis
- Mitochondrial diseases, particularly those linked to complex I defects, currently have no cure, highlighting the need for better drug discovery methods.
- *Induced pluripotent stem cells (iPSCs) can be genetically modified using CRISPR-Cas9, creating models like the NDUFS4 knockout (KO) that exhibit significant metabolic changes linked to mitochondrial dysfunction.
- *Metabolomic profiling of NDUFS4 KO iPSCs revealed an increased NADH/NAD ratio, and treatment with β-lapachone improved the redox state, emphasizing the potential of iPSCs for developing new therapies for mitochondrial disorders.*