Chih-Yao Chung

Random mtDNA mutagenesis maps genotype-phenotype associations across metabolic contexts and lineages

The paper introduces mtDIVE, a random mtDNA mutagenesis platform, to study genotype-phenotype associations in metabolic contexts and lineages, revealing lineage-specific effects and mutation-specific impacts.

Pathogenic variants in autophagy-tethering factor EPG5 drive neurodegeneration through mitochondrial dysfunction and innate immune activation

This study identifies EPG5 mutations causing neurodegeneration via mitochondrial dysfunction and innate immune activation in patient-derived cells.

Metabolic remodelling in hiPSC-derived myofibres carrying the m.3243A>G mutation

This study generates hiPSC-derived myofibres with the m.3243A>G mutation to model mitochondrial disease, showing metabolic and physiological changes related to mutation load.